Abstract
The presentation of gout and its various stages from acute to chronic is reviewed in detail. Associated dietary and genetic factors and their presentation are reviewed. This chapter forms the basis for the diagnosis and management of gout that are discussed in subsequent chapters.
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References
Hausch R, Wilkerson M, Singh E, Reyes C, Harrington T. Tophaceous gout of the thoracic spine presenting as back pain and fever. J Clin Rheumatol. 1999;6:335–41.
Marsaudon E, Bouchard C, Languard D. Compression radiculaire par un tophus goutteux vertebral: a propos d’un cas et revue de la literature. Rev Med Interne. 1999;20:253–7.
Kao MC, Huang SC, Chiu CT, Yao YT. Thoracic cord compression due to gout: a case report and literature review. J Formos Med Assoc. 2000;98:572–5.
Mekelburg K, Rahimi AR. Gouty arthritis of the spine: clinical presentation and effective treatments. Geriatrics. 2000;55:71–4.
Paquette S, Lach B, Guiot B. Lumbar radiculopathy secondary to gouty tophi in the filum terminale in a patient with systemic gout: case report. Neurosurgery. 2000;46:986–8.
Gines R, Bates DJ. Tophaceous lumbar gout mimicking an epidural abscess. Am J Emerg Med. 1998;16:216.
Vargo J, Giampaolo C, Goldenberg DC. Tophaceous gout of the spine in a patient with no peripheral tophi: case report. Arthritis Rheum. 1985;28:1312–5.
Pascual E. The diagnosis of gout and CPPD crystal arthropathy. Br J Rheumatol. 1996;35:306–8.
Wolfe F, Cathey MA. The misdiagnosis of gout and hyperuricemia. J Rheumatol. 1991;18:1232–4.
Pascual E, Batele-Gualda E, Martinez A, Rosas J, Vela P. Synovial fluid analysis for diagnosis of intercritical gout. Ann Intern Med. 1999;131:756–9.
Weinberger A, Schumacher HR, Agudelo CA. Urate crystals in asymptomatic metatarsophalangeal joints. Ann Intern Med. 1991;91:56–7.
Ronault T, Caldwell DS, Holmes EW. Aspiration of the asymptomatic metatarsophalangeal joints in gout patients and hyperuricemic controls. Arthritis Rheum. 1982;25:209–12.
Pascual E. Persistence of monosodium urate crystals and low-grade inflammation in the synovial fluid of untreated gout. Arthritis Rheum. 1991;34:141–5.
Chopra KF, Schneiderman P, Grossman ME. Finger pad tophi. Cutis. 1999;64:233–6.
Marcen R, Gallego N, Orofino L, et al. Impairment of tubular secretion of urate in renal transplant patients on cyclosporine. Nephron. 1995;70:307–13.
Lin HY, Rocher LL, McQuilan MA, et al. Cyclosporine-induced hyperuricemia and gout. N Engl J Med. 1989;321:287–92.
Baethge BA, Work J, Landreneau MD, McDonald JC. Tophaceous gout in patients with renal transplants treated with cyclosporine A. J Rheumatol. 1993;20:2171.
Chaoui A, Garcia J, Kurt AM. Gouty tophus simulating soft tissue tumor in a heart transplant recipient. Skeletal Radiol. 1997;26:626–8.
Kennedy DT, Hayney MS, Lake KD. Azathioprine and allopurinol: the price of an avoidable drug interaction. Ann Pharmacother. 1996;30:951–3.
Jagose JT, Bailey RR. Muscle weakness due to colchicine in a renal transplant recipient. N Z Med J. 1997;110:343.
Tapal MF. Colchicine myopathy. Scand J Rheumatol. 1996;25:105.
Gruberg L, Har-Zahav Y, Agranat O, Freimark D. Acute myopathy induced by colchicine treated heart transplant recipient: possible role of the multidrug resistance transporter. Transplant Proc. 1999;31:2157–8.
Zurcher RM, Bock HA, Thiel G. Excellent uricosuric efficacy of benzbromarone in cyclosporine-A treated renal transplant patients: a prospective study. Nephrol Dial Transplant. 1994;9:549–51.
Loeb JN. The influence of temperature of the solubility of monosodium urate. Arthritis Rheum. 1972;15:189.
Kelley WN. Approach to the patient with hyperuricemia. In: Kelley WN, Harris Jr ED, Ruddy S, Sledge CB, editors. Textbook of rheumatology. Philadelphia: WB Saunders; 1981. p. 494.
Adler R, Robinson R, Pazdral P, Grushkin C. Hyperuricemia in diarrheal dehydration. Am J Dis Child. 1969;136:564.
Faller J, Fox IH. Ethanol-induced hyperuricemia. Evidence for increased urate production by activation of adenine nucleotide turnover. N Engl J Med. 1980;307:1598.
Weinberger A, Schumacher HR, Schimmer BM, et al. Arthritis in acute leukemia. Clinical and histopathological observations. Arch Intern Med. 1981;141:1183.
Dosman JA, Crawhall JC, Klassen GA. Uric acid kinetic studies in the immediate post-myocardial infarction period. Metabolism. 1975;24:473.
Levine SA, Gordon B, Derick CL. Some changes in the chemical constituents of the blood following a marathon race. JAMA. 1924;82:1778.
Schrier RW, Haus J, Keller HI, et al. Renal, metabolic and circulatory responses to heat and exercise. Ann Intern Med. 1970;73:213.
Knochel JP, Dotin LN, Hamburger RJ. Heat stress, exercise, and muscle injury: effects on urate metabolism and renal function. Ann Intern Med. 1974;81:321.
Quick AJ. The effect of exercise on excretion of uric acid. J Biol Chem. 1935;110:107.
Castenfors J. Renal function during exercise. Acta Physiol Scand Suppl. 1967;70:7.
Knochel JP. Biochemical, electrolyte, and acid–base disturbances in acute renal failure. In: Brenner BM, Lazarus JM, editors. Acute renal failure. New York: Churchill Livingstone; 1988. p. 682–3.
Lacocq FR, McPhaul JJ. Effects of starvation, high fat diets and ketone infusions on uric acid balance. Metabolism. 1965;14:186.
Ravioko KO. Neonatal hyperuricemia. J Pediatr. 1976;88:625.
Valat JP, Lamisse F, LeChevallier PL, et al. Les variations de l’uricemie au cours de’ compensations respiratories aigues des bronchopathies chroniques. Rev Rhum Mal Osteoartic. 1974;41:179.
Bergeaux G, Klein RC. Hyperuricemia following smoke inhalation. Am Rev Respir Dis. 1974;109:145.
Oliva PB. Lactic acidosis. Am J Med. 1970;48:209.
Saker BM, Tofler OB, Burvill MJ, Reilly KA. Alcohol consumption and gout. Med J Aust. 1967;1:1213.
Pell S, D’Alonzo CA. The prevalence of chronic disease among problem drinkers. Arch Environ Health. 1968;16:679.
Beck LH. Clinical disorders of uric acid metabolism. Med Clin North Am. 1981;65:401.
Puig JG, Fox IH. Ethanol-induced activation of adenine nucleotide turnover. Evidence for a role of acetate. J Clin Invest. 1984;74:936.
Shergy WJ, Gilkeson GS, German DC. Acute gouty arthritis and intravenous nitroglycerin. Arch Intern Med. 1988;148:2505.
Daly RJ, Camann WR, Dawley D, O’Rourke ME. “Cocktail”-coronary care. N Engl J Med. 1984;310:1123.
Dylewski JS, Gerson M. Hyperuricemia in patients with infectious mononucleosis. Can Med Assoc J. 1985;132:1169.
Byrd L, Sherman RL. Radiocontrast-induced acute renal failure: a clinical and pathophysiologic review. Medicine. 1979;58:270.
Alexander RD, Barkes SL, Abuelo G. Contrast media-induced oliguric renal failure. Arch Intern Med. 1978;138:381.
Krumlovsky FA, Simon N, Santhanam S, et al. Acute renal failure associated with administration of radiographic contrast material. JAMA. 1978;239:125.
Fang LS, Sirota RA, Ebert TH, Lichenstein NS. Low fractional excretion of sodium with contrast media-induced acute renal failure. Arch Intern Med. 1980;140:531.
Shafi T, Chou S-Y, Porush JS, Shapiro WB. Infusion intravenous pyelography and renal function. Effects in patients with chronic renal insufficiency. Arch Intern Med. 1978;138:1218.
Older RA, Korobkin M, Cleeve DM, et al. Contrast-induced acute renal failure. Persistent nephrogram as a clue to early detection. AJR Am J Roentgenol. 1980;134:339.
Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561.
Hoefnagel D, Andrew ED, Mireault NG, Berndt WO. Hereditary choreoathetosis, self-mutilation, and hyperuricemia in young males. N Engl J Med. 1965;273:130.
Michener WM. Hyperuricemia and mental retardation with athetosis and self-mutilation. Am J Dis Child. 1967;113:195.
Dreifuss FE, Newcombe DS, Shapiro SL, Sheppard GL. X-linked primary hyperuricemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy). J Ment Defic Res. 1968;12:100.
Munsat TL, Klinenberg J, Carrel RE, Menkes J. Defects in purine metabolism and neurologic disease. Bull Los Angeles Neurol Soc. 1968;33:101.
Berman PH, Balis ME, Dancis J. Congenital hyperuricemia, an inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation. Arch Neurol. 1969;20:44.
Rosenberg D, Monnet P, Mamelle JL, Colonbel M, et al. Encephalopathie avec troubles due metabolisme des purines. Presse Med. 1968;76:2333.
Riley JD. Gout and cerebral palsy in a three-year-old boy. Arch Dis Child. 1960;35:293.
Partington MW, Hennen BKE. The Lesch-Nyhan syndrome: self-destructive biting, mental retardation, neurological disorder and hyperuricemia. Dev Med Child Neurol. 1967;9:563.
Scherzer AL, Ilson JB. Normal intelligence in the Lesch-Nyhan syndrome. Pediatrics. 1969;44:116.
Buitelaar JK. Self-injurious behavior in retarded children: clinical phenomena and biological mechanisms. Acta Paedopsychiatr. 1993;56:105–11.
Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci USA. 1996;93:5539–43.
Harris JC, Lee RR, Jinnah HA, et al. Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. Arch Neurol. 1998;55:547–53.
Visser JE, Bar PR, Jinnah H. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000;32:449–75.
Roach ES, Delgado M, Anderson L, et al. Carbamazepine trial for Lesch-Nyhan self-mutilation. J Child Neurol. 1996;11:476–8.
Hernandez-Nieto L, Brito-Barraso ML, Nyhan WL. Megaloblastic anemia in Lesch-Nyhan disease. Sangre. 1984;29:476.
Van der Zee SPM, Monnens LAH, Schretlen EDAM. Hereditary disorder of purine metabolism with cerebral affection and megaloblastic anemia. Ned Tijdschr Geneeskd. 1968;112:1475.
Kelley WN, Greene ML, Rosenbloom FM, et al. Hypoxanthine-guanine phosphoribosyltransferase in gout. Ann Intern Med. 1969;70:155.
Schneider W. The Lesch-Nyhan syndrome as a rare cause of hemolytic anemia. Acta Med Austriaca. 1979;6:202.
Van der Zee SPM, Schretlen EDAM, Monnens LAH. Megaloblastic anemia in the Lesch-Nyhan syndrome. Lancet. 1968;1:1427.
Zoref-Shani E, Feinstein S, Frishberg Y, et al. Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. Biochim Biophys Acta. 2000;1500:197–203.
Wingen RM, Loffler W, Waldherr R, Scharer K. Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Proc Eur Dial Transplant Assoc Eur Ren Assoc. 1985;21:751–5.
Sperling O, Boer P, Persky-Brosh S, et al. Altered kinetic property of erythrocyte phosphoribosyl-pyrophosphate synthetase in excessive purine production. Rev Eur Etud Clin Biol. 1972;17:703.
Becker MA, Losman MJ, Kim M. Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases. J Biol Chem. 1987;262:5596.
Zoref E, de Vries A, Sperling O. Mutant feedback-resistant phosphoribosylpyrophosphate synthetase with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. J Clin Invest. 1975;56:1093.
Ahmed M, Taylor W, Smith PR, Becker MA. Accelerated transcription of PRS1 in x-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. J Biol Chem. 1999;274:7482.
Becker MA, Puig JG, Mateos FA, et al. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am J Med. 1988;85:393.
Becker MA, Raivio KO, Bakay B, et al. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest. 1980;65:109.
Simmonds HA, Webster DR, Lingham S, Wilson J. An inborn error of purine metabolism, deafness and neurodevelopmental abnormality. Neuropediatrics. 1985;16:106.
Becker MA, Smith PR, Taylor W, et al. The genetic and functional basis of purine nucleotide feedback resistant phosphoribosylpyrophosphate synthetase superactivity. J Clin Invest. 1995;96:2133.
Zoref E, de Vries A, Sperling O. Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase. Nature. 1976;260:787.
Yen RCK, Adams WB, Lazar C, Becker MA. Evidence for x-linkage of human phosphoribosyl-pyrophosphate synthetase. Proc Natl Acad Sci USA. 1978;75:482.
Simmonds HA, Webster DR, Wilson J, Lingham S. An X-linked syndrome characterized by hyperuricaemia, deafness, and neurodevelopmental abnormalities. Lancet. 1982;2:68.
Henderson JF, Caldwell IC, Patterson ARP. Decreased feedback inhibition in a 6-methylmercaptopurine ribonucleoside-resistant tumor. Cancer Res. 1967;27:1773.
Nagy M. Regulation of the biosynthesis of purine nucleotides in Schizosaccharomyces pombe. I. Properties of the phosphoribosylpyrophosphate: glutamine amidotransferase of the wild strain and of a mutant desensitized towards feedback modifiers. Biochim Biophys Acta (Amst). 1971;198:471.
Fox IH. Metabolic basis for disorders of purine nucleotide degradation. Metabolism. 1981;30:616.
Fox IH, Palella TD, Kelley WN. Hyperuricemia: a marker for cell energy crisis. N Engl J Med. 1987;317:111.
Fox IH. Adenosine triphosphate degradation in specific disease. J Lab Clin Med. 1985;106:101.
Alexander D, Assaf M, Khudr A, et al. Fructose-1,6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods. J Inherit Metab Dis. 1985;8:147.
Gitzelmann R, Steinmann B, Van den Berghe G. Disorders of fructose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc; 1995. p. 905–34.
Melancon SB, Khachadurian AK, Nadler HL, Brown BI. Metabolic and biochemical studies in fructose-1,6-diphosphatase deficiency. J Pediatr. 1973;82:650.
Baerlocher K, Gitzelmann R, Nassli R, Dumermuth G. Infantile lactic acidosis due to hereditary fructose-1,6-diphosphatase deficiency. Helv Paediatr Acta. 1971;26:489.
Hopwood NJ, Holzman I, Drash AL. Fructose-1,6-diphosphatase deficiency. Am J Dis Child. 1977;131:418.
Corbell L, Eggermont E, Eeckels R, et al. Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency. Acta Paediatr Belg. 1976;29:29.
Corbell LM, Eggermont E, Bettens W, et al. Fructose intolerance with normal liver aldolase. Helv Paediatr Acta. 1970;25:626.
Steinmann B, Gitzelmann R. Fruktose und sorbitol infusions flussigkeiten sind nicht immer hamlos. Int J Vitam Nutr Res Suppl. 1976;15:239.
Woolliscroft JO, Colfer H, Fox IH. Hyperuricemia in acute illness: a poor prognostic sign. Am J Med. 1982;72:58.
Woolliscroft JO, Fox IH. Increased body fluid purines during hypotensive events: evidence for ATP degradation. Am J Med. 1986;81:472.
Grum CM, Simon RH, Dantzker DR, Fox IH. Biochemical indicators of cellular hypoxia in critically ill patients: evidence for ATP degradation. Chest. 1985;88:763.
Braunwald E, Kloner RA. Myocardial reperfusion: a double-edged sword? J Clin Invest. 1985;76:1713.
Christensen EF, Jacobsen J, Anker-Moller E, et al. Increased urinary loss of uric acid in adults with acute respiratory failure requiring mechanical ventilation. Chest. 1992;102:556.
Braghiroli A, Sacco C, Erbetta M, et al. Overnight urinary uric acid: creatinine ration for detection of sleep hypoxemia. Validation study in chronic obstructive pulmonary disease and obstructive sleep apnea before and after treatment with nasal continuous positive airway pressure. Am Rev Respir Dis. 1993;148:173.
Mateos AF, Puig JG, Gomez Fernandez P, et al. Degradation of purine nucleotides in patients with chronic obstructive airflow. Med Clin (Barc). 1989;92:328.
Karlsson J, Willerson JT, Leshin SJ, et al. Skeletal muscle metabolites in patients with cardiogenic shock or severe congestive heart failure. Scand J Clin Lab Invest. 1975;35:73.
Buhl L, Vilhelmsen KN, Nielsen JR. Oxypurine release in cardiac disease. Acta Med Scand. 1981;209:83.
Sangstad OD. Hypoxanthine as a measurement of hypoxia. Pediatr Res. 1975;9:158.
Harkness RA, Simmonds RJ, Coade SB, Lawrence CR. Ratio of the concentration of hypoxanthine to creatinine in urine from newborn infants: a possible indicator for the metabolic damage due to hypoxia. Br J Obstet Gynaecol. 1983;90:447.
Harkness RA, Whitelow AGL, Simmonds RJ. Intrapartum hypoxia: the association between neurological assessment of damage and abnormal excretion of ATP metabolites. J Clin Pathol. 1982;35:999.
Manzke H, Dorner K, Grunitz J. Urinary hypoxanthine, xanthine and uric acid excretion in newborn infants with perinatal complications. Acta Paediatr Scand. 1977;66:713.
Jensen MH, Brinklov MM, Lillquist K. Urinary loss of oxypurines in hypoxic premature neonates. Biol Neonate. 1980;38:40.
Raivio KO. Neonatal hyperuricemia. J Pediatr. 1976;88:625.
Swanstrom S, Bratteby L. Hypoxanthine as a test of perinatal hypoxia as compared to lactate, base deficit, and pH. Pediatr Res. 1982;16:156.
Thiringer K. Cord plasma hypoxanthine as a measure of foetal asphyxia. Acta Paediatr Scand. 1983;72:231.
Fruhmann G, Fritz H, Bergstermann H. Homozygous inherited alpha1-antitrypsin deficiency with emphysema of the lung, cor pulmonale, and gout. Klin Wochenschr. 1974;52:80.
Kohkhar N. Hyperuricemia and gout in secondary polycythemia due to chronic obstructive pulmonary disease. J Rheumatol. 1980;7:114.
Ball GV, Sorensen LB. Pathogenesis of hyperuricemia and gout in sickle cell anemia. Arthritis Rheum. 1970;13:846.
March HW, Schylen SM, Schwartz SE. Mediterranean hemopathic syndromes (Cooley’s anemia) in adults: study of a family with unusual complications. Am J Med. 1952;13:46.
Paik CH, Alavi I, Dunea G, Weiner L. Thalassemia and gouty arthritis. JAMA. 1970;213:296.
Hickling RA. Gout, leukemia, and polycythaemia. Lancet. 1953;1:57.
Talbott JH. Gout. New York: Grune & Stratton; 1957.
Yu TF. Secondary gout associated with myeloproliferative disease. Arthritis Rheum. 1965;8:765.
Bronsky D, Bernstein A. Acute gout secondary to multiple myeloma: a case report. Ann Intern Med. 1954;41:820.
Somerville J. Gout in cyanotic congenital heart disease. Br Heart Med. 1961;23:31.
Zimmer JG, Demus DJ. Associations between gout, psoriasis and sarcoidosis: with consideration of their pathologic significance. Ann Intern Med. 1966;64:786.
Van den Berghe G, Hers HG. Abnormal AMP deaminase in primary gout. Lancet. 1980;2:1090.
Hers HG, Van den Berghe G. Enzyme defect in primary gout. Lancet. 1979;1:585.
DiMauro S, Miranda AF, Hays AP, et al. Myoadenylate deaminase deficiency – muscle biopsy and muscle culture in a patient with gout. J Neurol Sci. 1980;47:191–202.
Sabina RL, Swain JL, Olanow CW, et al. Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. J Clin Invest. 1984;73:720. 30.
Sabina RL, Holmes EW. Myoadenylate deaminase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc; 1995. p. 1769–80.
Talente GM, Coleman RA, Alter C, et al. Glycogen storage disease in adults. Ann Intern Med. 1994;120:218.
Abarbanel JM, Potashnik R, Frisher S, et al. Myophosphorylase deficiency: the course of an unusual congenital myopathy. Neurology. 1987;37:316.
Zanella A, Mariani M, Meola G, Fagnani G, Sirchia G. Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit. Am J Hematol. 1982;12:215–25.
Tarui S, Okuno G, Ikura Y, et al. Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem Biophys Res Commun. 1963;19:517–23.
Ambrose DR, McCabe ER, Anderson D, Beaudet A, et al. Infections and bleeding complications in patients with glycogenosis Ib. Am J Dis Child. 1985;139:691–7.
Soejimak K, Landing BH, Roe TF, Swanson VL. Pathologic studies of the osteoporosis of Von Gierke’s disease (glycogenosis Ia). Pediatr Pathol. 1985;3:307–19.
De Parscau L, Guiband P, Labrime P, Odievre M. Long-term course of hepatic glycogenosis. A retrospective study of 76 cases. Arch Fr Pediatr. 1988;45:641–5.
Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med. 1988;318:7–11.
