Abstract
The literature on the pathogenesis of hyperuricemia have been limited to the discussion of metabolic syndromes associated with risk factors for atherosclerosis and hyperuricemia and the genetics of the juvenile form of hyperuricemic nephropathies. A few new mutations in the hypoxanthine-guanine phosphoribosyltransferase gene, which result in Lesch-Nyhan syndrome, have been described. In addition, some new insight has been gained in the renal handling of uric acid by the human kidney.
Similar content being viewed by others
References and Recommended Reading
Chou CT, Chao PM: Lipid abnormalities in Taiwan aborigines with gout. Metabolism 1999, 48:131–133.
Lin KC, Lin HY, Chou P: Community based epidemiological study on hyperuricemia and gout in Kin-Hu, Kinmen. J Rheumatol 2000, 27:1045–1050.
Takahashi S, Yamamoto T, Tsutsumi Z, et al.: Close correlation between visceral fat accumulation and uric acid metabolism in healthy men. Metabolism 1997, 46:1162–1165.
Fam AG: What is new about crystals other than monosodium urate? Curr Opin Rheumatol 2000, 12:228–234.
Hayashi H, Nagasaka S, Ishikawa S, et al.: Contribution of a missence mutation (Trp64Arg) in beta3-adrenergic receptor gene to multiple risk factors in Japanese men with hyperuricemia. Endocr J 1998, 45:779–784.
Fruehwald-Schultes B, Peters A, Kern W, Beyer J, Pfutzner A: Serum leptin is associated with serum uric acid concentrations in humans. Metabolism 1999, 48:677–680. A cross-sectional study that evaluated the relationship between serum leptin levels and the insulin resistance-related metabolic syndrome. A positive correlation between leptin and urate levels was found, which suggests the former to be the pathogenetic factor in hyperuricemia associated with obesity.
Reed DR, Price RA: X-linkage does not account for the absence of father-son similarity in plasma uric acid concentration. Am J Med Genet 2000, 92:142–146.
Chang SJ, Chang JG, Chen CJ, et al.: Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou)) from a Taiwanese aboriginal family with severe gout. J Rheumatol 1999, 26:1802–1807.
McBride MB, Rigden S, Haycock GB, et al.: Presymptomatic detection of familial juvenile hyperuricemic nephropathy in children. Pediatr Nephrol 1998, 12:357–364. A study of apparently healthy children from families with familial juvenile hyperuricemic nephropathy highlights the dominant inheritance and the importance of early metabolic screening and diagnosis of the disorder, because presymptomatic treatment with allopurinol retards disease progression and morbidity due to renal failure.
Kamatani N, Moritani M, Yamanaka H, et al.: Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p2 by genome-wide linkage analysis of a large family. Arthritis Rheum 2000, 43:925–929. This study found the first genetic map position for hyperuricemia of underexcretion type in the form of familial juvenile hyperuricemic nephropathy, the gene for which was found to reside in chromosome 16. This would help in early diagnosis in certain high-risk families and in testing the genetic heterogeneity of familial juvenile hyperuricemic nephropathy.
Ahmed M, Taylor W, Smith PR, Becker MA: Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. J Biol Chem 1999, 274:7482–7488.
Lhotta K, Gruber J, Sgonc R, Fend F, Konig P: Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy. Nephron 1998, 79:340–344.
Stavrou C, Pierides A, Zouvani I, et al.: Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. Am J Med Genet 1998, 77:149–154.
Maesaka JK, Fishbane S: Regulation of renal urate excretion: a critical review. Am J Kidney Dis 1998, 32:917–933.
Steele TH: Hyperuricemic nephropathies. Nephron 1998, 81:45–49.
Caspi D, Lubart E, Graff E, et al.: The effect of mini-dose aspirin on renal function and uric acid handling in elderly patients. Arthritis Rheum 2000, 43:103–108.
Puig JG, Mateos FA, Miranda ME, et al.: Purine metabolism in women with primary gout. Am J Med 1994, 97:332–338.
Yamamoto T, Moriwaki Y, Takahashi S, et al.: Effect of amino acids on the plasma concentration and urinary excretion of uric acid and uridine. Metabolism 1999, 48:1023–1027.
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 hyperuricemichypertriglyceridemic patients. J Clin Endocrinol Metab 1997, 82:1188–1191.
Johnson RJ, Kivlighn SD, Kim YG, Suga S, Fogo AB: Reappraisal of the pathogenesis and consequences of hyperuricemia in hypertension, cardiovascular disease, and renal disease. Am J Kidney Dis 1999, 33:225–234. This review paper focuses on the association between hyperuricemia and hypertension and cardiovascular disease. Uric acid level was found to be independently associated with increased mortality by multivariate analysis. Hyperuricemia may be mediated by intrarenal ischemia with lactate generation and the inhibition of the urate excretion by the anion-exchange transport system.
Emmerson B: Hyperlipidaemia in hyperuricaemia and gout. Ann Rheum Dis 1998, 57:509–510.
Hmida MB, Hachicha J, Bahloul Z, et al.: Cyclosporineinduced hyperuricemia and gout in renal transplants. Transplant Proc 1995, 27:2722–2724.
Yamamoto T, Moriwaki Y, Takahashi S, et al.: Is the plasma uridine level a marker of the overproduction of the uric acid? Metabolism 1997, 46:801–804.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ghei, M., Mihailescu, M. & Levinson, D. Pathogenesis of hyperuricemia: Recent advances. Curr Rheumatol Rep 4, 270–274 (2002). https://doi.org/10.1007/s11926-002-0076-z
Issue Date:
DOI: https://doi.org/10.1007/s11926-002-0076-z