Baker L, Dahlem S, Goldfarb S, et al. Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int. 1989;5:1345–50.
Restaino I, Kaplan BS, Stanley C, et al. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr. 1993;122:392.
Matsuo N, Tsuchiya Y, Cho H, et al. Proximal renal tubular acidosis in a child with type 1 glycogen storage disease. Acta Paediatr Scand. 1986;75:332.
Chen YT, Scheinman JI, Park HK, et al. Amelioration of proximal renal tubular dysfunction in type 1 glycogen storage disease with dietary therapy. N Engl J Med. 1990;323:590.
Howell RR, Stevenson RE, Ben-Menachem Y, Phyliky RL, Berry DH. Hepatic adenomata with type I glycogen storage disease. JAMA. 1976;236:1481.
Limmer J, Fleig WE, Leupold D, et al. Hepatocellular carcinoma in type I glycogen storage disease. Hepatology. 1988;8:531.
Fink AS, Appelman HD, Thompson NW. Hemorrhage into a hepatic adenoma and type Ia glycogen storage disease: a case report and review of the literature. Surgery. 1985;97:117.
Levy E, Thibault LA, Roy CC, et al. Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding. J Lipid Res. 1988;29:215.
Beaudet AL, Anderson DC, Michelis VV, Arion WJ, Lange AJ. Neutropenia and impaired neutrophil migration in type Ib glycogen storage disease. J Pediatr. 1980;97:906.
Bartram CR, Przyrembel H, Wendel U, et al. Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia. Eur J Pediatr. 1981;137:81.
Murase T, Ikeda H, Muro T, Nakao K, Sugita H. Myopathy associated with type III glycogenosis. J Neurol Sci. 1973;20:287.
Brunberg JA, McCormick WF, Schochet SS. Type III glycogenosis. An adult with diffuse weakness and muscle wasting. Arch Neurol. 1971;25:171.
Moses SW, Gadoth N, Bashan N, et al. Neuromuscular involvement in glycogen storage disease type III. Acta Paediatr Scand. 1986;75:289.
Moses SW, Wanderman KL, Myroz A, Frydman M. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr. 1989;148:764.
Coleman RA, Winter HA, Wolf B, et al. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 1992;116:896.
DiMauro S, Hartwig GB, Hays A, et al. Debrancher deficiency: neuromuscular disorder in 5 adults. Ann Neurol. 1979;5:422.
Cornelio F, Bresolin N, Singer PA, et al. Clinical varieties of neuromuscular disease in debrancher deficiency. Arch Neurol. 1971;25:171.
Labrime PL, Huguet P, Odievre M. Cardiomyopathy in glycogen-storage disease type III: clinical and echocardiographic study of 18 patients. Pediatr Cardiol. 1991;12:161.
Olson LJ, Reeder GS, Noller KL, et al. Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol. 1984; 53:980.
Miller CG, Alleyne GA, Brooks SEH. Gross cardiac involvement in glycogen storage disease type III. Br Heart J. 1972;34:862.
van Crevold S. The Blackader lecture, 1961: the clinical course of glycogen disease. Can Med Assoc J. 1963;88:1–15.
Mineo I, Kono N, Hara N, et al. Myogenic hyperuricemia. A common pathologic feature of glycogenosis type III, V and VII. N Engl J Med. 1987;317: 75–80.
Puig JG, de Miguel E, Mateos FA, et al. McArdle’s disease and gout. Muscle Nerve. 1992;15:822–8.
Hardiman O, Farrell M, McElvaney G, et al. Hyperuricemia in type V glycogenosis. Neurology. 1987;37:728–9.
Servidei S, DiMauro S. Disorders of glycogen metabolism of muscle. Neurol Clin. 1989;7:159–78.
Moses SW. Muscle glycogenosis. J Inherit Metab Dis. 1990;13:452.
Pourmand R, Sanders DB, Corwin HM. Late-onset McArdle’s disease with unusual electromyographic findings. Arch Neurol. 1983;40:374.
Hewlett RH, Gardner-Thorpe C. McArdle’s Disease – what limit to the age of onset? S Afr Med J. 1978;53:60.
Mineo I, Kono N, Shimizu T, et al. Excess purine degradation in exercising muscles of patients with glycogen storage disease types V and VII. J Clin Invest. 1985;76:556–60.
Jinnai K, Kono N, Yamamoto Y, et al. Glycogenosis type V (McArdle’s disease) with hyperuricemia. Eur Neurol. 1993;33:204–7.
Higgs JB, Blaivas M, Albers JW. McArdle’s disease presenting as treatment resistant polymyositis. J Rheumatol. 1989;16:1588.
Vora S, Davidson M, Seaman C, et al. Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. J Clin Invest. 1983;72: 1995–2006.
Hays AP, Hallet M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology (NY). 1981;31:1077–86.
Agamanolis DP, Askari AD, DiMauro S, et al. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein. Muscle Nerve. 1980;3:456–67.
Zanella A, Mariani M, Meola G, et al. Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit. Am J Hematol. 1982;12:215–25.
Nakagawa C, Mineo I, Kaido M, et al. A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. Muscle Nerve. 1995;3:539–44.
Danon MJ, Servidei S, DiMauro S, Vora S. Late-onset muscle phosphofructokinase deficiency. Neurology. 1988;38:956.
Serratrice G, Monges A, Roux H, et al. Forme myopathique du deficit en phosphofructokinase. Rev Neurol. 1969;120:271.
Servidei S, Bonilla E, Diedrick RG, et al. Fatal infantile form of muscle phosphofructokinase deficiency. Neurology. 1986;36:1465.
Danon MJ, Carpenter S, Manaligod JR, Schlisefeld LH. Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology. 1981;31:1303.
Vora S, Corash L, Engel WK, et al. The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Blood. 1980;55:629–35.
Shimizu T, Kono N, Kiyokawa H, et al. Erythrocyte glycolysis and its marked alterations by muscular exercise in type VII glycogenosis. Blood. 1988;71:1130.
Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med. 1991;324:364.
Tarui S, Kono N, Kuwajima M, Ikura Y. Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency). Monogr Hum Genet. 1978;9:42–7.
Tarui S, Kono N, Nasu T, Nishikawa M. Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited phosphofructokinase deficiency. Biochem Biophys Res Commun. 1969;34:77–83.
Tem I. Metabolic myopathies. Pediatr Neurol. 1996;3:53–98.
DiMauro S, Miranda AF, Khan S, et al. Human muscle phosphoglycerate mutase deficiency and myoadenylate deaminase deficiency. Science. 1981;212:1277–9.
Bertorini TE, Shively V, Taylor B, et al. ATP degradation products after ischemic exercise: hereditary lack of phosphorylase or carnitine palmitoyltransferase. Neurology. 1985;35:1355–7.
Abaranel JM, Bashan N, Potashnik R, et al. Adult phosphorylase b kinase deficiency. Neurology. 1986;36:560.
Servidei S, Metlay LA, Booth FA, et al. Clinical and biochemical heterogeneity of phosphorylase kinase deficiency. Neurology. 1987;37 Suppl 1:139.
Clemens PR, Yamamoto M, Engel AG. Adult phosphorylase b kinase deficiency. Ann Neurol. 1990;28:529.
Laforet P, Eymard B, Lombes A, et al. Intolerance a l’effort par deficit en phosphorylase b kinase musculaire. Apport des investigations metaboliques in vivo. Rev Neurol (Paris). 1996;152:458–64.
Fukuda T, Sugie H, Sugie Y, et al. Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis. No To Hattatsu. 1994;26:493–7.
Wilkinson DA, Tonin P, Shanske S, et al. Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. Neurology. 1994;44:461–6.
Carrier H, Maire I, Vial C, et al. Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency. Acta Neuropathol (Berlin). 1990;81:84–8.
Van den Berg IF, Berger R. Phosphorylase b kinase deficiency in man: a review. J Inherit Metab Dis. 1990;13:442–51.
Madloni M, Berley GT, Cohen PT, Marrian VJ. Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Eur J Pediatr. 1989;149:52–3.
Keating JP, Brown BI, White NH, DiMauro S. X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. Am J Dis Child. 1985;139:609–13.
Sugie H, Sugie Y, Nishida M, et al. Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. J Child Neurol. 1989;4:95–9.
Tonin P, Shanske S, Miranda AF, et al. Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta). Neurology. 1993;43:387–91.
Rosa R, George C, Fardeau M, et al. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood. 1982;60:84–91.
Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency. Muscle Nerve. 1995;8:545–9.
DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol. 1983;13:11–9.
Fujii H, Miwa S. Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. Baillieres Best Pract Res Clin Haematol. 2000;13:141–8.
Aasly J, van Diggelen OP, Boer AM, Bronstad G. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol. 2000;7:111–3.
Toscano A, Tsujino S, Vita G, et al. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in an Italian kindred. Muscle Nerve. 1996;19:1134–7.
Bresolin N, Ro Y, Reyes M, et al. Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. Neurology. 1983;33:1049–53.
Tsujino S, Shanske S, Sakoda S, et al. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993;52:472–7.
Poulton KR, Khan AA, Rossi ML, Riddoch D. Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy. Funct Neurol. 1994;9:47–58.
DiMauro S, Miranda AF, Olarte M, et al. Muscle phosphoglycerate mutase deficiency. Neurology. 1982;32:584–91.
Tsujino S, Shanske S, Sakoda S, et al. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle Nerve. 1995;3:S50–3.
DiMauro S, Miranda AF, Khan S, et al. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science. 1981;212:1277–9.
Kanno T, Sudo K, Takeuchi I, et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta. 1980;108:267–76.
Miyajima H, Shimizu T, Kaneko E. Gene expression in lactate dehydrogenase-A subunit deficiency. Rinsho Shinkeigaku. 1992;32:1087–92.
Miyajima H, Takahashi Y, Suzuki M, et al. Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. Neurology. 1993;43:1414–9.
Miyajima H, Takahashi Y, Kaneko E. Characterization of the oxidative metabolism in lactate dehydrogenase A deficiency. Intern Med. 1995;34:502–6.
Miyajima H, Takahashi Y, Kaneko E. Characterization of the glycolysis in lactate dehydrogenase-A deficiency. Muscle Nerve. 1995;18:874–8.
Takahashi Y, Miyajima H, Kaneko E. Genetic analysis of a family of lactate dehydrogenase-A subunit deficiency. Intern Med. 1995;34:326–9.
Takahashi Y, Fujiwara S, Waki T. Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. J Am Acad Dermatol. 1991;24:339–42.
Yoshikuni K, Tagami H, Yamada M, et al. Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. Arch Dermatol. 1986;122:1420–4.
Kanno T, Maekawa M. Lactate dehydrogenase M-subunit deficiencies: clinical features, metabolic background, and genetic heterogeneities. Muscle Nerve. 1995;3:S54–60.
DiMauro S, DiMauro PMM. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science. 1973;182:929.
Demaugre F, Bonnefont JP, Colonna M, et al. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death Physiopathological approach to carnitine palmitoyltransferase II deficiency. J Clin Invest. 1991;87:859.
Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med. 1991;325:1862.
Zinn AB, Zurcher VL, Krans F, et al. Carnitine palmitoyltransferase B (CPT B) deficiency: a heritable cause of neonatal cardiomyopathy and dysgenesis of the kidney. Pediatr Res. 1991;29:73A.
Katzir Z, Hookman B, Biro A, et al. Carnitine palmitoyltransferase deficiency: an underdiagnosed condition. Am J Nephrol. 1996;16:162–6.
Faigel HC. Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review. J Am Coll Health. 1995;44:51–4.
Stavem K, Bjerke G, Skullerud K, Bohmer T. Rhabdomyolysis in carnitine palmitoyltransferase deficiency. Tidsskr Nor Laegeforen. 1994;114:2398–9.
Kiechl S, Kohlendorfer U, Paetzke I, et al. Myoglobinuria and palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis. Wien Klin Wochenschr. 1994;106:174–7.
Werneck LC, Boer CA, Papadimitriou A, DiMauro S. Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue. Arq Neuropsiquiatr. 1983;41:377–84.
Herman J, Nadler HL. Recurrent myoglobinuria and muscle carnitine palmitoyltransferase deficiency. J Pediatr. 1977;91:247–50.
Kieval RI, Sotrel A, Weinblatt ME. Chronic myopathy with a partial deficiency of the carnitine palmitoyltransferase enzyme. Arch Neurol. 1990;46:575–6.
Carroll JE, Brooke MH, DeVivo DC, et al. Biochemical and physiologic consequences of carnitine palmitoyltransferase deficiency. Muscle Nerve. 1978;1:103–10.
Layzer RB, Havel RJ, McIlroy MB. Partial deficiency of carnitine palmitoyltransferase: physiologic and biochemical consequences. Neurology. 1980;30:627–33.
Gieron MA, Karthais JK. Carnitine palmitoyltransferase deficiency with permanent weakness. Pediatr Neurol. 1987;3:51–3.
Wyngaarden JB, Kelley WN. Gout and hyperuricemia. New York: Grune & Stratton, Inc.; 1976. p. 111–7.
Sorensen LB. The pathogenesis of gout. Arch Intern Med. 1962;109:379.
Steele TH, Boner G. Origins of the uricosuric response. J Clin Invest. 1973;52:168.
Diamond HS, Paolino JS. Evidence for a post-secretory reabsorptive site for uric acid in man. J Clin Invest. 1973;52:1491.
Steele TH. Urate secretion in man: the pyrazinamide suppression test. Ann Intern Med. 1973;79:734.
Rieselbach RE, Steele TH. Influence of the kidney upon urate homeostasis in health and disease. Am J Med. 1974;56:665.
de Rougement D, Henchoz M, Roch-Rumel F. Renal urate excretion at various plasma concentrations in the rat: a free-flow micropuncture study. Am J Physiol. 1976;231:387.
Weinman EJ, Senekjian HO, Sansom SC, et al. Evidence for active and passive urate transport in the rat proximal tubule. Am J Physiol. 1981;240:F90.
Sorensen LB, Levinson DJ. Isolated defect in postsecretory reabsorption of uric acid. Ann Rheum Dis. 1980;39:180.
Gibson T, Sims HP, Jiminez SA. Hypouricemia and increased renal urate clearance associated with hyperparathyroidism. Ann Rheum Dis. 1976;35:372.
Wyngaarden JB, Kelley WN. Gout. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, Inc; 1983. p. 1043–5.
Gutman AB, Yu TF. Renal function in gout: with a commentary on the renal regulation of urate excretion and the role of the kidney in the pathogenesis of gout. Am J Med. 1957;23:600.
Simkin PA. Uric acid excretion in patients with gout. Arthritis Rheum. 1979;22:98.
Nugent CA, MacDiarmid WD, Tyler FH. Renal excretion of urate in patients with gout. Arch Intern Med. 1964;113:115.
Houpt JB, Ogryzlo MA. Persistence of impaired uric acid excretion in gout during reduced synthesis with allopurinol. Arthritis Rheum. 1964;7:316.
Snaith ML, Scott JT. Uric acid clearance in patients with gout and normal subjects. Ann Rheum Dis. 1971;30:285.
Seegmiller JE, Grayzel AI, Howell RR, Plato C. The renal excretion of uric acid in gout. J Clin Invest. 1962;41:1094.
Lathem W, Rodnan GP. Impairment of uric acid excretion in gout. J Clin Invest. 1962;41:1955.
Wyngaarden JB. Gout. Adv Metab Disord. 1965;2:2.
Simkin PA. Urate excretion in normal and gouty men. In: Miller MM, Kaiser E, Seegmiller JE, editors. Purine metabolism in man II. New York: Plenum; 1977. p. 41.
Yu TF, Berger L, Stone DJ, et al. Effects of pyrazinamide and pyrazinoic acid on urate clearance and other discrete renal functions. Proc Soc Exp Biol Med. 1957;96:264.
Steele TH, Reiselbach RE. The contribution of residual nephrons within the chronically diseased kidney to urate homeostasis in man. Am J Med. 1967;43:876.
Steele TH. Evidence for altered renal urate reabsorption during changes in volume of the extracellular fluid. J Lab Clin Med. 1969;74:228.
Suki WN, Eknoyan G, Martinez-Maldonado M. Tubular sites and mechanisms of diuretic action. Annu Rev Pharmacol. 1973;13:91.
Steele TH, Oppenheimer S. Factors affecting urate excretion following diuretic administration in man. Am J Med. 1969;47:564.
Yu TF, Gutman AB. Study of the paradoxical effects of salicylate in low, intermediate and high dosage on the renal mechanisms for excretion of urate in man. J Clin Invest. 1959;38:1298.
Goldfinger S, Klinenberg JR, Seegmiller JE. Renal retention of uric acid induced by infusion of beta-hydroxybutyrate and acetoacetate. N Engl J Med. 1965;272:351.
Schulman JD, Lustberg TJ, Kennedy JL, et al. A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation. Am J Med. 1970;49:118.
Yu TF, Sirota JH, Berger L, et al. Effect of sodium lactate infusion on urate clearance in man. Proc Soc Exp Biol Med. 1957;96:809.
Talbott JH, Terplan KL. The kidney in gout. Medicine. 1960;39:405–62.
Beck LH. Requiem for gouty nephropathy. Kidney Int. 1986;30:280.
Foley RJ, Weinman EJ. Review: urate nephropathy. Am J Med Sci. 1984;288:208.
Gudzent F. Gicht and rheumatismus. Berlin: Springer; 1928.
Mayne JG. Pathological study of the renal lesion found in 27 patients with gout. Ann Rheum Dis. 1955;15:61.
Yu TF, Berger L, Dorph DJ. Renal function in gout. V. Factors influencing renal hemodynamics. Am J Med. 1979;67:766.
Yu TF, Berger L. Renal function in gout. Its association with hypertensive vascular disease and intrinsic renal disease. Am J Med. 1982;72:95.
Campbell BC, Moore MR, Goldberg A. Subclinical lead exposure: a possible cause of gout. Br Med J. 1978;2:1403.
Batuman V, Maesaka JK, Haddad B, et al. The role of lead in gout nephropathy. N Engl J Med. 1981;304:520.
Hall AP, Barry DP, Dawber TR, McNamara PM. Epidemiology of gout and hyperuricemia; a long-term population study. Am J Med. 1967;42:27.
Fessel WJ. Renal outcomes in gout and hyperuricemia. Am J Med. 1979;67:74.
Fessel WJ, Barr GD. Uric acid, lean body weight, and creatinine interactions. Results from regression analyses of 78 variables. Semin Arthritis Rheum. 1970;7:115.
Campion EW, Glynn RJ, DeLabry LO. Asymptomatic hyperuricemia. Risks and consequences in the Normative Aging Study. Am J Med. 1987;82:421.
Berger L, Yu TF. Renal function in gout. IV. An analysis of 524 gouty subjects including long-term follow-up studies. Am J Med. 1975;59:605.
Palella TD, Fox IH. Hyperuricemia and gout. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill, Inc.; 1989. p. 971.
Heptinstall RH. Pathology of the kidney. Boston: Little, Brown; 1966.
Seegmiller JE, Frazier PD. Biochemical considerations of the renal damage of gout. Ann Rheum Dis (Suppl). 1966;25:668–72.
Gonick HC, Rubini ME, Gleason IO, Sommers SC. The renal lesion in gout. Ann Intern Med. 1965;62:667.
Pardo V, Perez-Stable E, Fisher ER. Ultrastructure studies in hypertension. III. Gouty nephropathy. Lab Invest. 1968;18:143.
Verger D, Leroux-Robert GP, Richet G. Depots d’urate intrarenaux chez les insuffisants renaux chroniques hyperuricemiques. Urol Nephrol. 1967;73:314.
Linnane JW, Burry AF, Emmerson BT. Urate deposits in the renal medulla: prevalence and associations. Nephron. 1981;27:216–22.
Mukarami T, Kawakami H, Nakatsuda K, et al. Underexcretory-type hyperuricemia, disproportionate to the reduced glomerular filtration rate, in two boys with mild proteinuria. Nephron. 1990;56:439–42.
Farebrother DA, Pincott JR, Simmonds HA, et al. Uric acid crystal-induced nephropathy: evidence for a specific renal lesion in a gouty family. J Pathol. 1981;135:159–68.
Iwata J. Hyperuricemia in hematological disorders. Nippon Rinsho. 1996;54:3349–53.
Agha-Razii M, Amyot SL, Pichette V, et al. Continuous veno-venous hemodiafiltration for the treatment of spontaneous tumor lysis syndrome complicated by acute renal failure and severe hyperuricemia. Clin Nephrol. 2000;54:59–63.
Cohen LF, Balow JE, Magrath IT, et al. Acute tumor lysis syndrome. A review of 37 patients with Burkitt’s lymphoma. Am J Med. 1980;68:486–91.
Dubovsky D, Jacobs P. Acute uric acid nephropathy in thalessaemia. S Afr Med J. 1975;49:243–4.
Conger JD. Acute uric acid nephropathy. Med Clin North Am. 1990;74:859–71.
Barton JC. Tumor lysis syndrome in nonhematopoietic neoplasms. Cancer. 1989;64:738–40.
Hande KR, Garrow GC. Acute tumor lysis syndrome in patients with high grade non-Hodgkin’s lymphoma. Am J Med. 1993;94:133–8.
Kjellstrand CM, Campbell DC, von Hartikch B, Buselmeier TJ. Hyperuricemic acute renal failure. Arch Intern Med. 1974;133:349.
Chastyl RC, Liu-Yin JA. Acute tumor lysis syndrome. Br J Hosp Med. 1993;49:488–92.
Warren DJ, Leitch AG, Leggett RJE. Hyperuricaemic acute renal failure after epileptic seizures. Lancet. 1975;2:385–7.
Hess B, Binswanger U. Acute uric acid nephropathy in two gouty patients with moderate hyperuricemia and high urine acidity. Klin Wochenschr. 1990;68: 874–9.
Alexopoulos E, Tampakoudis P, Bili H, Mantalenakis S. Acute uric acid nephropathy in pregnancy. Obstet Gynecol. 1992;80:488–9.
Tomlinson GC, Solberg Jr LA. Acute tumor lysis syndrome with metastatic medulloblastoma. A case report. Cancer. 1984;53:1783.
Andreoli SP, Clark JH, McGuire WA, Bergstein JM. Purine excretion during turnover lysis in children with acute lymphocytic leukemia receiving Allopurinol: relationship to acute renal failure. J Pediatr. 1986;109:292.
Albertazzi A, Cappelli P, Paolo B. Nonsteroidal anti-inflammatory drugs as risk factor for renal failure from acute uric acid nephropathy. Nephron. 1987; 46:98.
Kelton J, Kelley WN, Holmes EW. A rapid method for the diagnosis of acute uric acid nephropathy. Arch Intern Med. 1978;138:612–5.
Gabow PA. Definition and history of polycystic kidney disease. In: Watson ML, Torres VE, editors. Polycystic kidney disease. Oxford: Oxford University Press; 1996. p. 333–55.
Parfrey PS, Bear JC, Morgan J, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med. 1990;323:1085–90.
Newcombe DS. Gouty arthritis and polycystic kidney disease. Ann Intern Med. 1973;79:605–6.
Martinez-Maldonado M. Polycystic kidney disease and hyperuricemia. Ann Intern Med. 1974;80:116.
Torres VE, Wilson DM, Hattery RR, Segura JW. Renal stone disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1993;22:513.
Torres VE, Erickson SB, Smith LH, et al. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1988;11:318.
Martinez-Maldonado M, Yium JJ, Eknovan G, Suki WN. Adult polycystic kidney disease: studies of the defect in urine concentration. Kidney Int. 1972;2:107.
Gabow PA, Kaehny WB, Johnson AM, et al. The clinical utility of renal concentrating capacity in polycystic kidney disease. Kidney Int. 1989;35:675–80.
Elzinga LW, Barry JM, Torres VE, et al. Cyst decompression for autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1992;2:1219.
Schwab SJ, Bander SJ, Klahr S. Renal infection in autosomal dominant polycystic kidney disease. Am J Med. 1987;82:714–8.
Everson GT. Hepatic cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1993;22:250.
Sherstha R, McKinley C, Russ P, et al. Post menopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology. 1997; 26:1282–6.
Torres VE, Rastogi S, King BF, et al. Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1994;5:1186–92.
Everson GT, Scherzinger A, Berger-Leff N, et al. Polycystic liver disease: quantitation of parenchymal and cyst volume from computed tomography and clinical correlates of hepatic cysts. Hepatology. 1988;8:1627.
Que F, Nagorney DM, Gross JB, Torres VE. Liver resection and cyst fenestration in the treatment of severe polycystic liver disease. Gastroenterology. 1995;108:487–94.
Scheff RT, Zuckerman G, Harter H, et al. Diverticular disease in patients with chronic renal failure due to polycystic kidney disease. Ann Intern Med. 1980;92:202.
Dominguez Fernandez E, Albrecht KH, Heeman U, et al. Prevalence of diverticulosis and incidence of bowel perforation after kidney transplantation in patients with polycystic kidney disease. Transpl Int. 1998;11:28–31.
Gabow PA, Johnson AM, Kaehny WD, et al. Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int. 1992;41:1311.
Johnson AM, Gabow PA. Identification of patients with autosomal dominant polycystic disease at highest risk for end-stage renal disease. J Am Soc Nephrol. 1997;8:1560–7.
Reeders ST, Breuning MH, Davies ICE, et al. A highly polymorphic marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985;317:542–4.
Gretz N, Zeier M, Geberth S, et al. Is gender a determinant for evaluation of renal failure? A study of autosomal dominant polycystic kidney disease. Am J Kidney Dis. 1989;14:178.
Leier CV, Baker PB, Kelman JW, Wooley CF. Cardiovascular abnormalities associated with autosomal dominant polycystic kidney disease (ADPKD). Kidney Int. 1987;31:203.
Hadimeri H, Lamm C, Nyberg G. Coronary aneurysms in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1998;9:8370841.
Chapman JR, Hilson AJW. Polycystic kidneys and abdominal aortic aneurysms. Lancet. 1980;1:646.
Montolini J, Torras A, Revert L. Polycystic kidneys and abdominal aortic aneurysms. Lancet. 1982;1:1133.
Torra R, Nicolau C, Badenas C, et al. Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1996;7:2483–6.
Hossock KF, Leddy CL, Schrier RW, Gabow PA. Incidence of cardiac abnormalities associated with autosomal dominant polycystic kidney disease (ADPKD). Kidney Int. 1987;31:203.
Chapman AB, Johnson AM, Gabow PA. Intracranial aneurysms in patients with autosomal dominant polycystic kidney disease: how to diagnose and who to screen. Am J Kidney Dis. 1993;22:256.
Chapman AB, Rubinstein D, Hughes R, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med. 1992;327:916.
Levey AS, Pauker SG, Kassirer JP. Occult intracranial aneurysms in polycystic kidney disease. N Engl J Med. 1983;308:986.
Torres VE, Wiebers DO, Forbes GS. Cranial computed tomography and magnetic resonance imaging in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1990;1:84.
Blyth H, Ockenden BG. Polycystic disease of kidneys and liver presenting in childhood. J Med Genet. 1971;8:257.
Cole BR, Conley SB, Stapleton FB. Polycystic kidney disease in the first year of life. J Pediatr. 1987;111:693.
Maatoo TK, Griefer I, Geva P, Spitzer A. Acquired renal cystic disease in children and young adults on maintenance dialysis. Pediatr Nephrol. 1997;11:447–50.
Ishikawa I. Acquired cystic disease: mechanisms and manifestations. Semin Nephrol. 1991;11:671.
Gabow PA, Kimberling WJ, Strain JD, et al. Utility of ultrasonography in the diagnosis of autosomal dominant polycystic kidney disease in children. J Am Soc Nephrol. 1997;8:105–10.
Ravine D, Gibson R, Walker R, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease. Lancet. 1994;343:824–7.
Matsubara K, Susuki K, Lin YW, et al. Familial juvenile nephronophthisis in two siblings: histological findings in an early stage. Acta Paediatr Jpn. 1991;33:482.
Sherman FE, Studnicki FM, Fetterman GH. Renal lesions of familial juvenile nephronophthisis examined by microdissection. Am J Clin Pathol. 1971;55:391.
Pascal RR. Medullary cystic disease of the kidney: study of a case with scanning and transmission electron microscopy. Am J Clin Pathol. 1973;59:659.
Zollinger HU, Mihatsch MJ, Edfonti A, et al. Nephronophthisis (medullary cystic disease of the kidney): a study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta. 1980;35:509.
Sarre H, Mertz DP. Gout secondary to renal insufficiency. Klin Wochenschr. 1965;43:1134–40.
Richet G, Mignon F, Ardaillon R. Gout secondary to chronic renal disease. Presse Med. 1965;73:633–8.
Calabrese G, Simmonds HA, Cameron JS, Davies PM. Precocious familial gout with reduced fractional excretion of urate and normal purine enzymes. Q J Med. 1990;75:441–50.
Yokota N, Yamanaka H, Fujimoto S, et al. Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family. Ann Rheum Dis. 1991;50:108–11.
Duncan H, Dixon StJ. Gout, familial hyperuricaemia, and renal disease. Q J Med. 1960;29:127–36.
Rosenbloom FM, Kelley WN, Carr AA, Seegmiller JE. Familial nephropathy and gout in a kindred. Clin Res. 1967;15:270.
Treadwell BLJ. Juvenile gout. Ann Rheum Dis. 1971;30:279–84.
Bennett RM, Chait A, Lewis B. Familial hyperuricaemia and hypertriglyceridaemia. Ann Rheum Dis. 1973;32:497–500.
Fessel WJ. Renal outcomes of gout and hyperuricemia. Am J Med. 1979;67:74–82.
Thompson GR, Weiss JJ, Goldman RT, Rigg GA. Familial occurrence of hyperuricemia, gout and medullary cystic disease. Arch Intern Med. 1978;138:1614–7.
Van Goor W, Kooiker CJ, Dorhout Mees EJ. An unusual form of renal disease associated with gout and hypertension. J Clin Pathol. 1971;24:354–9.
Simmonds HA, Warren DJ, Cameron JS, et al. Familial gout and renal failure in young women. Clin Nephrol. 1980;14:176–82.
Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol. 1993;7:105–18.
Simmonds HA, Cameron JS, Potter CF, et al. Renal failure in young subjects with familial gout. Adv Exp Med Biol. 1980;122A:15–20.
Massari PU, Hsu CH, Barnes RV, et al. Familial hyperuricemia and renal disease. Arch Intern Med. 1980;140:680–4.
Richmond JM, Kincaid-Smith P, Whitworth JA, Becker GJ. Familial urate nephropathy. Clin Nephrol. 1981;16:163–8.
Leumann EP, Wegmann W. Familial nephropathy with hyperuricemia and gout. Nephron. 1983;34:51–7.
Hollingworth P, Scott JT. Familial gout, hyperuricemia and renal impairment. Ann Rheum Dis. 1983;42 Suppl 1:87–8.
Yarom A, Rennebohm RM, Strife F, Levinson JE. Juvenile gouty arthritis. Am J Dis Child. 1984;138:955–7.
Foreman JW, Yudkoff M. Familial hyperuricemia and renal insufficiency. Child Nephrol Urol. 1990;10:115–8.
Puig JG, Miranda ME, Mateos ML, et al. Familial nephropathy and gout: which comes first? Adv Exp Med Biol. 1991;309A:195–8.
Moro F, Ogg CS, Simmonds HA, et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol. 1991;35:263–9.
McBride MB, Raman V, Ogg CS, et al. A new kindred with familial juvenile gouty nephropathy. Adv Exp Med Biol. 1991;309A:191–4.
Saeki A, Hosoya T, Okabe H, et al. Newly discovered familial juvenile gouty nephropathy in a Japanese family. Nephron. 1995;70:359–66.
Cameron JS, Moro F, Simmonds HA. What is the pathogenesis of familial juvenile gouty nephropathy. Adv Exp Med Biol. 1991;309A:185–91.
Puig JG, Miranda ME, Mateos FA, et al. Hereditary nephropathy associated with hyperuricemia and gout. Arch Intern Med. 1993;153:357–65.
Knorr BA, Lipkowitz MS, Potter BJ. Isolation and immunolocalization of a rat renal cortical membrane urate transporter. J Biol Chem. 1994;269:6759.
Leal-Pinto E, London RD, Knorr BA, Abramson RG. Reconstitution of hepatic uricase in planar lipid bilayer reveals a functional organic anion channel. J Membr Biol. 1995;146:123.
Leal-Pinto E, Tao W, Rappaport J, et al. Molecular cloning and functional reconstitution of a urate transporter channel. J Biol Chem. 1997;272:617.
Isomaki H, Kreus KE. Serum and urinary uric acid in respiratory acidosis. Acta Med Scand. 1968;184:293.
Padova J, Bendersky G. Hyperuricemia in diabetic ketoacidosis. N Engl J Med. 1962;267:530.
Manual MA, Steele TH. Changes in renal urate handling after prolonged thiazide treatment. Am J Med. 1974;57:741.
Demartini FE. Hyperuricemia induced by drugs. Arthritis Rheum. 1965;8:823.
Stewart RJ, Chonko AM. Pharmacologic inhibition of urate transport across perfused and non-perfused rabbit proximal straight tubules. Kidney Int. 1981;19:258.
Cutler RE, Kleeman CR, Maxwell MH, et al. Physiologic studies in nephrogenic diabetes insipidus. J Clin Endocrinol Metab. 1962;22:827–38.
Gorden P, Robertson GL, Seegmiller JE. Hyperuricemia, a concomitant of congenital vasopressin-resistant diabetes insipidus in the adult. Studies of uric acid metabolism and plasma vasopressin. N Engl J Med. 1971;284:1057–60.
Mizuno O. Transient nephrogenic diabetes insipidus associated with acute hepatic failure in pregnancy. Endocrinol Jpn. 1987;34:449–55.
Harper M, Hatjis CG, Appel RG, Austin WE. Vasopressin-resistant diabetes insipidus, liver dysfunction, hyperuricemia and decreased renal function. A case report. J Reprod Med. 1987;32:862–5.
Yokoyoshi Y, Saito S. Abnormal serum uric acid level in endocrine disorders. Nippon Rinsho. 1996;54:3360–3.
Decaux G, Prospert F, Namias B, Soupart A. Hyperuricemia as a clue for central diabetes insipidus (lack of V1 effect) in the differential diagnosis of polydipsia. Am J Med. 1997;103:376–82.
Robertson GL. Diabetes insipidus. Endocrinol Metab Clin North Am. 1995;24:549–72.
van Lieburg AF, Knoers NV, Monnens LA. Clinical presentations and follow-up of 30 patients with congenital diabetes insipidus. J Am Soc Nephrol. 1999;10:1958–64.
Uribarri J, Kaskas M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron. 1993;65:346–9.
Carter C, Simpkiss M. The “carrier” state in nephrogenic diabetes insipidus. Lancet. 1956;2:1069–73.
van Lieburg AF, Verrdijk MA, Schoute F, et al. Clinical phenotype of nephrogenic diabetes insipidus in females heterogeneous for a vasopressin type 2 receptor mutation. Hum Genet. 1995;96:70–8.
Nicholas HO. Urinary calculi. III. Further observations on calculi from patients in the southeast Texas area. Clin Chem. 1961;7:175–7.
Leonard RH. Quantitative composition of kidney stones. Clin Chem. 1961;7:546–51.
Hughes J, Coppridge WM, Roberts LC, Mann VI. Oxalate urinary tract stones. JAMA. 1960;172:774–6.
Prien EL. Crystallographic analysis of urinary calculi; a 25 year survey study. J Urol. 1963;89:917–24.
Melick RA, Henneman PH. Clinical and laboratory studies of 207 consecutive patients in a kidney stone clinic. N Engl J Med. 1958;259:307–14.
Herring LC. Observations on the analysis of 10,000 urinary calculi. J Urol. 1962;88:545–62.
Yu TF. Uric acid nephrolithiasis. Handb Exp Pharmacol. 1978;51:397–422.
Halabe A, Sperling O. Uric acid nephrolithiasis. Miner Electrolyte Metab. 1994;20:424–31.
Harrache D, Mesai A, Addou A, et al. Urolithiasis in children in West Algeria. Ann Urol (Paris). 1997;31:84.
Borghi L, Meschi T, Amato F, et al. Hot occupation and nephrolithiasis. J Urol. 1993;150:1757.
Gutman AB, Yu TF. Urinary ammonium excretion in primary gout. J Clin Invest. 1965;44:1474–81.
Henneman PH, Wallach S, Dempsey EF. The metabolic defect responsible for uric acid stone formation. J Clin Invest. 1962;41:537–42.
Woeber KA, Ricca L, Hills AG. Pathogenesis of uric acid urolithiasis. Clin Res. 1962;10:45.
Gutman AB, Yu TF. An abnormality of glutamine metabolism in primary gout. Am J Med. 1963;35:820–31.
Clarke AM, McKenzie RG. Ileostomy and the risk of urinary uric acid stones. Lancet. 1969;2:395–7.
Gigax JH, Leach JR. Uric acid calculi associated with ileostomy for ulcerative colitis. J Urol. 1971;105:797–9.
Yu TF, Gutman AB. Uric acid nephrolithiasis in gout. Predisposing factors. Ann Intern Med. 1967;67:1133–48.
Sperling O, Eilam G, Persky-Brosh S, DeVries A. Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis: a familial abnormality associated with excessive uric acid production and gout. Biochem Med. 1972;6:310.
DeVries A, Sperling O. Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase. Urologie A. 1973;12:153.
Kelley WN, Wyngaarden JB. Clinical syndromes associated with hypoxanthine-guanine phosphoribosyltransferase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited diseases. New York: McGraw-Hill, Inc.; 1983. p. 1115.
Michener WM. Hyperuricemia and mental retardation with athetosis and self-mutilation. Am J Dis Child. 1967;113:155.
Nyhan WL. The Lesch-Nyhan syndrome. Annu Rev Med. 1973;24:41.
Cameron JS, Simmonds HA, Webster DR, et al. Problems of diagnosis in an adolescent with hypoxanthine guanine phosphoribosyltransferase deficiency. Adv Exp Med Biol. 1984;165A:7–13.
Stone TW, Simmonds HA. Purines: basic and clinical aspects. London: Kluwer; 1991.
Brock WA, Golden J, Kaplan GW. Xanthine calculi in the Lesch-Nyhan syndrome. J Urol. 1983;130:157–9.
Kenney IJ. Renal sonography in long standing Lesch-Nyhan syndrome. Clin Radiol. 1991;43:39–41.
Grampsas SA, Chandhoke PS, Fan J, et al. Anatomic and metabolic risk factors for nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000;36:53.
Dimitrakov D, Simeonov S. Studies on nephrolithiasis in patients with autosomal dominant polycystic kidney disease. Folia Med (Plovdiv). 1994;36:27.
Ng CS, Yost A, Streem SB. Nephrolithiasis with autosomal dominant polycystic kidney disease: contemporary urological management. J Urol. 2000;163:726.
Steg A, Aboulker P, Reziciner S, Bernard E. The association of polycystic kidney and uric acid lithiasis. Ann Med Intern (Paris). 1970;121:431.
Chen YT. Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol. 1991;5:71–6.
Chen YT, Van Hove JL. Renal involvement in type I glycogen storage disease. Adv Nephrol Necker Hosp. 1995;24:357–65.
Howell RR. The interrelationship of glycogen storage disease and gout. Arthritis Rheum. 1965;8:780.
Howell RR, Ashton DM, Wyngaarden JB. Glucose-6-phosphatase deficiency glycogen storage disease. Studies on the interrelationship of carbohydrate, lipid and purine abnormalities. Pediatrics. 1982;29:553.
Kelley WM, Rosenbloom FM, Seegmiller JE, Howell RR. Excessive production of uric acid in type I glycogen storage disease. J Pediatr. 1968;72:488.
Evans WP, Resnick MJ, Boyce WH. Homozygous cystinuria – evaluation of 35 patients. J Urol. 1982;127:707.
Resnick MJ, Goodman HO, Boyce WH. Heterozygous cystinuria and calcium oxalate nephrolithiasis. J Urol. 1979;122:52.
King Jr JS, Wainer A. Cystinuria with hyperuricemia and methioninuria. Biochemical study of a case. Am J Med. 1967;43:125–30.
Krizek V. Uricemia in cystinuria. Horm Metab Res. 1972;4:51–8.
Meloni CR, Canary JJ. Cystinuria with hyperuricemia. JAMA. 1967;200:257–9.
Vergis JG, Walker AR. Cystinuria, hyperuricemia and uric acid nephrolithiasis: case report. Nephron. 1970;7:577–9.
Gutman AB, Yu TF. Uric acid nephrolithiasis. Am J Med. 1968;45:756–79.
Wells RG, Hediger MA. Cloning of a rat kidney cDNA that stimulates dibasic acid neutral amino acid transport and has sequence similarity to glucosidases. Proc Natl Acad Sci USA. 1992;89:5596–600.
Lee WS, Wells RG, Subbog RV, et al. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 1993;91:1959–63.
Pras E, Arber N, Aksentijevich I, et al. Localization of a gene causing cystinuria to chromosome 2p. Nat Genet. 1995;56:1297–303.
Wartenfeld R, Golomb E, Katz G, et al. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet. 1997;60:617–24.
Bisceglia L, Calonge MJ, Totaro A, et al. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet. 1997;60:611–6.
Sakhaee K, Poindexter JR, Pak CYC. The spectrum of metabolic abnormalities in patients with cystine nephrolithiasis. J Urol. 1989;141:819–21.
de Vries A, Frank M, Atsmon A. Inherited uric acid lithiasis. Am J Med. 1962;33:880–92.
Greene ML, Marcus R, Aurbach GD, et al. Hypouricemia due to isolated renal tubular defect. Am J Med. 1972;53:361.
Benjamin D, Sperling O, Weinberger A, et al. Familial hypouricemia due to isolated renal tubular defect. Nephron. 1977;18:220.
Tachibana S, Wakatsuki A, Kamei O, et al. A case of idiopathic hypouricemia with recurrent renal stones. Nish J Urol. 1982;44:795.
Hedley JM, Phillips PJ. Familial hypouricemia and uric acid calculi. Case report. J Clin Pathol. 1980;33:971.
Frank M, Many M, Sperling O. Familial renal hypouricemia: two additional cases with uric acid lithiasis. Br J Urol. 1979;51:88.
Gaspar GA, Puig TG, Mateos FA, et al. Hypouricemia due to renal urate wasting: different types of tubular transport defects. Adv Exp Med Biol. 1986;195A:357.
Pak CYC, Kaplan RA, Bone H, et al. A simple test for the diagnosis of absorptive, resorptive and renal hypercalciuria. N Engl J Med. 1975;292:497–500.
Sperling O, Weinberger A, Oliver I, et al. Hypouricemia, hypercalciuria and decreased bone density: a hereditary syndrome. Ann Intern Med. 1974;80:482.
Weitz R, Sperling O. Hereditary renal hypouricemia: Isolated tubular defect of urate reabsorption. J Pediatr. 1980;96:850.
Takeda E, Kuroda T, Ito M, et al. Hereditary renal hypouricemia in children. J Pediatr. 1985;107:71.
Ishikawa I, Sakurai Y, Maasuzaki S, et al. Exercise-induced acute renal failure in 3 patients with renal hypouricemia. Jpn J Nephrol. 1990;32:923.
Erley CMM, Hirschberg RR, Hoefer W, Schaefer K. Acute renal failure due to uric acid nephropathy in a patient with renal hypouricemia. Klin Wochenschr. 1989;67:308.
Dwash IL, Roncari DAK, Marliss E, Fox IH. Hypouricemia in disease: a study of different mechanisms. J Lab Clin Med. 1977;90:153.
Ramsdell C, Kelley WN. The clinical significance of hypouricemia. Ann Intern Med. 1973;78:239–42.
Wyngaarden JB. The use and interpretation of laboratory derived data. In: Beeson PB, McDermott W, editors. Textbook of medicine. Philadelphia: Saunders; 1975. p. 1880.
Mikkelsen WM, Dodge HJ, Valkenburg H. The distribution of serum uric acid values in a population unselected as to gout or hyperuricemia: Tecumseh, Michigan, 1959–1960. Am J Med. 1965;39:242–51.
Tofuku Y, Ito M, Takasaki H, et al. A case of familial renal hypouricemia associated with acute renal failure. Purine Pyrimidine Metab (Jpn). 1990;14:8.
Gafter U, Zuta A, Frydman M, et al. Hypouricemia due to familial isolated renal tubular uricosuria – evaluation with combined pyrazinamide-probenecid test. Miner Electrolyte Metab. 1989;15:309.
Histome I, Ogino K, Saito M, et al. Renal hypouricemia due to an isolated renal defect of urate transport. Nephron. 1988;49:81.
Matsuda O, Shiigai T, Ito Y, et al. A case of familial renal hypouricemia associated with increased secretion of PAH and idiopathic edema. Nephron. 1982;30:178.
Fujiwara J, Takamitsue J, Ueda N, et al. Hypouricemia due to an isolated defect in renal tubular urate reabsorption. Clin Nephrol. 1980;13:44.
Delexelle F, Trombert JC, Bouvier MF, Canarelli G. Idiopathic renal hypouricemia I. Observation. Presse Med. 1980;35:2578.
Akaoka I, Nishizawa T, Yano E, et al. Renal urate excretion in five cases of hypouricemia with an isolated renal defect of urate transport. J Rheumatol. 1977;4:86.
Shichiri M, Iwamoto H, Maeda M, et al. Hypouricemia due to subtotal defect in the urate transport. Clin Nephrol. 1987;28:300.
Nakajima H, Gomi M, Iida S, et al. Familial renal hypouricemia with intact reabsorption of uric acid. Nephron. 1987;45:40.
Gutman AB, Yu TF. A three-component system for regulations of renal excretion of uric acid in man. Trans Assoc Am Physicians. 1961;74:353.
Mudge GH. Uricosuric action of cholecystographic agents. N Engl J Med. 1971;284:929–33.
Postlethwaite AE, Kelley WN. Uricosuric effect of radiocontrast agents. Ann Intern Med. 1971;74:845–52.
Ramsdell CM, Postlethwaite AE, Kelley WN. Uricosuric effect of glyceryl guaiacolate. J Rheum. 1974;1:114–6.
Gross JM. Fanconi syndrome (adult type) developing secondary to the ingestion of outdated tetracycline. Ann Intern Med. 1963;48:523.
Nakashima M, Uematsu T, Kosuge K, Kanamaru M. Pilot study of the uricosuric effect of uP-753, a new angiotensin II receptor antagonist, in healthy subjects. Eur J Clin Pharmacol. 1992;42:333.
Roch-Ramel F, Guisan B. Effect of uricosuric drugs and pyrazinoate on urate uptake by human brush-border membrane vesicles. Eperientia. 1995;51:A93.
Roch-Ramel F, Werner D, Guisan B. Urate transport in brush-border membrane of human kidney. Am J Physiol. 1994;266:F797.
Burnier M, Rutshmann B, Nussberger J, et al. Salt-dependent renal effects of an angiotensin II antagonist in healthy subjects. Hypertension. 1993;22:339.
Sweet CS, Bradstreet DC, Berman RS, et al. Pharmacodynamic activity of intravenous E-3174, an angiotensin II antagonist, in patients with essential hypertension. Am J Hypertens. 1994;7:1035.
Dickinson CJ, Smellie JM. Xanthinuria. Br Med J. 1959;2:1217.
Srivastava RN, Hussainy MAA, Goel RO, Rose GA. Bladder stone disease in children in Afghanistan. Br J Urol. 1986;58:374.
Kenawi MM. Xanthinuria and xanthine calculous pyonephrosis. J R Coll Surg Edinb. 1976;21:95.
De Vries A, Sperling O. Implications of purine metabolism for the kidney and urinary tract. Ciba Found Symp. 1977;48:179.
Carpenter TO, Lebowitz RL, Nelson D, Bauer S. Hereditary xanthinuria presenting in infancy with nephrolithiasis. J Pediatr. 1986;109:307.
Henderson MJ, Bradbury M, Brocklebank JT, Simmonds HA. Xanthinuria: presentation with acute renal failure in a nine month old girl. J Inherit Metab Dis. 1992;15:302.
Maynard J, Benson P. Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with β-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other. J Urol. 1988;139:338.
Fildes RD. Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. J Pediatr. 1989;115:277.
Dent CE, Philpot GR. Xanthinuria, an inborn error (or deviation) of metabolism. Lancet. 1954;1:182.
Salti IS, Mouradian M, Frayha RA. Hereditary xanthinuria. Arab J Med. 1982;1:5.
Simmonds HA, Stutchbury JH, Webster DR, et al. Pregnancy in xanthinuria: demonstration of fetal uric acid production? J Inherit Metab Dis. 1984;7:77.
Dwosh IL, Roncari DAK, Marliss E, Fox IH. Hypouricemia in disease: a study of different mechanisms. J Lab Clin Med. 1977;90:153.
Frezal J, Malassenet R, Cartier P, et al. Sur un cas de xanthinurie. Arch Fr Pediatr. 1967;24:129.
Cifuentes-Delatte L, Castro-Mendoza HJ. Xanthinuria familiar. Rev Clin Esp. 1967;107:244.
Kennedy JH, Semmence AM. Xanthinuria: a new case. Clin Chem. 1980;26:1758.
Rodriguez GF, Servan PR, Rodriguez JP. Un nuevo caso de xanthinuria. Asociacion con SIDA. Ann Intern Med (Madrid). 1989;6:219.
Delbarre F, Weissenbach R, Auscher C, De Gery A. Acess de gout chez xanthinurique. Nouv Presse Med. 1973;2:2465.
Wilson DM, Topia HR. Xanthinuria in a large kindred. Adv Exp Med Biol. 1974;41A:343.
Isaacs H, Heffron JJA, Berman L, et al. Xanthine, hypoxanthine and muscle pain. Histochemical and biochemical observations. S Afr Med J. 1975;49:1035.
De Vooght HJ, Von de Kamp JJP, Van Gerderen HH, et al. Een xanthinsteen by een kind met xanthinuie: Enkele beschonasingen over een Zeldaure “inborn error of metabolism”. Ned Tijdschr Geneeskd. 1973;117:976.
Engleman K, Watts RWE, Klinenberg JR, et al. Clinical, physiological and biochemical studies of a patient with xanthinuria and pheochromocytoma. Am J Med. 1964;37:839–61.
Parker R, Snedden W, Watts RWE. The quantitative determination of hypoxanthine and xanthine (“oxypurines”) in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria). Biochem J. 1970;116:317.
Chalmers RA, Johnson M, Pallis C, Watts RWE. Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease). Q J Med. 1969;38:493.
Simmonds HA, Cameron JS, Barrat TM, et al. Purine enzyme defects as a cause of acute renal failure in childhood. Pediatr Nephrol. 1989;3:433.
Wada Y, Nishimura Y, Tanabu M, et al. Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes. Tohoku J Exp Med. 1974;113:149–57.
Inuma K, Wada Y, Onuma A, Tanabu M. Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency. Tohoku J Exp Med. 1975;116:53–5.
Imaeda H, Wada Y. PRPP synthetase deficiency. Ryoikibetsu Shokogun Shirizu. 1998;18:435–7.
Wilson DB, Goldstein NP. Renal urate excretion in patients with Wilson’s disease. Kidney Int. 1973;4:331.
Leu MI, Strickland GT, Gutman AB. Renal function in Wilson’s disease: response to penicillamine therapy. Am J Med Sci. 1970;250:381.
Morgan HG, Steewart WK, Lowe KG, et al. Wilson’s disease and the Fanconi syndrome. Q J Med. 1962;31:361.
Elsas LJ, Hayslett JP, Spargo BH, et al. Wilson’s disease with reversible renal tubular function. Ann Intern Med. 1971;75:127.
Cusworth DC, Dent CE, Flynn FV. The amino-aciduria in galactosaemia. Arch Dis Child. 1955;30:150.
Lamiere N, Mussche M, Baele G, et al. Hereditary fructose intolerance: a difficult diagnosis in the adult. Am J Med. 1978;65:416.
Schneider JA, Schulman JD, Seegmiller JE. Cystinosis and the Fanconi syndrome. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, editors. The metabolic basis of inherited disease. 4th ed. New York: McGraw-Hill, Inc; 1978. p. 1660.
Levy HL. Hartnup disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc.; 1995. p. 3629.
Bennett JS, Bond J, Singer I, Gottlieb AJ. Hypouricemia in Hodgkin’s disease. Ann Intern Med. 1972;76:751.
Tykarski A. Mechanism of hypouricemia in Hodgkin’s disease. Isolated defect in postsecretory reabsorption of uric acid. Nephron. 1988;50:217.
Weinstein B, Irreverre F, Watkins DM. Lung carcinoma, hypouricemia and aminoaciduria. Am J Med. 1965;39:520.
Gorshein D, Asbell S. Ectopic production of hormones in tumors. JAMA. 1976;235:2716.
Cooper DS. Oat-cell carcinoma and severe hypouricemia. N Engl J Med. 1973;288:321.
Smithline N, Kassirer JP, Cohen JJ. Light-chain nephropathy. N Engl J Med. 1976;294:71.
Beck IH. Hypouricemia in the syndrome of inappropriate secretion of antidiuretic hormone. N Engl J Med. 1979;301:528.
Weinberger A, Santo M, Shalit M, et al. Abnormality in renal urate handling in the syndrome of inappropriate secretion of antidiuretic hormone. Isr J Med Sci. 1982;18:711.
Osterlind K, Hansen M, Dombernowsky P. Hypouricemia and inappropriate secretion of antidiuretic hormone in small cell bronchogenic carcinoma. Acta Med Scand. 1981;209:289.
Kay NE, Gottlieb AJ. Hypouricemia in Hodgkin’s disease. Cancer. 1973;32:1508–11.
Chisholm Jr JJ, Harrison HC, Everlein WR, Harrison HE. Amino-aciduria, hypophosphatemia and rickets in lead poisoning. Am J Dis Child. 1955;89:159.
Clarkson TW, Keneh JE. Urinary excretion of amino acids by men absorbing heavy metals. Biochem J. 1965;62:361.
Michelis MF, Warms PC, Fusco RD, Davis BB. Hypouricemia and hyperuricosuria in Laennec cirrhosis. Arch Intern Med. 1974;134:681.
Schlosstein L, Kippen I, Bluestone R, et al. Association between hypouricemia and jaundice. Ann Rheum Dis. 1974;33:308.
Pui CH, Roy 3rd S, Noe HN. Urolithiasis in childhood acute leukemia and non-Hodgkin’s lymphoma. J Urol. 1986;136:1052.
Pochedly C. Hyperuricemia in leukemia and lymphoma. I. Clinical findings and pathophysiology. N Y State J Med. 1973;73:1085.
Moe PJ. Formation of urinary calculi and uric acid findings in children with leukemia. Tidsskr Nor Laegeforen. 1970;90:1201.
Teluk J, Reiszkowski J. Case of chronic myeloid leukemia complicated by nephrolithiasis. Wiad Lek. 1976;29:1577.
Hsu AC, Kooh SW, Izukawa T, Fox IH. Uric acid lithiasis in an infant with cyanotic congenital heart disease. J Pediatr. 1977;91:1021.
Yu TF. Review article. Urolithiasis in hyperuricemia and gout. J Urol. 1981;126:424.
Lynch EC. Uric acid metabolism in proliferative diseases of the marrow. Arch Intern Med. 1962;109:639.
Lancina Martin JA, Garcia Buitron JM, Diaz Bermudez J, et al. Urinary lithiasis in transplanted kidney. Arch Esp Urol. 1997;50:141.
Norlen BJ, Hellstrom M, Nisa M, Robertson WG. Uric acid stone formation in a patient after kidney transplantation – metabolic and therapeutic considerations. Scand J Urol Nephrol. 1995;29:335.
Cantarell MC, Capdevila L, Morlens M, Piera L. Uric acid calculus in renal transplant patients treated with cyclosporine. Clin Nephrol. 1991;35:288.
Harper JM, Samuell CT, Hallson PC, et al. Risk factors for calculus formation in patients with renal transplants. Br J Urol. 1994;74:147.
Glicklich D, Gruber HE, Matas AJ, et al. 2,8-Dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant. Q J Med. 1988;68:785.
Adam O, Goebel FD. Secondary gout and pseudo-Bartter syndrome in females with laxative abuse. Klin Wochenschr. 1987;65:833.
Dick WH, Lingeman JE, Preminger JE, et al. Laxative abuse as a cause for ammonium urate calculi. J Urol. 1990;143:244.
Asanuma H, Nagatsuma K, Baba S, Murai M. A case of Prader-Willi syndrome accompanied with a renal stone. Hinyokika Kiyo. 1998;44:37.
Cassidy SB. Prader-Willi syndrome. Curr Probl Pediatr. 1984;14:1.
Holm VJ, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993;912:398.
Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990;35:319.
Leistenschneider W, Nagel R. Experiences with lavage cytology from renal pelvis and ureter. Urologe A. 1977;16:230.
Dean TE, Harrison NW, Bishop NL. CT scanning in the diagnosis and management of radiolucent urinary calculi. Br J Urol. 1988;62:405.
Nakada SY, Hoff DG, Attai S, et al. Determination of stone composition by noncontrast spiral computed tomography in the clinical setting. Urology. 2000;55:816.
Band PR, Silverberg DS, Henderson JF. Xanthine nephropathy in a patient with lymphosarcoma treated with allopurinol. N Engl J Med. 1970;283:354–7.
Ogawa A, Watanabe K, Minejima N. Renal xanthine stones in Lesch-Nyhan syndrome treated with allopurinol. Urology. 1985;26:56.
Stevens SK, Parker BR. Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation. Pediatr Radiol. 1989;19:479.
Ablin A, Stephens BG, Hirata T, et al. Nephropathy, xanthinuria, and orotic aciduria complicating Burkitt’s lymphoma treated with chemotherapy and allopurinol. Metabolism. 1972;21:771–8.
Klinenberg JR, Goldfinger S, Miller J, et al. The effectiveness of a xanthine oxidase inhibitor in the treatment of gout. Arthritis Rheum. 1963;6:779–80.
Klinenberg JR, Goldfinger SF, Seegmiller JE. The effectiveness of xanthine oxidase inhibitor allopurinol in the treatment of gout. Ann Intern Med. 1965;62:639–47.
Sorensen LB. Seminars on the Lesch-Nyhan syndrome: management and treatment. Discussion. Fed Proc. 1968;27:1097.
Greene ML, Fujimoto WY, Seegmiller JE. Urinary xanthine stones – a rare complication of allopurinol therapy. N Engl J Med. 1969;280:426.
Mizuno T, Segawa M, Kurumada T. Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children. Neuropaediatrie. 1970;2:38.
Manzke H. Xanthine stone formation subsequent to allopurinol therapy. Dtsch Med Wochenschr. 1974;99:918.
Wyngaarden JB. Allopurinol and xanthine nephropathy. N Engl J Med. 1970;283:371–2.
Sperling O, Brosh S, Boer P, et al. Urinary xanthine stones in an allopurinol treated gouty patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Israel J Med Sci. 1978;14:288.
Rundles RW, Wyngaarden JB, Hitchings G, et al. Effects of xanthine oxidase inhibitor on thiopurine metabolism, hyperuricemia and gout. Trans Assoc Am Physicians. 1963;76:126–40.
Yu TF, Gutman AB. Effect of allopurinol (4-hydroxypyrazolo (3,4-d)-pyrimidine) on serum and urinary uric acid in primary and secondary gout. Am J Med. 1964;37:885–98.
Segal S, Wyngaarden JB. Plasma glutamine and oxypurine content in patients with gout. Proc Soc Exp Biol Med. 1955;88:342–5.
Jorgensen S. Hypoxanthine and xanthine accumulated in stored human blood: determination of relative amounts by spectrophotometry. Acta Pharmacol Toxicol. 1955;11:265–76.
Elion GB. Allopurinol and other inhibitors of urate synthesis. Handb Exp Pharmacol. 1978;51:485–514.
Farebrother DA, Hatfield P, Simmonds HA, et al. Experimental crystal nephropathy (one year study in the pig). Clin Nephrol. 1975;4:243–50.
Reiter S, Simmonds HA, Zollner N, et al. Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. Clin Chim Acta. 1990;187:221.
Van Gennip AH, van Noordenburg Huistra D, de Bree PK, Wadman SK. Two-dimensional thin layer chromatography for the screening of disorders of purine and pyrimidine metabolism. Clin Chim Acta. 1978;96:7.
Simmonds HA, Duley JA, Davies PM. Analyses of purines and pyrimidines in blood, urine, and other physiological fluids. In: Hommes F, editor. Techniques in diagnostic human biochemical genetics. A Laboratory Manual. New York: Wiley-Liss; 1991. p. 397.
Bennett MJ, Carpenter KH, Hill PG. Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate. Clin Chem. 1985;31:492.
Boulieu R, Bory C, Baltassat P, Divry P. Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria. Clin Chim Acta. 1984;142:83.
Harkness RA, Coade SB, Walton KR, Wright D. Xanthine oxidase deficiency and “Dalmation” hypouricemia: Incidence and effect of exercise. J Inherit Metab Dis. 1983;6:114.
Costello J, Al-Dabagh E. A new rapid spectrophotometric method for the detection of xanthinuria. In: Schwille PO, Smith LH, Robertson WG, Vahlensieck W, editors. Urolithiasis and related clinical research. New York: Plenum; 1985. p. 681.
Holmes EW, Wyngaarden JB. Hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill, Inc; 1989. p. 1090.
Simmonds HA, Levin B, Cameron JS. Variations in allopurinol metabolism by xanthinuric subjects. Clin Sci Mol Med. 1974;47:173.
Yamamoto T, Higashino K, Kono N, et al. Metabolism of pyrazinamide and allopurinol in hereditary xanthine oxidase deficiency. Clin Chim Acta. 1989;180:169.
Auscher C, Pasquier C, Pehuet P, Delbarre F. Study of urinary pyrazinamide metabolites and their action on renal excretion of xanthine and hypoxanthine in a xanthinuric patient. Biomedicine. 1978;28:129.
Holmes EW, Mason DH, Goldstein LI, et al. Xanthine oxidase deficiency: studies of a previously unreported case. Clin Chem. 1974;20:1076.
Auscher C, Pasquier C, Amory N, et al. The effect of weight reduction on plasma and urinary levels of oxypurines in an obese xanthinuric patient. Adv Exp Med Biol. 1980;122A:241.
Kojima T, Nishina T, Kitamura M, et al. Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria. Clin Chim Acta. 1984;137:189.
Hillebrand G, Reiter S. Hypourikamie – ein differentialdiagnostisches problem. Internist. 1991;32:226.
Reiter S, Simmonds HA, Zollner N, et al. Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase forming oxipurinol. Clin Chim Acta. 1990;187:221.
Laudaas S, Borch K, Aagaard E. A new case with hereditary xanthinuria: response to exercise. Clin Chim Acta. 1989;181:119.
Engelman K, Watts RWE, Klinenberg JR, et al. Clinical, physiological and biochemical studies of a patient with xanthinuria and pheochromocytoma. Am J Med. 1964;37:839.
Chalmers RA, Watts RWE, Pallis C, et al. Crystalline deposits in striped muscle in xanthinuria. Nature. 1969;221:170–1.
Parker R, Snedden W, Watts RWE. The mass spectrophotometric identification of hypoxanthine and xanthine (“oxypurines”) in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria). Biochem J. 1969;115:103–8.
Crawhall JC, Itiaba K, Katz S. Separation and quantitation of oxypurines by isocratic high pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. Biochem Med. 1983;30:261.
Kawachi M, Kono N, Mineo I, et al. Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. Clin Chim Acta. 1990;88:137.
Castro-Liendoza HJ, Cifuentes-Delatte LC, Rapudo A. Una nueva observacion de xanthinuria familiar. Rev Clin Esp. 1972;124:341.
Kutter D, Humbel R, Bisdorff J. Biochemische untersuchungen bei einem typischen Fall von xanthinurie. Dtsch Med Wochenschr. 1970;95:1269.
Simmonds HA, Reiter S, Nishino T. Hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc.; 1995. p. 1789.
Ullmann H. Zur frage der harnsaureausscheidung in urin bei ikteruskranken. Klin Wochenschr. 1923;2:2174–5.
Matz R, Christodoulou J, Vianna N, et al. Renal tubular dysfunction associated with alcoholism and liver disease. N Y State J Med. 1969;69:1312–4.
Passero G, Masini G. L’ipouricemia negli itteri colurici. Minerva Med. 1958;49:3155–8.
Van Peenen HJ. Causes of hyperuricemia. Ann Intern Med. 1973;78:977–8.
Casas E, Serrano C, Daimiel E, et al. Prevalence, physiopathology and processes associated with hypouricemia in a hospitalized population: analysis of 27,987 analytic determinations. Rev Clin Esp. 1990;186:211–5.
Diaz Curiel M, Zea Mendoza A, Rapado A, Gonzalez Villasante J. Significacion clinica de la hipouicemia en 14,685 determinaciones del autoanalizador. Rev Clin Esp. 1975;139:365.
Sperling O, Weinberger A, Pinkhas J, de Vries A. Frequency and causes of hypouricemia in hospital patients. Isr J Med Sci. 1977;13:529.
Hisatome I, Ogino K, Kotake H, et al. Cause of persistent hypouricemia in outpatients. Nephron. 1989;51:13.
Yanasze M, Nakahama H, Mikami H, et al. Prevalence of hypouricemia in apparently normal population. Nephron. 1988;48:80.
Simmonds HA, Van Acker KJ. Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine lithiasis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, Inc; 1983. p. 1144–56.
Coupris L, Champion G, Duverne C, et al. 2,8-dihydroxyadenine lithiasis. Two new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy. Chir Pediatr. 1989;30:253.
Yagisawa T, Yamazaki Y, Toma H, Kamatani N. Radiopaque 2,8-dihydroxyadenine lithiasis. Int Urol Nephrol. 1999;31:141.
Simmonds HA, Sahota AS, Van Acker KJ. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc; 1995. p. 1704.
Ceballos-Picot I, Perignon JL, Hamet M, et al. 2,8-dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet. 1992;339:1050.
Takemoto M, Nagano S. Urolithiasis containing 2,8-dihydroxyadenine: report of a case. Acta Urol (Jpn). 1979;25:265.
Gliklich D, Gruber HE, Matas AJ, et al. 2,8-dihydroxyadenine lithiasis. Report of a case first diagnosed after renal transplant. Q J Med. 1988;69:785.
Greenwood MC, Dillon MJ, Simmonds HA, et al. Renal failure due to 2,8-dihydroxyadenine urolithiasis. Eur J Pediatr. 1982;138:346.
Schabel F, Doppler W, Hirsch-Kauffmann M, et al. Hereditary deficiency of adenine phosphoribosyltransferase. Paediatr Paedol. 1980;15:233.
Joost J, Doppler W. The 2,8-dihydroxyadenine stone in childhood. Urology. 1982;20:67.
Laxdal T, Jonasson TA. Adenine phosphoribosyltransferase deficiency in Iceland. Acta Med Scand. 1988;224:621.
Gleeson MJ, Griffith DP. Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. J Urol. 1989;142:834.
Cartier P, Hamet M. Une nouvelle maladie metabolique: le deficit complet en adenine-phosphoribosyltransferase avec lithiasise de 2,8-dihydroxyadenine. C R Acad Sci (Paris). 1974;279:883.
Simmonds HA, Van Acker KJ, Cameron JS, Snedden W. The identification of 2,8-dihydroxyadenine, a new component of urinary stones. Biochem J. 1986;157:485.
Simmonds HA, Potter CF, Sahota A, et al. Adenine phosphoribosyltransferase deficiency presenting with supposed uric acid stones; pitfalls of diagnosis. J R Soc Med. 1978;71:791.
Simmonds HA. 2,8-dihydroxyadeninuria, or when is a uric acid stone not a uric acid stone? Clin Nephrol. 1979;12:195.
Reveillaud RJ, Daudon M, Protat MF, et al. Lithiase 2,8-dihydroxyadenique: un nouveau cas depiste par analyse infra-rouge. Nouv Presse Med. 1979;8:2965.
Johnson LA, Gordon RB, Emmerson BT. Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet. 1977;15:256.
Fox IH, LaCroix S, Planet G, Moore M. Partial deficiency of adenine phosphoribosyltransferase in man. Medicine. 1977;56:515.
Emmerson BT, Gordon RB, Thompson L. Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. Aust N Z J Med. 1975;5:440.
Kelley WN, Levy RI, Rosenbloom FM, et al. Adenine phosphoribosyltransferase deficiency – a previously undescribed genetic defect in man. J Clin Invest. 1968;47:2281.
Fox IH, Meade JC, Kelley WN. Adenine phosphoribosyltransferase deficiency in man. Am J Med. 1973;55:614.
Delbarre F, Auscher C, Amor B, et al. Gout with adenine phosphoribosyltransferase deficiency. Biomedicine. 1974;21:82.
Kojima T, Nishina T, Kamatani N, Nishioka K. Reversed-phase high-performance liquid chromatography of 2,8-dihydroxyadenine in serum and urine with electrochemical detection. Clin Chim Acta. 1989;181:109.
Doppler W, Hirsch-Kauffmann M, Schabel F, Schweiger M. Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyltransferase (APRT). Hum Genet. 1984;57:404.
Feigleson P, Davidson JD, Robins RK. Pyrazolopyrimidines as inhibitors and substrates of xanthine oxidase. J Biol Chem. 1957;226:993–1000.
Krenitsky TA, Elion GB, Strelitz RA, Hitchings GH. Ribonucleosides of allopurinol and oxoallopurinol. J Biol Chem. 1967;242:2675–82.
Langrebe AR, Nyhan WL, Coleman M. Urinary tract stones resulting from the excretion of oxipurinol. N Engl J Med. 1975;292:626–7.
Stote RM, Smith LH, Dubb JW, et al. Oxipurinol nephrolithiasis in regional enteritis secondary to allopurinol therapy. Ann Intern Med. 1980;92:384–5.
Prien EL, Prien Jr EL. Composition and structure of urinary stone. Am J Med. 1968;45:654–72.
Talbott JH. Gout. New York: Grune & Stratton; 1957. p. 205.
Coe FL. Treated and untreated recurrent calcium nephrolithiasis in patients with idiopathic hypercalciuria, hyperuricosuria, or no metabolic disorder. Ann Intern Med. 1977;87:404–10.
Coe FL, Moran E, Kavalach AG. The contribution of dietary protein over-consumption to hyperuricosuria in calcium oxalate stone formers. J Chronic Dis. 1976;29:793–800.
Coe FL. Association of calcium nephrolithiasis with disorders of uric acid metabolism. Handb Exp Pathol. 1978;51:423.
Coe FL, Raisen L. Allopurinol treatment of uric-acid disorders in calcium-stone formers. Lancet. 1973;1:129–31.
Coe FL, Kavalach AG. Hypercalciuria and hyperuricosuria in patients with calcium nephrolithiasis. N Engl J Med. 1974;291:1344–50.
Smith MJV. Placebo versus allopurinol for renal calculi. J Urol. 1977;117:690–2.
Ettinger B, Tang A, Citron JT, et al. Randomized trial of allopurinol in the prevention of calcium oxalate calculi. N Engl J Med. 1986;315:1386–9.
Pak CYC, Peterson R. Successful treatment of hyperuricosuric calcium oxalate nephrolithiasis with potassium citrate. Arch Intern Med. 1986;146:863–7.
Pak CYC, Sakhaee K, Fuller C. Successful management of uric acid nephrolithiasis with potassium citrate. Kidney Int. 1986;30:422–8.
Noda S, Hayashi K, Eto K. Oxalate crystallization in the kidney in the presence of hyperuricemia. Scanning Microsc. 1989;3:829.
Gover PK, Ryall RL, Marshall VR. Dissolved urate promotes calcium oxalate crystallization: epitaxy is not the cause. Clin Sci (Colch). 1993;85:303.
Suki WN, Hull AR, Rector Jr FC, et al. Mechanism of the effect of thiazide diuretics on calcium and uric acid. J Clin Invest. 1967;46:1121.
Wyngaarden JB. Diuretics and hyperuricemia. N Engl J Med. 1970;283:1170.
Cannon PJ, Heinemann H, Stason WB, et al. Ethacrynic acid. Effectiveness and mode of diuretic action in man. Circulation. 1965;31:5.
Steele TH. Evidence for altered renal urate reabsorption during changes in volume of the extracellular fluid. J Lab Clin Med. 1969;74:288.
Schirmeister J, Man NK, Hallauer W. Lactate and uric acid following oral diuretic drug administration in man. Klin Wochenschr. 1967;45:1219.
Schirmeister J, Man NK, Warning D, Hallauer W. On the question of an extrarenal cause for uric acid retention after furosemide. Verh Dtsch Ges Inn Med. 1967;73:1025.
Park YB, Park YS, Song J, et al. Clinical manifestations of Korean female gouty patients. Clin Rheumatol. 2000;19:142.
Hayem G, Delahousse M, Meyer O, et al. Female premenopausal tophaceous gout induced by long-term diuretic abuse. J Rheumatol. 1996;23:2166.
Puig JG, Mechan AD, Jiminez ML, et al. Female gout. Clinical spectrum and uric acid metabolism. Arch Intern Med. 1991;151:726.
Meyers OL, Monteagudo FS. A comparison of gout in men and women. A 10-year experience. S Afr Med J. 1986;70:721.
Lally EV, Ho Jr G, Kaplan SR. The clinical spectrum of gouty arthritis in women. Arch Intern Med. 1986;146:2221.
Meyers OL, Monteagudo FS. Gout in females: an analysis of 92 patients. Clin Exp Rheumatol. 1985;3:105.
Scott JT, Higgins CS. Diuretic induced gout: a multifactorial condition. Ann Rheum Dis. 1992;51:259.
Lin KC, Lin HY, Chou P. The interaction between uric acid level and other risk factors on the development of gout among asymptomatic hyperuricemic men in a prospective study. J Rheumatol. 2000;27:1501.
Lin KC, Lin HY, Chou P. Community based epidemiological study on hyperuricemia and gout in Kin-Hu, Kinmen. J Rheumatol. 2000;27:1045.
Nicotero JA, Scheib ET, Martinez R, et al. Prevention of hyperuricemia by allopurinol in hypertensive patients treated with chlorothiazide. N Engl J Med. 1970;282:133.
Brest AN, Heider C, Mehbod H, et al. Drug control of diuretic-induced hyperuricemia. JAMA. 1966;195:132.
Emmerson BT. A comparison of uricosuric agents in gout with special reference to sulfinpyrazone. Med J Aust. 1963;1:839.
Yu TF, Gutman AB. Paradoxical retention of uric acid by uricosuric drugs in low dosage. Proc Soc Exp Biol Med. 1955;90:542.
Gutman AB, Yu TF. Effect of salicylate in varying dosage on urinary urate excretion in gouty subjects. Ann Rheum Dis. 1955;14:444.
Grayzel AI, Liddle L, Seegmiller JE. Diagnostic significance of hyperuricemia in arthritis. N Engl J Med. 1961;265:763.
See G. Etudes sur l’acid salicylique et lest salicylates: traitment du rheumatisme aigu et chronique, de la goutte, et de diverses affections du systeme nerveux sensitif par les salicylates. Bull Acad Med Paris. 1877;6:689, 717, 926, 937, 1024.
Yu TF, Dayton PG, Gutman AB. Mutual suppression of the uricosuric effects of sulfinpyrazone and salicylate: a study in interactions between drugs. J Clin Invest. 1963;42:1330.
Lieber CS, Davidson CS. Some metabolic effects of ethyl alcohol. Am J Med. 1962;33:319.
Lieber CS, Jones DP, Losowsky MS, et al. Interrelation of uric acid and ethanol metabolism in man. J Clin Invest. 1962;41:1863.
MacLachlan MJ, Rodnan JP. Effects of food, fast and alcohol on serum uric acid and acute attacks of gout. Am J Med. 1967;42:38.
Newcombe DS. Ethanol metabolism and uric acid. Metabolism. 1972;21:1193.
Olin JA, Devenyi P, Weldon KL. Uric acid in alcoholics. Q J Stud Alcohol. 1973;34:1202.
Cullen JH, Early LJA, Fiore JM. The occurrence of hyperuricemia during pyrazinamide-isoniazide therapy. Am Rev Tuberc. 1956;74:289.
Inoue T, Iheda N, Kurasawa T, et al. Hyperuricemia and arthralgias during pyrazinamide treatment. Nihon Kokyuki Gakkai Zasshi. 1999;37:115.
Koumbaniou C, Nicopoulaaaos G, Vassilion M, et al. Is pyrazinamide really the third drug of choice in the treatment of tuberculosis. Int J Tuberc Lung Dis. 1998;2:675.
Steele TH, Rieselbach RE. The renal mechanism for urate homeostasis in normal man. Am J Med. 1967;43:868.
Gutman AB, Yu TF, Berger L. Renal function in gout. III. Estimation of tubular secretion and reabsorption of uric acid by use of pyrazinamide (pyrazinoic acid). Am J Med. 1969;47:575.
Weiner IM, Tinker JP. Pharmacology of pyrazinamide: metabolic and renal function studies related to the mechanism of drug-induced urate retention. J Pharmacol Exp Ther. 1972;180:411.
Shapiro M, Hyde L. Hyperuricemia due to pyrazinamide. Am J Med. 1957;23:596.
Kanner O, Jacobs P. Elevation of blood serum uric acid levels with chemotherapy. Transactions. 1957;16:244.
Wood RHN. Salicylates. Bull Rheum Dis. 1963;13:297.
Petty TL, Dalrymple GV. Inhibition of pyrazinamide hyperuricemia by small doses of acetylsalicylic acid. Ann Intern Med. 1964;60:898.
Postlethwaite AE, Bartel AG, Kelley WN. Hyperuricemia due to ethambutol. N Engl J Med. 1972;286:761.
Postlethwaite AE, Bartel AG, Kelley WN. Hyperuricemia induced by ethambutol. Adv Exp Med Biol. 1974;41B:763.
Palestine AG, Nussenblat RB, Chan CC. Side effects of systemic cyclosporine in patients not undergoing tranplantation. Am J Med. 1984;77:652.
Tiller DJ, Hall BM, Hovrath JS, et al. Gout and hyperuricemia in patients on cyclosporine and diuretics. Lancet. 1985;1:453.
Chapman JR, Griffiths D, Harding NG, Morris PJ. Reversibility of cyclosporine nephrotoxicity after three month’s treatment. Lancet. 1985;1:128.
VanHooff JP, Leunissen KML, vande Staak W. Cyclosporin, uric acid, and the kidney. Lancet. 1985;1:201.
Najarian JS, Fryd DS, Strand M, et al. A single institution randomized prospective trial of cyclosporine versus azathioprine-antilymphocyte globulin for immunosuppression in renal allografts recipients. Ann Surg. 1985;201:142.
Burack DA, Griffith BP, Thompson ME, Kohl LE. Hyperuricemia and gout among heart transplant recipients receiving cyclosporine. Am J Med. 1992;92:141.
Clive DM. Renal transplant-associated hyperuricemia and gout. J Am Soc Nephrol. 2000;11:974.
Pela I, Seracini D, Lavoratti G, Materassi M. Acute gouty arthritis in adolescents with renal transplants. Pediatr Med Chir. 1999;21:135.
Johnson DW, Saunders HJ, Johnson FJ, et al. Fibrogenic effects of cyclosporin A on the tubulointerstitium: role of cytokines and growth factors. Exp Nephrol. 1999;7:470.
Hansen JM, Fogh-Andersen N, Leyssac PP, Strandgaard S. Glomerular and tubular function in renal transplant patients treated with and without cyclosporin A. Nephron. 1998;80:450.
Edvardsson VO, Kaiser BA, Polinsky MS, et al. Natural history and etiology of hyperuricemia following pediatric renal transplantation. Pediatr Nephrol. 1995;9:57.
Laine J, Holmberg C. Mechanisms of hyperuricemia in cyclosporine-treated renal transplanted children. Nephron. 1996;74:318.
Zurcher RM, Bock HA, Thiel G. Hyperuricaemia in cyclosporine-treated patients: GFR-related effect. Nephrol Dial Transplant. 1996;11:153.
Peeters P, Sennesael J. Low back pain caused by spinal tophus: a complication of gout in a kidney transplant recipient. Nephrol Dial Transplant. 1998;13:3245.
Hausch R, Wilkerson M, Singh E, et al. Tophaceous gout of the thoracic spine presenting as back pain and fever. J Clin Rheumatol. 1999;6:335.
Chan GLC, Canafax DM, Johnson CA. The therapeutic use of azathioprine in renal transplantation. Pharmacotherapy. 1987;7:165.
Cummins D, Sekar M, Halil M, Banner N. Myelosuppression associated with azathioprine-allopurinol interaction after heart and lung transplantation. Transplantation. 1996;61:1661.
Byrne PAC, Fraser AG, Pritchard MH. Treatment of gout following cardiac transplantation. Br J Rheumatol. 1996;35:1329.
Jacobs F, Mamzer-Bruneel MF, Skhiri H, et al. Safety of the mycophenolate mofetil-allopurinol combination in kidney transplant recipients with gout. Transplantation. 1997;64:2087.
Perez Ruiz F, Calaboro M, Ferenendez Lopez J, et al. Treatment of chronic gout in patients with renal function impairment. J Clin Rheumatol. 1999;5:49.
Flury W, Ruch HR, Montandon A. The treatment of hyperuricemia after kidney transplantation. Schweiz Med Wochenschr. 1977;107:1339.
Imanishi M, Ikegami M, Ishii T, et al. Clinical studies on hyperuricemia and gout after transplantation. Hinyokika Kiyo. 1990;36:893.
Matzkies F. Effects and side effects of Benzbromarone in the initial treatment of hyperuricemia and gout. Results of a field study of 3899 patients. Fortschr Med. 1978;96:1619.
Gehenot M, Horsmans V, Rahier J, Geubel AP. Subfulminant hepatitis requiring liver transplantation after benzarone administration. J Hepatol. 1994;20:842.
Diamond HS. Uricosuric drugs. Handb Exp Pharmacol. 1977;51:459.
Sinclair DS, Fox IH. The pharmacology of the hypouricemic effect of Benzbromarone. J Rheumatol. 1975;2:437.
Camus JP, Prier A, Kartun P, et al. Thyreotoxicose et benziodarone. Rev Rhum. 1973;40:2, 148.
Davis S, Park YK, Abuchowski A, Davis FF. Hypouricemic effect of polyethylene glycol modified urate oxidase. Lancet. 1987;2:281.
Chua CC, Greenberg LL, Viau AT, et al. Use of polyethylene glycol-modified uricase (PEG-uricase) to treat hyperuricemia in a patient with non-Hodgkin lymphoma. Ann Intern Med. 1988;109:114.
Ippoliti G, Negri M, Campana C, Vigano M. Urate oxidase in hyperuricemic heart transplant recipients treated with azathioprine. Transplantation. 1997;63:1370.
Rozenberg S, Koeger AC, Bourgeois P. Urate-oxidase for gouty arthritis in cardiac transplant recipients. J Rheumatol. 1973;20:2171.
Rozenberg S, Roche B, Dorent R, et al. Urate-oxidase for the treatment of tophaceous gout in heart transplant recipients. Rev Rhum Engl Ed. 1995;65:392.
Royer R, Lamarche M, Kissel P. Etude de l’action d’une urate-oxydase fongique sur l’uricemie et l’excretion de l’azote urique chez l’homme. Therapie. 1967;22:1113.
Brogard JM, Coumaros D, Frankhauser J, et al. Enzymatic uricolysis: a study of the effect of a fungal urate-oxydase. Eur J Clin Biol Res. 1972;17:890.
Mourad G, Cristol JP, Chong G, et al. Role of precipitating anti-urate oxidase antibodies in urate oxidase-resistant hyperuricemia. Presse Med. 1984;13:2585.
Wolf G, Hegewisch-Becher S, Hossfeld DK, Stahl RA. Hyperuricemia and renal insufficiency associated with malignant disease: urate oxidase as an efficient therapy? Am J Kidney Dis. 1999;34:E20.
Pui CH, Relling MV, Lascombe F, et al. Urate oxidase in prevention and treatment of hyperuricemia associated with lymphoid malignancies. Leukemia. 1997;11:1813.
Seidemann K, Meyer U, Jansen P, et al. Impaired renal function and tumor lysis syndrome in pediatric patients with non-Hodgkin’s lymphoma and B-ALL. Observations from the BFM trials. Klin Padiatr. 1998;210:279.
Rana SS, Guiliani MJ, Oddis ChV, Lacomis D. Acute onset of colchicine myoneuropathy in cardiac transplant recipients: case studies of three patients. Clin Neurol Neurosurg. 1997;99:266.
Wallace SL, Singer JZ, Duncan GJ, et al. Renal function predicts colchicine toxicity: guidelines for the prophylactic use of colchicine in gout. J Rheumatol. 1991;18:264.
Garg G, Grundy SM. Nicotinic acid as therapy for dyslipidemia in non-insulin-dependent diabetes mellitus. JAMA. 1990;264:723.
Kreisberg RA. Diabetic dyslipidemia. Am J Cardiol. 1998;82:67u, 85u.
Gershon SL, Fox IH. Pharmacologic effects of nicotinic acid on human purine metabolism. J Lab Clin Med. 1974;84:179.
Schwartz ML. Severe reversible hyperglycemia as a consequence of niacin therapy. Arch Intern Med. 1993;153:2050.
Christensen A, Achor WP, Berge KG, et al. Nicotinic acid treatment of hypercholesterolemia. JAMA. 1961;177:546.
Parsons WB. Studies of nicotinic acid use in hypercholesterolemia. Arch Intern Med. 1961;107:653.
Berge KG, Achor WP, Christensen NA, et al. Hypercholesterolemia and nicotinic acid: a long term study. Am J Med. 1961;31:25.
Gant ZN, Pocelinko R, Solomon AM, et al. Oral glucose tolerance, plasma insulin, and uric acid excretion in man during chronic administration of nicotinic acid. Metabolism. 1971;20:1031.
Becker MA, Raivio KO, Meyer LJ, et al. Effects of nicotinic acid on human purine metabolism. Clin Res. 1973;21:616.
Shuster L, Abraham G. The effect of nicotinamide on incorporation in vivo of formate-C14. J Biol Chem. 1959;234:129.
Shuster L, Goldin A. The incorporation of C14 glucose and C14 ribose into mouse diphosphopyridine nucleotide. J Biol Chem. 1958;230:873.
Boyle JA, Raivio KO, Becker MA, et al. Effects of nicotinic acid on human fibroblast purine biosynthesis. Biochim Biophys Acta. 1972;269:179.
Oberhaemsli RD, Rajagopalan B, Taylor DJ. Study of hereditary fructose intolerance by use of 31-P magnetic resonance spectroscopy. Lancet. 1987;2:931.
Seegmiller JE, Dixon RM, Kemp GJ, et al. Fructose-induced aberration of metabolism in familial gout identified by 31-P magnetic resonance spectroscopy. Proc Natl Acad Sci USA. 1990;87:8326.
Steinmann B, Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981;36:297.
Perheentupa J, Raivio K. Fructose-induced hyperuricemia. Lancet. 1967;2:528.
Fox IH, Kelley WN. Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism. 1972;21:713.
Narins RG, Weisberg JS, Myers AR. Effects of carbohydrates on uric acid metabolism. Metabolism. 1974;23:455.
Peaston MJT. Dangers of intravenous fructose. Lancet. 1973;1:266.
Kogut MD, Roe TF, Ng W, Nonnel GN. Fructose-induced hyperuricemia: observations in normal children and in patients with hereditary fructose intolerance and galactosemia. Pediatr Res. 1975;9:774.
Sahebjami DH, Scalettar R. Effect of fructose infusion on lactate and uric acid metabolism. Lancet. 1971;1:366.
Edwards NL, Gelfand EW, Biggar D, Fox IH. Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism. J Lab Clin Med. 1978;91:736.
Kurtz TW, Kabra PM, Booth BE, et al. Liquid chromatographic measurements of inosine, hypoxanthine and xanthine in studies of fructose-induced degradation of adenine nucleotides in humans and rats. Clin Chem. 1986;32:782.
Bode JC, Zelder O, Rumpelt HJ, Wittkamp U. Depletion of liver adenosine phosphates and metabolic effects of intravenous infusion of fructose and sorbitol in man and in the rat. Eur J Clin Invest. 1973;3:436.
Hultman E, Nilsson LH, Sahlin K. Adenine nucleotide content of human liver. Normal values and fructose-induced depletion. Scand J Clin Lab Invest. 1975;35:245.
Buchli R, Meier D, Martin E, Boesiger P. Assessment of absolute metabolite concentrations in human tissue by 31P MRS in vivo. Part II. Muscle, liver, kidney. Magn Reson Med. 1994;32:453.
Boesiger P, Buchli R, Meier D, et al. Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. Pediatr Res. 1994;36:436.
Oberhaensli RD, Galloway GJ, Taylor DJ, et al. Assessment of human liver metabolism by phosphorus-31 magnetic resonance spectroscopy. Br J Radiol. 1986;59:695.
Dufour JF, Stoupis C, Lazeyras F, et al. Alterations in hepatic fructose metabolism in cirrhotic patients demonstrated by dynamic 31phosphorus spectroscopy. Hepatology. 1992;15:835.
Sukuma H, Itabashi K, Takeda K, et al. Serial P-31 MR spectroscopy after fructose infusion in patients with chronic hepatitis. J Magn Reson Imaging. 1991;1:701.
Van den Berghe G, Bronfman M, Vanneste R, Hers HG. The mechanism of adenosine triphosphate depletion in the liver after a load of fructose. Biochem J. 1977;162:601.
Lamers JMJ, Hulsmann WC. The effect of fructose on the stores of energy-rich phosphate in rat jejunum in vivo. Biochim Biophys Acta. 1973;313:1.
Burch HB, Lowry OH, Meinhardt L, et al. Effect of fructose, dihydroxyacetone, glycerol, and glucose on metabolites and related compounds in liver and kidney. J Biol Chem. 1970;245:2092.
Morris RC, Nigon K, Reed EB. Evidence that the depletion of inorganic phosphate determines the severity of the disturbance of adenine nucleotide metabolism in the liver and renal cortex of the fructose-loaded rat. J Clin Invest. 1978;61:209.
Raivio KO, Becker MA, Meyer LJ, et al. Stimulation of human purine synthesis de novo by fructose infusion. Metabolism. 1975;24:861.
Itakura M, Sabina RL, Heald PW, Holmes EW. Basis for the control of purine biosynthesis by purine ribonucleotides. J Clin Invest. 1981;67:994.
Vincent MF, Van den Berghe G, Hers HG. Increase in phosphoribosyl pyrophosphate induced by ATP and Pi depletion in hepatocytes. FASEB J. 1989;3:1862.
Kaye R, Williams ML, Barbero G. Comparative study of glucose and fructose metabolism in infants with reference to utilization and to the accumulation of glycolytic intermediates. J Clin Invest. 1958;37:752.
Riddle MC. Endogenous uric acid metabolism in pernicious anemia. J Clin Invest. 1929;8:69.
Opsahl R. Hematopoiesis and endogenous uric acid. Acta Med Scand. 1939;102:611.
Krafka Jr J. Endogenous uric acid and hematopoiesis. II. Uric acid, reticulocytosis and erythrocytes after hemolysis by phenylhydrazine hydrochloride. J Biol Chem. 1929;83:409.
Sears WG. The occurrence of gout during treatment of pernicious anemia. Lancet. 1933;1:24.
Fox IH, Dotten DA, Marchant PJ. Alterations of human purine metabolism in megaloblastic anemia. Adv Exp Med Biol. 1977;76B:249.
Luhby AL, Cooperman JM. Aminoimidazolecarboxamide excretion in vitamin-B12 and folic acid deficiencies. Lancet. 1962;2:1381.
Newcombe DS. The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome. Pediatrics. 1970;46:508.
Hernandez Nieto L, Brito Barroso ML, Nyhan WL. Anemia megaloblastica en la enfremedad de Lesch-Nyhan. Sangre (Barc). 1984;29:476.
Manzke H. Hyperuricamie mit cerebralparese syndrom eines hereditaren purinstoffwechselleidens. Helv Paediatr Acta. 1967;22:258.
Marie J, Royer P, Rappaport R. Hyperuricemie congenitale avec troubles neurologiques, renaux et sanguins. Arch Fr Pediatr. 1967;24:401.
van der Zee SPM, Monnens LAH, Schretlen EDAM. Een hereditaire purinestoffwisselsstoormis met een cerebrale aandoening en megaloblastaire anemie (syndroom von Lesch en Nyhan). Ned Tijdschr Geneeskd. 1968;112:1475.
van der Zee SPM, Lommen EJP, Trijbels JMF, Schretlen EDAM. The influence of adenine on the clinical feature and purine metabolism in the Lesch-Nyhan syndrome. Acta Paediatr Scand. 1970;59:259.
Henderson DA. The aetiology of chronic nephritis in Queensland. Med J Aust. 1958;1:377.
Ball GV, Sorensen LB. Pathogenesis of hyperuricemia in saturnine gout. N Engl J Med. 1968; 280:1199.
Schwartz J, Levin R. The risk of lead toxicity in homes with lead paint hazard. Environ Res. 1991; 54:1.
Delcourt JL, Hamrick HJ, O’Tauma LA, et al. Increased lead burden in children of battery workers: asymptomatic exposure resulting from contaminated work clothing. Pediatrics. 1978;62:563.
Garrettson LK. Childhood lead poisoning in radiator mechanics’ children. Vet Hum Toxicol. 1988;30:112.
Kaye WE, Novotny TE, Tucker M. New ceramics-related industry implicated in elevated blood lead levels in children. Arch Environ Health. 1987;42: 161.
Committee on Lead in the Human Environment: Environmental studies board, Commission on Natural Resources, National Research Council, National Academy of Sciences; 1980.
Crutcher JE. Clinical manifestations and therapy of acute lead intoxication due to the ingestion of illicitly distilled alcohol. Ann Intern Med. 1963;59:707.
CDC. Elevated blood lead levels associated with illicitly distilled alcohol – Alabama, 1990–1991. MMWR Morb Mortal Wkly Rep. 1992;41:294.
Mustajoki P. Lead poisoning from illicit alcohol. Duodecim. 1978;94:993.
Ellis T, Lacy R. Illicit alcohol (moonshine) consumption in West Alabama revisited. South Med J. 1998;91:858.
Lacy R, Winternitz WW. Moonshine consumption in West Alabama. Ala J Med Sci. 1984;21:364.
Pegues DA, Hughes BJ, Woernle CH. Elevated blood lead levels associated with illegally distilled alcohol. Arch Intern Med. 1993;153:1501.
Halla JT, Ball GV. Saturnine gout: a review of 42 patients. Semin Arthritis Rheum. 1982;11:307.
Montgomery R, Finkenbine R. A brief review of moonshine use. Psychiatr Serv. 1999;50:1088.
Ball GV. Two epidemics of gout. Bull Hist Med. 1971;45:401.
Baker G. An essay concerning the cause of the endemial colic of Devonshire. London: J. Hughs; 1767.
Sherlock JC, Pickford CJ, White GF. Lead in alcoholic beverages. Food Addit Contam. 1986;3:347.
Molinini R, Caravella R, Carino M, Nuzzaco A. Three cases of poisoning caused by wine contaminated with lead. G Ital Med Lav. 1985;7:101.
Hight SC. Lead migration from lead crystal wine glasses. Food Addit Contam. 1996;13:747.
Probst-Hensch N, Braun-Fabrlaender C, Bodenmann A, Ackermann-Liebrich U. Alcohol consumption and other lifestyle factors: avoidable sources of excess lead exposure. Soz Praventivmed. 1993;38:43.
Tumpowsky CM, Davis LK, Rabin R. Elevated blood lead levels among adults in Massachusetts, 1991–1995. Public Health Rep. 2000;115:364.
Garrod AB. The nature and treatment of gout and rheumatic gout. London: Walton & Maberg; 1859.
Emmerson BT. Chronic lead nephropathy. Kidney Int. 1973;4:1.
Emmerson BT. Chronic lead nephropathy: the diagnostic uses of calcium EDTA and the association with gout. Australas Ann Med. 1963;12:310.
Emmerson BT. The clinical differentiation of lead gout from primary gout. Arthritis Rheum. 1968; 11:623.
Reynolds PR, Knapp MJ, Baraf HSB, Holmes EW. Moonshine and lead. Relationship to the pathogenesis of hyperuricemia and gout. Arthritis Rheum. 1983;26:1057.
Batuman V, Maesako JK, Haddad B, et al. The role of lead in gout nephropathy. N Engl J Med. 1981; 304:520.
Poor G, Mituszova M. Saturnine gout. Baillieres Clin Rheumatol. 1989;3:51.
Cooper WC, Wong O, Kheifets L. Mortality among employees of lead battery plants and lead-producing plants. Scand J Work Environ Health. 1985;11:331.
Shadick NA, Kim R, Weiss S, et al. Effect of low level lead exposure on hyperuricemia and gout among middle aged and elderly men: the normative aging study. J Rheumatol. 2000;27:1708.
Richet G, Albahary C, Ardaillou R, et al. The kidney in chronic lead poisoning. Rev Fr Etud Clin Biol. 1964;50:188.
Richet G, Albahary C, Morel-Maroger L, et al. Renal changes in 23 cases of occupational lead poisoning. Bull Mem Soc Hop Paris. 1966;117:441.
Craswell PW, Price J, Boyle PD, et al. Patterns of lead excretion in patients with gout and chronic renal failure: a comparative German and Australian study. Sci Total Environ. 1987;66:17.
Wright LF, Saylor RP, Cecere FA. Occult lead intoxication in patients with gout and kidney disease. J Rheumatol. 1984;11:517.
Craswell PW, Price J, Boyle PD, et al. Chronic renal failure with gout: a marker of chronic lead poisoning. Kidney Int. 1984;26:319.
Colleoni N, D’Amico G. Chronic lead accumulation as a possible cause of renal failure in gouty patients. Nephron. 1986;44:32.
Albahary C, Richet G, Guillaume J, Morel-Maroger L. The kidney in occupational lead poisoning. Arch Mal Prof. 1965;26:5.
Sanchez-Fructuoso AI, Torralbo A, Arroyo M, et al. Occult lead intoxication as a cause of hypertension and renal failure. Nephrol Dial Transplant. 1996;11:1775.
Loghman-Adham M. Renal effects of environmental and occupational lead exposure. Environ Health Perspect. 1997;105:928.
Perazella MA. Lead and the kidney: nephropathy, hypertension, and gout. Conn Med. 1996;60:521.
Batuman V. Lead nephropathy, gout, and hypertension. Am J Med Sci. 1993;30:241.
Cledes J, Allain P. Chronic lead nephropathy. Epidemiology and diagnosis. Presse Med. 1992; 21:759.
Nolan CV, Shaikh ZA. Lead nephrotoxicity and associated disorders: biochemical mechanisms. Toxicology. 1992;73:127.
Peitzman SJ, Bodison W, Ellis I. Moonshine drinking among hypertensive veterans in Philadelphia. Arch Intern Med. 1985;145:632.
Miranda ME, Puig JG, Mateos FA, et al. The role of lead in gout nephropathy reviewed: pathogenic or associated factor? Adv Exp Med Biol. 1991;309A:209.
Cullen MR, Robins JM, Eskenazi B. Adult inorganic lead intoxication: presentation of 31 new cases and a review of recent advances in the literature. Medicine. 1983;62:221.
Batuman V, Landy E, Maesaka JR, Weeden RP. Contribution of lead to hypertension with renal impairment. N Engl J Med. 1983;309:17.
Rabinowitz MB, Wetherill GW, Kopple JD. Kinetic analysis of lead metabolism in healthy humans. J Clin Invest. 1976;58:260.
Rempel D. The lead-exposed worker. JAMA. 1989;262:532.
Occupational exposure to lead. Final standard. 43 Federal Register 220:52952–53014 and 225:54353–54616, 1981, 46 Federal Register 238:60758–60766, 1981.
29 CFR 1910.1025 and 1926.62.
Chisholm Jr JJ. Mobilization of lead by calcium disodium edetate. Am J Dis Child. 1987;141:1256.
Weinberger HL, Post EM, Schneider T, et al. An analysis of 248 initial mobilization tests performed on an ambulatory basis. Am J Dis Child. 1987;141:1266.
Cory-Slechta DA, Weiss B, Cox C. Mobilization and redistribution of lead over the course of CaEDTA chelation therapy. J Pharmacol Exp Ther. 1987;243:804.
Hu H, Aro A, Payton M, et al. The relationship of bone and blood lead to hypertension. The normative aging study. JAMA. 1996;275:1171, 1996;276:1038.
Hu H, Raabinowitz M, Smith D. Bone lead as a biological marker in epidemiologic studies of chronic toxicity: conceptual paradigms. Environ Health Perspect. 1998;106:1.
Todd AC. Calculating bone-lead measurement variance. Environ Health Perspect. 2000;108:383, 2000;108:A298.
Wedeen RP, Ty A, Udasin I, et al. Clinical application of in vivo tibial K-XRF for monitoring lead stores. Arch Environ Health. 1995;50:355.
Bateman SN, Pejovic-Milic A, Stronach IM, et al. Performance appraisals of digital spectroscopy systems for the measurement of bone lead. Appl Radiat Isot. 2000;53:647.
Ambrose TM, Al-Lozi M, Scott MG. Bone lead concentrations assessed by in vivo x-ray fluorescence. Clin Chem. 2000;46:1171.
Wedeen RD. In vivo tibial XRF measurements of bone lead. Arch Environ Health. 1990;45:69.
Rosen JF, Markowitz ME, Bijur PE, et al. L-line x-ray fluorescence of cortical bone lead compared with CaNa2EDTA test in lead-toxic children: public health implications. Proc Natl Acad Sci USA. 1989;86:685.
Friedheim E, Graziano JH, Popovac D, et al. Treatment of lead poisoning by 2,3-dimercaptosuccinic acid. Lancet. 1978;2:1234.
Graziano JH, Siris ES, Lolacono N, et al. 2,3-Dimercaptosuccinic acid as an antidote for lead intoxication. Clin Pharmacol Ther. 1985;37:431.
Chisholm Jr JJ, Thomas DJ. Use of 2,3-dimercaptopropane-1-sulfonate in treatment of lead poisoning in children. J Pharmacol Exp Ther. 1985;235:665.
Graziano JH, Lolacono NJ, Meyer P. Dose–response of oral 2,3-dimercaptosuccinic acid in children with elevated blood lead concentrations. J Pediatr. 1988;113:751.
Chisholm Jr JJ. BAL, EDTA, DMSA and DMPS in the treatment of lead poisoning in children. J Toxicol Clin Toxicol. 1992;30:493.
Tutunji MF, al-Mahasneh QM. Disappearance of heme metabolites following chelation therapy with meso 2,3-dimercaptosuccinic acid (DMSA). J Toxicol Clin Toxicol. 1994;32:267.
Aposhian HV, Maiorino RM, Gonzalez-Ramirez D, et al. Mobilization of heavy metals by newer, therapeutically useful chelating agents. Toxicology. 1995;97:23.
Parru S, Alessio L. The use of chelating agents in occupational lead poisoning. Occup Med (Lond). 1996;46:41.
Lifshitz M, Hashkanazi R, Phillip M. The effect of 2,3-dimercaptosuccinic acid in the treatment of lead poisoning in adults. Ann Med. 1997;29:83.
Berlin Jr CM. Lead poisoning in children. Curr Opin Pediatr. 1997;9:173.
Besunder JB, Super DM, Anderson RL. Comparison of dimercaptosuccinic acid and calcium disodium ethylenediaminetetraacetic acid versus dimercaptopropanol and ethylenediaminetetraacetic acid in children with lead poisoning. J Pediatr. 1997;130:966.
Miller AL. Dimercaptosuccinic acid (DMSA), a non-toxic, water-soluble treatment for heavy metal toxicity. Altern Med Rev. 1998;3:199.
Restek-Samarzija N, Blanusa M, Pizent A, et al. Meso-2,3-dimercaptosuccinic acid in the treatment of occupationally exposed lead workers. Arh Hig Rada Toksikol. 1998;49:137.
The Treatment of Lead-Exposed Children (TLC) trial: design and recruitment for a study of the effect of oral chelation on growth and development in toddlers. Paediatr Perinat Epidemiol. 1998;12:313.
Lever SZ, Parsons TL. The presence of lead decreases the availability of meso-2,3-dimercaptosuccinic acid for analysis in the monobromobimane assay. Chem Res Toxicol. 1999;12:1057.
Smith DR, Calacsan C, Woolard D, et al. Succimer and the urinary excretion of essential elements in a primate model of childhood lead exposure. Toxicol Sci. 2000;54:473.
Chisholm Jr JJ. Safety and efficacy of meso-2,3-dimercaptosuccinic acid (DMSA) in children with elevated blood lead concentrations. J Toxicol Clin Toxicol. 2000;38:365.
Ellis MR, Kane KY. Lightening the lead load in children. Am Fam Physician. 2000;62:545, 559.
Markowitz M. Lead poisoning. Pediatr Rev. 2000;21:327.
Eisner ER, Schumacher HR, Sidransky E. Gout and Gaucher disease. Arthritis Rheum. 2000;43:S122.
Chang-Lo M, Yam LT, Rubenstone AI, Schwartz SO. Gaucher’s disease associated with chronic lymphocytic leukemia, gout and carcinoma. J Pathol. 1975;116:203–7.
Liel Y, Hausmann MJ, Moses M. Case report: serendipitous Gaucher’s disease presenting as elevated erythrocyte sedimentation rate due to monoclonal gammopathy. Am J Med Sci. 1991;301:393.
Shoenfeld Y, Berliner S, Pinkhas J, Beutler E. The association of Gaucher’s disease and dysproteinemias. Acta Haematol (Basel). 1980;64:241.
Turesson T, Rausing A. Gaucher’s disease and benign monoclonal gammopathy. A case report with immunofluorescence study of bone marrow and spleen. Acta Med Scand. 1975;197:507.
Pratt PW, Estren F, Kochwa S. Immunoglobin abnormalities in Gaucher’s disease. Report of a case. Blood. 1968;31:633.
Mark T, Dominguez C, Rywlin AM. Gaucher’s disease associated with chronic lymphocytic leukemia. South Med J. 1982;75:361.
Kaufman S, Rozenfeld V, Yona R, Varon M. Gaucher’s disease associated with chronic lymphocytic leukaemia. Clin Lab Haematol. 1986;8:321.
Bruckstein AH, Karanas A, Dire JJ. Gaucher’s disease associated with Hodgkin’s disease. Am J Med. 1980;68:610.
Cho SY, Sastre M. Coexistence of Hodgkin’s disease and Gaucher’s disease. Am J Clin Pathol. 1976;65:103.
Paulson JA, Marti GI, Fink JK, et al. Richter’s transformation of lymphoma complicating Gaucher’s disease. Hematol Pathol. 1989;3:91.
Gal R, Gukovsky-Oren S, Floru S, et al. Sequential appearance of breast carcinoma, multiple myeloma and Gaucher’s disease. Haematologica. 1979;73:63.
Garfinkel D, Sidi Y, Ben-Bassat M, et al. Coexistence of Gaucher’s disease and multiple myeloma. Arch Intern Med. 1982;142:2229.
Benjamin D, Joshua H, Djaldetti M, et al. Nonsecretory IgD-kappa multiple myeloma in a patient with Gaucher’s disease. Scand J Haematol. 1979;22:179.
Lamon J, Miller W, Tavassoli M, et al. Specialty conference: multiple myeloma complicating Gaucher’s disease. West J Med. 1982;136:122.
Ruestow PC, Levinson DJ, Catchatourian R, et al. Coexistence of IgA myeloma and Gaucher’s disease. Arch Intern Med. 1980;140:1115.
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, Inc; 1995. p. 2643.
Beutler E, Gelbart T, Kuhl W, et al. Mutations in Jewish patients with Gaucher disease. Blood. 1992;79:1662.
Beutler E, Gelbart T, Kuhl W, et al. Identification of the second common Jewish Gaucher disease mutation makes population based screening for the heterozygote state. Proc Natl Acad Sci USA. 1991;88:10544.
Beutler E. Gaucher disease: new molecular approaches to diagnosis and treatment. Science. 1992;256:794.
Hadler NM, Franck WA, Bress NM, et al. Acute polyarticular gout. Am J Med. 1974;56:715.
Hench PS. Gout and gouty arthritis. In: Cecil RL, Loeb RF, editors. Textbook of medicine. 9th ed. Philadelphia: Saunders; 1955. p. 643.
Scudmore C. A treatise of the nature and course of gout and gravel. 4th ed. London: Mallett; 1823. p. 64.
Williamson CS. Gout: a clinical study of one hundred and sixteen cases. JAMA. 1920;74:1625.
Brochner-Mortensen K. One hundred gouty patients. Acta Med Scand. 1941;106:81.
Grahame R, Scott JT. Clinical survey of 354 patients with gout. Ann Rheum Dis. 1970;29:461.
McCracken JP, Owen PS, Pratt JH. Gout: still a forgotten disease. JAMA. 1946;131:367.
Seegmiller JE. Diseases of purine and pyrimidine metabolism. In: Bondy PK, Rosenberg LE, editors. Metabolic control and disease. 8th ed. Philadelphia: Saunders; 1980. p. 777.
Emmerson BT, Wyngaarden JB. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency. Science. 1969;166:1533.
Yu TF. Some unusual features of gouty arthritis in females. Arthritis Rheum. 1977;6:247.
Burch TA, O’Brien WM, Reed R, et al. Hyperuricemia and gout in Mariana Islands. Ann Rheum Dis. 1966;25:114.
Reed D, Labarthe D, Stallones R. Epidemiologic studies of serum uric acid levels among Micronesians. Arthritis Rheum. 1972;15:381.
Prior IAM, Rose BS, Harvey HPB, et al. Hyperuricemia, gout, and diabetic abnormality in Polynesian people. Lancet. 1966;1:333.
Lennane GAQ, Rose BS, Isdale IC. Gout in Maori. Ann Rheum Dis. 1960;19:120.
Healey LA, Jones KW. Hyperuricemia in American Samoans. Arthritis Rheum. 1971;14:283.
Chang SJ, Ko YC, Wang TN, et al. High prevalence of gout and related risk factors in Taiwan’s Aborigines. J Rheumatol. 1997;24:1364.
Talbott JH. Gout. New York: Grune & Stratton; 1964. p. 128.
Greenhut IJ, Silver RA, Campbell JA. Occurrence of gout in a female: report of an unusual case. Radiology. 1953;60:257.
Hill IC. Gout. Lancet. 1938;1:826.
Weingold AB. Gout and pregnancy. Obstet Gynecol. 1960;16:309.
Lee FI, Loeffler FE. Gout and pregnancy. J Obstet Gynaecol Br Comm. 1962;69:299.
Friedman EA, Little WA. Pregnancy and gout: a case report. Am J Obstet. 1958;76:913.
Batt RE, Cirksena WJ, Lebherz TB. Gout and salt wasting renal disease during pregnancy; Diagnosis, management, and follow-up. JAMA. 1963;186:835.
Mertz DP, Henninges D, Schwoerer P. Gout and pregnancy. An unusual case with severe hyperlipoproteinaemia. Munch Med Wochenschr. 1972;114:658.
Kelsall JT, O’Hanlon DP. Gout during pregnancy. J Rheumatol. 1994;21:1365.
Lee IS, Hsu CD. Placental pathologies are not associated with hyperuricemia in preeclamptic pregnancies. Conn Med. 1999;63:459.
Fadel HE, Northrop G, Misenhimer HR. Hyperuricemia in pre-eclampsia. A reappraisal. Am J Obstet Gynecol. 1976;125:640.
Riedel H, Eisenbach GM, Henkel E, et al. The clinical significance of hyperuricemia for the prognosis of pregnancy toxemia. Fortschr Med. 1978;96:58.
Chesley LC. Diagnosis of preeclampsia. Obstet Gynecol. 1985;65:423.
Mauy A, Hubel CA, Roberts JA. Hyperuricemia and xanthine oxidase in preeclampsia, revisited. Am J Obstet Gynecol. 1996;174:288.
Mustaphi R, Gopalan S, Dhaliwal L, Surkar AK. Hyperuricemia and pregnancy induced hypertension – reappraisal. Indian J Med Sci. 1996;50:68.
Merviel P, Ba R, Beaufils M, et al. Lone hyperuricemia during pregnancy: maternal and fetal outcomes. Eur J Obstet Gynecol Reprod Biol. 1998;77:145.
Hsiung R, Hasselmann M, Lutun P, Gordji M. Acute fatty liver of pregnancy. Diagnostic value of hyperuricemia in the pre-jaundice stage. J Gynecol Obstet Biol Reprod (Paris). 1988;17:901.
Nishioka N, Mikanagi K. Clinical features of 4,000 gouty subjects in Japan. Adv Exp Med Biol. 1980;122A:47.
Cornelius R, Schneider HJ. Gouty arthritis in the adult. Radiol Clin North Am. 1988;26:1267.
Deesomchok U, Tumrasvin T. A clinical comparison of females and males with gouty arthritis. J Med Assoc Thai. 1989;72:510.
Hauge M, Harvold B. Heredity in gout and hyperuricemia. Acta Med Scand. 1955;152:247.
O’Sullivan JB. Gout in a New England town. A prevalence study in Sudbury, Massachusetts. Ann Rheum Dis. 1969;31:166.
Popert AJ, Hewitt JV. Gout and hyperuricemia in rural and urban populations. Ann Rheum Dis. 1962;21:154.
Smyth CJ, Stecher RM, Wolfson WQ. Genetic and endocrine determinants of the plasma urate level. Science. 1948;108:524.
Delbarre F, Braun S, St. Georges-Chaumet F. La goutte feminine (Analyse de quarante observations). Semin Hop (Paris). 1967;43:623.
Cowdry SC. Hyperuricemia in infectious mononucleosis. JAMA. 1966;196:319.
Nessan VJ, Geerken RC, Ulvilla J. Uric acid excretion in infectious mononucleosis: a function of increased purine turnover. J Clin Endocrinol Metab. 1974;38:652.
Diamond H, Sharon E, Holden D. Renal handling of uric acid in sickle cell anemia. In: Sperling O, DeVries A, Wyngaarden JB, editors. Purine metabolism in man. New York: Plenum; 1973. p. 759.
Glynn RJ, Campion EW, Silbert JE. Trends in serum uric acid levels. 1961–1980. Arthritis Rheum. 1983;26:87.
Myers A, Epstein FH, Dodge HJ, Mikkelsen WM. The relationship of serum uric acid to risk factors in coronary heart disease. Am J Med. 1968;45:520.
Krizek V. Serum uric acid in relation to body weight. Ann Rheum Dis. 1966;25:456.
Gertler MM, Garn SM, Levine SA. Serum uric acid in relation to age and physique in health and in coronary artery disease. Ann Intern Med. 1951;34:1421.
Fessel JW, Siegelaub AB, Johnson ES. Correlates and consequences of asymptomatic hyperuricemia. Arch Intern Med. 1973;132:44.
Loenen HM, Eshuis H, Lowik MR, et al. Serum uric acid correlates in elderly men and women with special reference to body composition and dietary intake (Dutch Nutrition Surveillance System). J Clin Epidemiol. 1990;43:1297.
Emmerson BT, Knowles BR. Triglyceride concentrations in primary gout and gout of chronic lead nephropathy. Metabolism. 1971;20:721.
Heydon S. The workingman’s diet. II. Effect of weight reduction in obese patients with hypertension, diabetes, hyperuricemia and hyperlipidemia. Nutr Metab. 1978;22:141.
Berchtold P, Berger M, Grieser E, et al. Cardiovascular risk factors in gross obesity. Int J Obes. 1977;1:219.
Fessel WJ. High uric acid as an indicator of cardiovascular disease. Independence from obesity. Am J Med. 1980;68:401.
Bonora E, Targher G, Zenere MB, et al. Relationship of uric acid concentration to cardiovascular risk factors in young men. Role of obesity and central fat distribution. The Verona Young Men Atherosclerosis Risk Factor Study. Int J Obes Relat Metab Disord. 1996;20:975.
Chu NF, Wang DJ, Liou SH, Shieh SM. Relationship between hyperuricemia and other cardiovascular disease risk factors among adult males in Taiwan. Eur J Epidemiol. 2000;16:13.
Yamashita S, Matsuzawa Y, Tokunaga K, et al. Studies on the impaired metabolism of uric acid in obese subjects: marked reduction of renal urate excretion and its improvement by a low-calorie diet. Int J Obes. 1986;10:255.
Takahashi S, Yauramoto T, Tsutsumi Z, et al. Close correlation between visceral fat accumulation and uric acid metabolism in healthy men. Metabolism. 1997;46:1162.
Matsuura F, Yamashita S, Nakamura T, et al. Effect of visceral fat obesity on uric acid metabolism in male obese subjects: visceral fat obesity is linked more closely to overproduction of uric acid than subcutaneous fat obesity. Metabolism. 1998;47:929.
Fruehwald-Schultes B, Peters A, Kern W, et al. Serum leptin is associated with serum uric acid concentrations in humans. Metabolism. 1999;48:677.
Monocci A, Savia G, Lucantoni R, et al. Leptin plasma concentrations are dependent on body fat distribution in obese patients. Int J Obes Relat Metab Disord. 2000;24:1139.
Shmulewitz D, Auerbach SB, Lehner T, et al. Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (syndrome X) on the island of Kosrae. Federation states of Micronesia. Hum Hered. 2001;51:8.
Leyva F, Godsland IF, Ghatei M, et al. Hyperleptinemia as a component of a metabolic syndrome of cardiovascular risk. Arterioscler Thromb Vasc Biol. 1998;18:928.
Fried SK, Ricci MR, Russell CD, Laferrere B. Regulation of leptin production in humans. J Nutr. 2000;130:3127.
Khaodhiar L, McCowen KC, Blackburn GL. Obesity and its comorbid conditions. Clin Cornerstone. 1999;2:17.
Benedek TG. Correlations of serum uric acid and lipid concentrations in normal, gouty and atherosclerotic men. Ann Intern Med. 1967;66:851.
Berkowitz D. Gout, hyperlipidemia and diabetes interrelationships. JAMA. 1966;197:77.
Berkowitz D. Blood lipid and uric acid interrelationships. JAMA. 1964;190:856.
Feldman EB, Wallace SL. Hypertriglyceridemia in gout. Circulation. 1964;29:508.
Barlow KA. Hyperlipidemia in primary gout. Metabolism. 1968;17:289.
Gibson T, Grahame R. Gout and hyperlipidemia. Ann Rheum Dis. 1974;33:298.
Jiao S, Kameda K, Matsuzawa Y, Tarui S. Hyperlipoproteinaemic phenotype and influence of alcohol intake and obesity in Japan. Ann Rheum Dis. 1986;44:390.
Ferns GA, Lanham J, Stocks J, et al. The measurement of high density lipoprotein subfractions in patients with primary gout using a simple precipitation method. Ann Clin Biochem. 1985;22:526.
Ulreich A, Kostner GM, Pfeiffer KP, et al. Serum lipids and lipoproteins in patients with primary gout. Rheumatol Int. 1985;5:73.
Jacobelli S, Artega A, Bidegain F. Cholesterol distribution among lipoprotein fractions in patients with gout and normal controls. J Rheumatol. 1986;13:774.
Phillipi T, Barrett-Connor E. Fasting plasma glucose, uric acid, and triglycerides as predictors of the ration of total cholesterol to HDLC. Am J Clin Pathol. 1984;82:329.
Perez-Ruiz F, Calabozo M, Herrero-Beites AM, et al. Improvement of renal function in patients with chronic gout after proper control of hyperuricemia and gouty bouts. Nephron. 2000;86:287.
Harris-Jones JN. Hyperuricemia and essential hypercholesterolemia. Lancet. 1957;1:857.
Salvini L, Verdi G. Statistical study on correlation between blood level of cholesterol beta/alpha lipoprotein ratio and uric acid of normal and arteriosclerotic subjects. Gerontologia. 1959;3:327.
Jensen J, Blankenhorn DH, Dornerup V. Blood uric acid levels in familial hypercholesterolemia. Lancet. 1966;1:298.
Strejcek J, Kucerova L. Idiopathic hyperlipidemia and gout. Acta Rheumatol Scand. 1968;14:95.
Brunzele JD, Bierman EL. Chylomicronemia syndrome: Interaction of genetic and acquired hypertriglyceridemia. Med Clin North Am. 1982;66:455.
Fallat RW, Glueck CJ. Familial and acquired type V hyperlipoproteinemia. Atherosclerosis. 1976;23:41.
Lipid Research Clinics Programs: the prevalence study. In: Population studies data book I. Bethesda: US Department of Health and Human Services, National Institutes of Health, Publication 80–1527; 1980.
Hunt SC, Wu LL, Hopkins PN, et al. Apolipoprotein, low density lipoprotein subfraction and insulin associations with familial combined hyperlipidemia. Study of Utah patients with familial dyslipidemic hypertension. Arteriosclerosis. 1989;9:335.
Williams RR, Hunt SC, Hopkins PN, et al. Familial dyslipidemic hypertension: Evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension. JAMA. 1988;259:3579.
Goldstein JL, Schrott HG, Hazzard WL, et al. Hyperlipidemia in coronary artery disease. II. Genetic analysis of lipid levels of 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973;52:1544.
Rose HG, Kranz P, Weinstock M, et al. Inheritance of combined hyperlipoproteinemia. Evidence for a new lipoprotein phenotype. Am J Med. 1973;54:148.
Vaverkova H, Weinberg AO, Horcicika V, et al. Familial combined hyperlipidemia. Part I. Lipid values and the lipoprotein pattern. Acta Univ Palacki Olomuc Fac Med. 1986;113:193.
Austin MA, Brunzell J, Fitch WL, Krauss RM. Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia. Arteriosclerosis. 1990;10:520.
Austin MA, King M-C, Vranizan KM, Krauss RM. Atherogenic lipoprotein phenotype: a proposed genetic marker for coronary heart disease. Circulation. 1990;82:495.
Pitkanen OP, Nuutila P, Raitakari OT, et al. Coronary flow reserve in young men with familial combined hyperlipidemia. Circulation. 1999;99:1678.
Pajukanta P, Porkka KV. Genetics of familial combined hyperlipidemia. Curr Atheroscler Rep. 1999; 1:79.
Gehrisch S, Kostka H, Tiebel M, et al. Mutations of the hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. J Mol Med. 1999;77:728.
Jarvik GP, Beaty TH, Gallagher PR, et al. Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia. Genet Epidemiol. 1993;10:257.
Ribalta J, La Ville AE, Heras M, et al. Familial combined hyperlipidemia: detection and characterization of the hyperlipidemic profile among children and adolescents. Med Clin (Barc). 1997;109:161.
Aouizerat BE, Allayee H, Bodnar J, et al. Novel genes for familial combined hyperlipidemia. Curr Opin Lipidol. 1999;10:113.
Sasaki J. Familial combined hyperlipidemia. Nippon Rinsho. 1999;57:2776.
East C, Bilheimer DW, Grundy SM. Combination drug therapy for familial combined hyperlipidemia. Ann Intern Med. 1988;109:25.
Fredrickson DS, Goldstein JS, Brown MS. The familial hyperlipoproteinemias. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, editors. The metabolic basis of inherited disease. 4th ed. New York: McGraw-Hill, Inc; 1978. p. 604.
Bergeron J, Normand T, Bharucha A, et al. Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in French Canadian population of Quebec. Clin Genet. 1992;41:206.
Wilson DE, Emi M, Iverius P-H, et al. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest. 1990;86:735.
Breckenridge WC, Little JA, Steiner G, et al. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med. 1978;298:1265.
Brunzell JD, Miller NE, Alaupovic P, et al. Familial Chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res. 1983;24:12.
Beaumont JL, Carlson LA, Cooper GR, et al. Classification of hyperlipidemias and hyperlipoproteinemias. Bull World Health Organ. 1971;43:891.
Greenberg BH, Blackwelder WC, Levy RI. Primary type V hyperlipoproteinemia. A descriptive study of 32 families. Ann Intern Med. 1977;87:526.
Chait A, Robertson HT, Brunzell JD. Chylomicronemia syndrome in diabetes mellitus. Diabetes Care. 1981;4:343.
Chait A, Brunzell JD. Severe Hypertriglyceridemia: role of familial and acquired disorders. Metabolism. 1983;32:209.
Brunzell JD, Chait A. Lipoprotein metabolism. In: Rifkin H, Porte Jr D, editors. Ellenberg and Rifkin’s diabetes mellitus. New York: Elsevier; 1989.
Brunzell JD, Bierman EL. Chylomicronemia syndrome: interaction of genetic and acquired hypertriglyceridemia. Med Clin North Am. 1982;66:455.
Brunzell JD, Schrott HG. The interaction of familial and secondary causes of hypertriglyceridemia: role of pancreatitis. Trans Assoc Am Physicians. 1973;86:245.
Brunzell JD, Schrott HG, Motulsky AG, Bierman EL. Myocardial infarction in the familial forms of hypertriglyceridemia. Metabolism. 1976;25:313–20.
Fredrickson DS, Levy RI, Lees KS. Fat transport in lipoproteins – an integrated approach to mechanisms and disorders. N Engl J Med. 1967;276:34.
Morganroth J, Levy RI, Fredrickson DS. The biochemical, clinical, and genetic features of type III hyperlipoproteinemia. Ann Intern Med. 1975;82:158.
Mahley RW, Apolipoprotein E. Cholesterol transport protein with expanding role in cell biology. Science. 1988;240:622.
Havel RJ. Familial dysbetalipoproteinemia. New aspects of pathogenesis and diagnosis. Med Clin North Am. 1982;66:441.
Mahley RW, Weisgraber KH, Innerarity TL, Rall Jr SC. Genetic defects in lipoprotein metabolism: elevation of atherogenic lipoproteins caused by impaired catabolism. JAMA. 1991;265:78.
Mahley RW, Hussain MM. Chylomicron and chylomicrons remnant catabolism. Curr Opin Lipidol. 1991;2:170.
Rall Jr SC, Mahley RW. The role of apolipoprotein E genetic variants in lipoprotein disorders. J Intern Med. 1992;231:653.
Hazzard WR, Bierman EL. Aggravation of broad-ß disease (type 3 hyperlipoproteinemia) by hypothyroidism. Arch Intern Med. 1972;130:822.
Feussner G, Ziegler R. Expression of type III hyperlipoproteinemia in a subject with secondary hypothyroidism bearing the apolipoprotein E2/2 phenotype. J Intern Med. 1991;230:183.
Brown MS, Goldstein JL. Lipoprotein receptors in the liver. Control of signals for plasma cholesterol traffic. J Clin Invest. 1983;72:743.
Angelin B, Raviola CA, Innerarity TL, Mahley RW. Regulation of hepatic lipoprotein receptors in the dog. Rapid regulation of apolipoprotein B, E receptors, but not of apolipoprotein E receptors, by intestinal lipoproteins and bile acids. J Clin Invest. 1983;71:816.
Myant NB. Cholesterol metabolism, LDL, and IDL receptors. San Diego: Academic; 1990.
Havel RJ, Goldstein JL, Brown MS. Lipoproteins and lipid transport. In: Bondy PK, Rosenberg LE, editors. Metabolic control and disease. 8th ed. Philadelphia: Saunders; 1980. p. 393.
Mahley RW, Hui DY, Innerarity TL, Weisgraber KH. Two independent lipoprotein receptors on hepatic membranes of dog, swine, and man. Apo-B,E and apo-E receptors. J Clin Invest. 1981; 68:1197.
Falko JM, Schonfeld G, Witztum JL, et al. Effects of estrogen therapy on apolipoprotein E in type III hyperlipoproteinemia. Metabolism. 1979;78:1171.
Kushwaha RS, Hazzard WR, Gagne C, et al. Type III hyperlipoproteinemia: paradoxical hypolipidemic response to estrogen. Ann Intern Med. 1977;87:517.
Thompson GR, Soutar AK, Spengel FA, et al. Defects of receptor-mediated low density lipoprotein catabolism in homozygous familial hypercholesterolemia and hypothyroidism in vivo. Proc Natl Acad Sci USA. 1981;78:2591.
Hopkins PN, Wu LL, Schumacher MC, et al. Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction. Arterioscler Thromb. 1991;11:1137.
Hazzard WR, Warnick GR, Utermann G, Albers JJ. Genetic transmission of isoapolipoprotein E phenotypes in a large kindred: Relationship to dysbetalipoproteinemia and hyperlipidemia. Metabolism. 1981;30:79.
Chait A, Albers JJ, Brunzell JD. Very low density lipoprotein overproduction in genetic forms of hypertriglyceridaemia. Eur J Clin Invest. 1980;10:17.
Tall A, Granot E, Brocia R, et al. Accelerated transfer of cholesteryl esters in dyslipidemic plasma. Role of cholesteryl ester transfer protein. J Clin Invest. 1987;79:1217.
Wardell MR, Weisgraber KH, Havekes LM, Rall Jr SC. Apolipoprotein E 3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121 to 127. J Biol Chem. 1989;264:21205.
van den Maagdenberg AMJM, de Kuijff P, Stalenhoef AFH, et al. Apolipoprotein E 3-Leiden allele results from a partial gene duplication in exon 4. Biochem Biophys Res Commun. 1989;165:851.
Horie Y, Fazio S, Westerlund JR, et al. The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. J Biol Chem. 1992;267:1962.
Fazio S, Horie Y, Weisgraber KH, et al. Preferential association of apolipoproteins E Leiden with very low density lipoproteins of human plasma. J Lipid Res. 1993;34:447.
Ji Z-S, Fazio S, Mahley RW. Variable heparan sulfate proteoglycan binding of apolipoprotein E variants may modulate the expression of type III hyperlipoproteinemia. J Biol Chem. 1994;269:13421.
Weisgraber KH, Rall Jr SC, Mahley RW, et al. Human apolipoprotein E. Determination of the heparin binding sites of apolipoprotein E 3. J Biol Chem. 1986;261:2608.
Parker F. Xanthomas and hyperlipidemias. J Am Acad Dermatol. 1985;13:1.
Haber C, Kwiterovich Jr PO. Dyslipoproteinemia and xanthomatosis. Pediatr Dermatol. 1984;1:261.
Borrie P. Type III hyperlipoproteinaemia. Br Med J. 1969;2:665.
Mishkel MA. Type III hyperlipoproteinaemia with xanthomatosis. In: Peters H, editor. Protides of the biological fluids. Oxford: Pergamon; 1972. p. 283.
Vermeer BJ, Van Gent CM, Goslings B, Polano MK. Xanthomatosis and other clinical findings in patients with elevated levels of very low density lipoproteins. Br J Dermatol. 1979;100:657.
Stuyt PMJ, Van’t Laar A. Clinical features of type III hyperlipoproteinaemia. Neth J Med. 1983;26:104.
Norum KR, Gjone E. Familial plasma lecithin:cholesterol acyltransferase deficiency. Biochemical study of a patient with a new inborn error of metabolism. Scand J Clin Lab Invest. 1967;20:231.
Gjone E, Norum KR. Familial serum-cholesterol ester deficiency: clinical study of a patient with a new syndrome. Acta Med Scand. 1968;183:387.
Torsvik H, Gjone E, Norum KR. Familial plasma cholesterol ester deficiency: clinical studies in a family. Acta Med Scand. 1968;183:107.
Carlson LA, Philipson B. Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinemia. Lancet. 1979;2:921.
Carlson LA. Fish eye disease: a new family condition with massive corneal opacities and dyslipoproteinaemia. Eur J Clin Invest. 1982;12:41.
Gjone E. Familial lecithin:cholesterol acyltransferase deficiency: a clinical survey. Scand J Clin Lab Invest. 1974;33 Suppl 137:73.
Assmann G, Von Eckardstein A, Funke H. Lecithin:cholesterol acyltransferase deficiency and fish eye disease. Curr Opin Lipidol. 1991;2:110.
Glomset JA, Norum KR. The metabolic role of lecithin:cholesterol acyltransferase: perspectives from pathology. Adv Lipid Res. 1973;11:1.
Klein H-G, Santamarina-Fojo S, Duverger N, et al. Fish-eye syndrome: a molecular defect in the lecithin:cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity: implications for classification and prognosis. J Clin Invest. 1993;92:479.
Forte TM, Carlson LA. Electron microscopic structure of serum lipoproteins from patients with fish eye disease. Arteriosclerosis. 1984;4:130.
Tybjaerg-Hansen A, Nordestgaard BG, Gerdes LU, et al. Genetic markers in the apo A1-CIII-AIV gene cluster for combined hyperlipidemia, hypertriglyceridemia, and predisposition to atherosclerosis. Atherosclerosis. 1993;100:157.
Moennig G, Wiebusch H, Enbergs A, et al. Detection of missense mutations in the genes for lipoprotein lipase and hepatic triglyceride lipase in patients with dyslipidemia undergoing coronary angiography. Atherosclerosis. 2000;149:395.
Holzl B, Kraft HG, Wiebusch H, et al. Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23. J Lipid Res. 2000;41:234.
Ordovas JM, Civeira F, Genest Jr J, et al. Restriction fragment length polymorphisms of the apolipoprotein A-1, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis. 1991;87:75.
Rees A, Shoulders CC, Stocks J, et al. DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridemia. Lancet. 1983;1:444.
Aalto-Setala K, Kontula K, Sane T, et al. DNA polymorphisms of apolipoprotein A-1/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease. Atherosclerosis. 1987;66:145.
Hayden MR, Kirk H, Clark C, et al. DNA polymorphisms in and around the apo A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet. 1987;40:421.
Rees A, Stocks J, Sharpe CR, et al. Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia. J Clin Invest. 1985;76:1090.
Chamberlain JC, Thorn JA, Oka K, et al. DNA polymorphisms at the lipoprotein lipase gene: association in normal and hypertriglycerideaemic subjects. Atherosclerosis. 1989;79:85.
Dammerman M, Sandkuijl LA, Halaas JL, et al. An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3’ untranslated region polymorphisms. Proc Natl Acad Sci USA. 1993;90:4562.
Needham EW, Mattu RK, Rees A, et al. A polymorphism in the human apolipoprotein A1 promoter region: a study in hypertriglyceridaemic patients. Hum Hered. 1994;44:94.
Barre DE, Guerra R, Verstraete R, et al. Genetic analysis of a polymorphism in the human apolipoprotein A-1 gene promoter: effect on plasma HDL cholesterol levels. J Lipid Res. 1994;35:1292.
Tsai MY, Hanson NQ, Copeland KR, et al. Determination of a T/G polymorphism at nucleotide 3206 of the apolipoprotein CIII gene by amplification refractory mutation system. Clin Chem. 1994;40:2235.
Zeng Q, Dammerman M, Takada Y, et al. An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population. Hum Genet. 1995;95:371.
Zhang Q, Liu Y, Liu BW, et al. Common genetic variants of lipoprotein lipase and apolipoproteins A1-CIII that relate to coronary artery disease: a study in Chinese and European subjects. Mol Genet Metab. 1998;64:177.
Zhang Q, Liu B, Liu Y, et al. DNA polymorphisms of apolipoprotein A1 gene in Chinese endogenous hypertriglyceridemics. Hua His I Ko Ta Hsueh Hsueh Pao. 1997;28:233.
Schonfeld G, George PK, Miller J, et al. Apolipoprotein C-II and C-III levels in hyperlipoproteinemia. Metabolism. 1979;28:1001.
Ghiselli G, Schaefer EJ, Zech LA, et al. Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia. J Clin Invest. 1982;70:474.
Kuusi T, Taskinen M-R, Solakivi T, Kauppinen-Makelin R. Role of apolipoproteins E and C in type V hyperlipoproteinemia. J Lipid Res. 1988;29:293.
Hegele RA, Breslow JL. Apolipoprotein genetic variation in the assessment of atherosclerosis susceptibility. Genet Epidemiol. 1987;4:163.
Fox IH, John D, De Bruyne S, et al. Hyperuricemia and hypertriglyceridemia: metabolic basis for the association. Metabolism. 1985;34:741.
Giacomello A, Sciascio N, Quaratino CP. Relation between serum triglyceride level, serum urate concentration, and fractional urate excretion. Metabolism. 1977;46:1085.
Tinahones JF, Perez-Lindon G, C-Soriguer FJ, et al. Dietary alterations in plasma very low density lipoprotein levels modify renal excretion of urates in hyperuricemic-hypertriglyceridemic patients. J Clin Endocrinol Metab. 1997;82:1188.
Matsubara K, Matsuzawa Y, Jiao S, et al. Relationship between hypertriglyceridemia and uric acid production in primary gout. Metabolism. 1989;38:698.
Tinahones FJ, Collantes E, C-Soriguer FJ, et al. Increased VLDL levels and diminished renal excretion of uric acid in hyperuricaemic-hypertriglyceridaemic patients. Br J Rheumatol. 1995;34:920.
Timar O, Sester F, Levy E. Metabolic syndrome X: a review. Can J Cardiol. 2000;16:779.
Wassef GN. Lipoprotein (a) in android obesity and NIDDM: a new member in “the metabolic syndrome”. Biomed Pharmacother. 1999;53:462.
Miccoli R, Ceraudo AM, Manfredi SG, et al. Atherogenic dyslipidemia, metabolic syndrome and cardiovascular risk. Cardiologia. 1999;44:885.
Huth K, Burkard M, Goebel T. Dyslipoproteinemia and diabetes mellitus in a metabolic syndrome. Fortschr Med. 1992;110:200.
Vuorinen-Markkola H, Yki-Jaarvinen H. Hyperuricemia and insulin resistance. J Clin Endocrinol Metab. 1994;78:25.
Steinmetz A, Schafer JR. Secondary disorders of lipid metabolism, metabolic syndrome and familial combined hyperlipidemia. Wien Med Wochenschr. 1994;144:299.
Reaven GM. The kidney: an unwilling accomplice in syndrome X. Am J Kidney Dis. 1997;30:928.
Grundy SM. Hypertriglyceridemia, atherogenic dyslipidemia and the metabolic syndrome. Am J Cardiol. 1998;81:18B.
Wasada T, Katsumori K, Saeki A, Iwatani M. Hyperuricemia and insulin resistance. Nippon Rinsho. 1996;54:3293.
Rathmann W, Funkhouser E, Dyer AR, Roseman JM. Relations of hyperuricemia with the various components of the insulin resistance syndrome in young black and white adults: the CARDA study. Coronary Artery Risk Development in Young Adults. Ann Epidemiol. 1998;8:250.
Dessein PH, Shipton EA, Stanwix AE, et al. Beneficial effects of weight loss associated with moderate calorie/carbohydrate restriction, and increased proportional intake of protein and unsaturated fat on serum urate and lipoprotein levels in gout: a pilot study. Ann Rheum Dis. 2000;59:539.
Gerhardt U, Grosse Huttmann M, Hohage H. Influence of hyperglycemia and hyperuricemia on long-term transplant survival in kidney transplant recipients. Clin Transplant. 1999;13:375.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol. 1998;51:147.
Iannello S, Cavaliere G, Ferro G, et al. Tophaceous gout in plurimetabolic syndrome. Minerva Med. 1998;89:419.
Wien YT, Chan CS, Liu CS. Hyperuricaemia and type 2 diabetes mellitus. Diabetes Nutr Metab. 1999;12:286.
Lai SW, Tan CK, Ng KC. Epidemiology of hyperglycemia in elderly persons. J Geront A Biol Sci Med Sci. 2000;55:M257.
Wyngaarden JB, Kelley WN. Gout. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, editors. The metabolic basis of inherited disease. 4th ed. New York: McGraw-Hill, Inc; 1978. p. 916.
Wyngaarden JB, Kelley WN. Gout and hyperuricemia. New York: Grune & Stratton; 1976. p. 32.
Cannon PJ, Stason WB, Demartini FE. Hyperuricemia in primary and renal hypertension. N Engl J Med. 1966;275:457.
Garrick R, Bauer GE, Evan CE. Serum uric acid in normal and hypertensive Australian subjects: from a continuing epidemiological survey on hypertension commenced in 1955. Aust N Z J Med. 1972;2:351.
Breckenridge A. Hypertension and hyperuricemia. Lancet. 1966;1:15.
Saggiani F, Pilati S, Targher G, et al. Serum uric acid and related factors in 500 hospitalized patients. Metabolism. 1996;45:1557.
Kannel WB, Wilson PW, Zhang TJ. The epidemiology of impaired glucose intolerance and hypertension. Am Heart J. 1991;121:1268.
Zanchetti A. Hyperlipidemia in the hypertensive patient. Am J Med. 1994;96:35.
Berchtod P, Berger M, Jorgens V, et al. Cardiovascular risk factors and HDL-cholesterol levels in obesity. Int J Obes. 1981;5:1.
Dollery CT. Risk predictors, risk indicators, and benefit factors in hypertension. Am J Med. 1987;82:2.
Heyden S, Borhani NO, Tyroler HA, et al. The relationship of weight change to changes in blood pressure, serum uric acid, cholesterol and glucose in the treatment of hypertension. J Chronic Dis. 1985;38:281.
Johnson RJ, Kivlighn SD, Kim YG, et al. Reappraisal of the pathogenesis and consequences of hyperuricemia in hypertension, cardiovascular disease, and renal disease. Am J Kidney Dis. 1999;33:225.
Messerli FH, Frohlich ED, Dreslinski GR, et al. Serum uric acid in essential hypertension: an indicator of renal vascular involvement. Ann Intern Med. 1980;93:817.
Saito I, Saruta T, Kondo K. Serum uric acid and the renin-angiotensin system in hypertension. J Am Geriatr Soc. 1978;26:241.
Prebis JW, Gruskin AB, Polinsky MS. Uric acid in childhood essential hypertension. J Pediatr. 1981;98:702.
Simon NM, Smucker JE, O’Connor Jr VJ. Differential uric acid excretion in essential and renal hypertension. Circulation. 1969;39:121.
Donskov AS, Balkarov IM, Fadina ZM, et al. Urate affection of kidneys and metabolic disturbances in hypertensive patients. Ter Arkh. 1999;71:53.
Ruilope LM, Rodicio JL. Renal surrogates in essential hypertension. Clin Exp Hypertens. 1999;21:609.
Nishioka K, Mikanagi K. A retrospective study of the cause of death, in Japan, of patients with gout. Ryumachi. 1981;21:29.
Brand FN, McGee DL, Kannel WB, et al. Original contributions: hyperuricemia as a risk factor of coronary heart disease: the Framingham study. Am J Epidemiol. 1985;121:11. Peterson B, Trell E. Raised serum urate concentrations as risk factor for premature mortality in middle aged men. Br Med J. 1983;287:7.
Reunanen A, Takkunen H, Knekt P, Aromaa A. Hyperuricemia as a risk factor for cardiovascular mortality. Acta Med Scand. 1982;668:49.
Beard JT. Serum uric acid and coronary heart disease. Am Heart J. 1983;106:397.
Peterson B, Trell E. Raised serum urate concentrations as a risk factor for premature mortality in middle aged men. Br Med J. 1983;287:7.
Tsutsumi Z, Yamamoto T, Takahashi S, et al. Gout and atherosclerosis. Nippon Rinsho. 1996;54:3297.
Ames BN, Cathcart R, Schwiers E, Hochstein P. Uric acid provides an antioxidant defense in humans against oxidant- and radical-caused aging and cancer: a hypothesis. Proc Natl Acad Sci USA. 1981;78:6858.
Cutler RG. Urate and ascorbate: their possible roles as antioxidants in determining longevity of mammalian species. Arch Gerontol Geriatr. 1984;3:321.
Sevanian A, Davies KJ, Hochstein P. Conservation of vitamin C by uric acid in blood. J Free Radic Biol Med. 1985;1:117.
Davies KJ, Sevanian A, Muakkassah-Kelly SF, Hochstein P. Uric acid-iron ion complexes. A new aspect of the antioxidant functions of uric acid. Biochem J. 1986;235:747.
Wayner DD, Burton GW, Ingold KU, et al. The relative contributions of vitamin E, urate, ascorbate, and proteins to the total peroxyl radical-trapping antioxidant activity of human blood plasma. Biochim Biophys Acta. 1987;924:408.
Maples KR, Mason RP. Free radical metabolite of uric acid. J Biol Chem. 1988;263:1709.
Peden DB, Hohman R, Brown ME, et al. Uric acid is a major antioxidant in human nasal airway secretions. Proc Natl Acad Sci USA. 1990;87:7638.
Sevanian A, Davies KJ, Hochstein P. Serum urate as an antioxidant for ascorbic acid. Am J Clin Nutr. 1991;54(suppl):1129S.
Becker BF. Towards the physiological function of uric acid. Free Radic Biol Med. 1993;14:615.
Leyton ME, Wood JG, Yan ZY, Forster J. Ischemia/reperfusion alters uric acid and ascorbic acid levels in liver. J Surg Res. 1996;64:1.
Sahnown Z, Jamoussi K, Zeghal KM. Free radicals and antioxidants: human physiology, pathology and therapeutic aspects. Therapie. 1997;52:251.
Rosell M, Regnstrom J, Kallner A, Hellenius ML. Serum urate determines antioxidant capacity in middle-aged men – a controlled, randomized diet and exercise intervention study. J Intern Med. 1999;246:219.
Skinner KA, White CR, Patel R, et al. Nitrosation of uric acid by peroxynitrite Formation of a vasoactive nitric oxide donor. J Biol Chem. 1998;273:24491.
Holvoet P. Endothelial dysfunction, oxidation of low-density lipoprotein, and cardiovascular disease. Ther Apher. 1999;3:287.
Navab M, Berliner JA, Watson AD, et al. The yin and yang of oxidation in the development of the fatty streak: a review based on the 1994 George Lyman Duff Memorial Lecture. Arterioscler Thromb Vasc Biol. 1996;16:831.
Parhami F, Fang ZT, Fogelman AM, et al. Minimally modified low density lipoprotein-induced inflammatory responses in endothelial cells are mediated by cyclic adenosine monophosphate. J Clin Invest. 1993;92:471.
Henriksen T, Mahoney EM, Steinberg D. Enhanced macrophage degradation of low density lipoprotein previously incubated with cultured endothelial cells: recognition by receptors for acylated low density lipoproteins. Proc Natl Acad Sci USA. 1981;78:6499.
Kaplan M, Aviram M. Oxidized low density lipoprotein: atherogenic and proinflammatory characteristics during macrophage foam cell formation. An inhibitory role for nutritional antioxidants and serum paraoxonase. Clin Chem Lab Med. 1999;37:777.
Quinn MT, Parthasarathy S, Steinberg D. Lysophosphatidylcholine: a chemotactic factor for human monocytes and its potential role in atherogenesis. Proc Natl Acad Sci USA. 1988;85:2805.
Frostegard J, Haegerstrand A, Gidlund M, Nilsson J. Biologically modified LDL increases the adhesive properties of endothelial cells. Atherosclerosis. 1991;90:119.
Quinn MT, Parthasarathy S, Fong LG, Steinberg D. Oxidatively modified low density lipoproteins: a potential role in recruitment and retention of monocyte/macrophages during atherogenesis. Proc Natl Acad Sci USA. 1987;84:2995.
Schwartz CJ, Valente AJ, Sprague EA. The pathogenesis of atherosclerosis: an overview. Clin Cardiol. 1991;14(suppl):11.
Cathcart MK, Morel DW, Chisholm III GM. Monocytes and neutrophils oxidize low density lipoprotein making it cytotoxic. J Leukoc Biol. 1985;38:341.
Palinski W, Rosenfeld ME, Yla-Herttuala S, et al. Low density lipoprotein undergoes oxidative modification in vivo. Proc Natl Acad Sci USA. 1989;86:1372.
Salonen T, Yla-Herttuala S, Yamamoto R, et al. Autoantibody against oxidized LDL and progression of carotid atherosclerosis. Lancet. 1992;339:883.
Holvoet P, Perez G, Zhao Z, et al. Malondialdehyde-modified low density lipoproteins in patients with atherosclerotic disease. J Clin Invest. 1995;95:2611.
Abuja PM. Ascorbate prevents prooxidant effects of urate in oxidation of human low density lipoprotein. FEBS Lett. 1999;446:305.
Schlotte V, Sevanian A, Hochstein P, Weithmann KU. Effect of uric acid and chemical analogues on oxidation of human low density lipoprotein in vitro. Free Radic Biol Med. 1998;25:839.
Nieto FJ, Iribarren C, Gross MD, et al. Uric acid serum antioxidant capacity: a reaction to atherosclerosis? Atherosclerosis. 2000;148:131.
Hasegawa T, Kuroda M. A new role of uric acid as an antioxidant in human plasma. Rinsho Byori. 1989;37:1020.
Boda D. Role of hyperuricemia in critically ill patients especially newborns. Acta Paediatr Hung. 1984;25:23.
Jabs CM, Sigurdsson GH, Neglen P. Plasma levels of high-energy compounds compared with severity of illness in critically ill patients in the intensive care unit. Surgery. 1998;124:65.
MacKinnon KL, Molnar Z, Lowe D, et al. Measures of total free radical activity in critically ill patients. Clin Biochem. 1999;32:263.
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Newcombe, D.S. (2013). Clinical Aspects of Gout and Associated Disease States. In: Robinson, D. (eds) Gout. Springer, London. https://doi.org/10.1007/978-1-4471-4264-5_5
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