Skip to main content
SpringerLink
Log in

Renal Manifestations of Metabolic Disorders in Children

Pediatric Nephrology

  • 338 Accesses

Abstract

While the majority of children with renal dysfunction have a structural, immunological, or infective disorder, some have a metabolic defect arising from an abnormality in the biochemical pathways of cell metabolism. Moreover, improved survival of patients with metabolic disorders has uncovered in many cases symptoms secondary to chronic renal lesions that were not apparent when these diseases where first described (e.g., methylmalonic acidemia). Conversely, extrarenal manifestations have become apparent in other patients with metabolic diseases that during childhood manifest primarily with isolated renal or urological symptoms (e.g., nephropathic cystinosis). Pediatric nephrologists should always remain vigilant to the possibility of a metabolic disorder, especially when children have extrarenal symptoms.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  1. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006;142C(2):104–12.

    CAS  PubMed  Google Scholar 

  2. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Valle D, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM, et al, editors. The online metabolic and molecular bases of inherited disease. New York: McGraw-Hill.

    Google Scholar 

  3. Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008;358(14):1454–64.

    CAS  PubMed  Google Scholar 

  4. Horster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, et al. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009;32(5):630–9.

    CAS  PubMed  Google Scholar 

  5. Cosson MA, Benoist JF, Touati G, Dechaux M, Royer N, Grandin L, et al. Long-term outcome in methylmalonic aciduria: a series of 30 French patients. Mol Genet Metab. 2009;97(3):172–8.

    CAS  PubMed  Google Scholar 

  6. O’Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, et al. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics. 2012;129(6):e1541–51.

    PubMed Central  PubMed  Google Scholar 

  7. D’Angio CT, Dillon MJ, Leonard JV. Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr. 1991;150(4):259–63.

    PubMed  Google Scholar 

  8. Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr. 1989;148(4):344–8.

    CAS  PubMed  Google Scholar 

  9. Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007;62(2):225–30.

    PubMed  Google Scholar 

  10. Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr. 2011;93(1):47–56.

    PubMed Central  CAS  PubMed  Google Scholar 

  11. van’t Hoff W, McKiernan PJ, Surtees RA, Leonard JV. Liver transplantation for methylmalonic acidaemia. Eur J Pediatr. 1999;158 Suppl 2:S70–4.

    Google Scholar 

  12. Kruszka PS, Manoli I, Sloan JL, Kopp JB, Venditti CP. Renal growth in isolated methylmalonic acidemia. Genet Med. 2013;15(12):990–6.

    PubMed Central  CAS  PubMed  Google Scholar 

  13. Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, et al. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J. 2009;23(4):1252–61.

    PubMed Central  CAS  PubMed  Google Scholar 

  14. Zsengeller ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, et al. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014;29:2139–46.

    PubMed  Google Scholar 

  15. Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, et al. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A. 2013;110(33):13552–7.

    PubMed Central  CAS  PubMed  Google Scholar 

  16. Morath MA, Okun JG, Muller IB, Sauer SW, Horster F, Hoffmann GF, et al. Neurodegeneration and chronic renal failure in methylmalonic aciduria–a pathophysiological approach. J Inherit Metab Dis. 2008;31(1):35–43.

    CAS  PubMed  Google Scholar 

  17. Melo DR, Mirandola SR, Assuncao NA, Castilho RF. Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates: involvement of mitochondrial glutamate metabolism. J Neurosci Res. 2012;90(6):1190–9.

    CAS  PubMed  Google Scholar 

  18. Schmitt CP, Mehls O, Trefz FK, Horster F, Weber TL, Kolker S. Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol. 2004;19(10):1182–4.

    PubMed  Google Scholar 

  19. van ’t Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, et al. Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr. 1998;132(6):1043–4.

    Google Scholar 

  20. Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, et al. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut methylmalonic acidemia. J Inherit Metab Dis. 2014;37:899–907.

    PubMed Central  PubMed  Google Scholar 

  21. Kolker S, Sauer SW, Surtees RA, Leonard JV. The aetiology of neurological complications of organic acidaemias–a role for the blood–brain barrier. J Inherit Metab Dis. 2006;29(6):701–4; discussion 5–6.

    CAS  PubMed  Google Scholar 

  22. Kasahara M, Horikawa R, Tagawa M, Uemoto S, Yokoyama S, Shibata Y, et al. Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr Transplant. 2006;10(8):943–7.

    PubMed  Google Scholar 

  23. Kamei K, Ito S, Shigeta T, Sakamoto S, Fukuda A, Horikawa R, et al. Preoperative dialysis for liver transplantation in methylmalonic acidemia. Ther Apher Dial. 2011;15(5):488–92.

    PubMed  Google Scholar 

  24. Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A. Efficacy of living donor liver transplantation for patients with methylmalonic acidemia. Am J Transplant. 2007;7(12):2782–7.

    CAS  PubMed  Google Scholar 

  25. Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, et al. Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. Mol Genet Metab. 2013;110(1–2):106–10.

    CAS  PubMed  Google Scholar 

  26. Clothier JC, Chakrapani A, Preece MA, McKiernan P, Gupta R, Macdonald A, et al. Renal transplantation in a boy with methylmalonic acidaemia. J Inherit Metab Dis. 2011;34(3):695–700.

    PubMed  Google Scholar 

  27. Coman D, Huang J, McTaggart S, Sakamoto O, Ohura T, McGill J, et al. Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatr Nephrol. 2006;21(2):270–3.

    CAS  PubMed  Google Scholar 

  28. Lubrano R, Elli M, Rossi M, Travasso E, Raggi C, Barsotti P, et al. Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. Pediatr Nephrol. 2007;22(8):1209–14.

    PubMed  Google Scholar 

  29. Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee R, Sollinger H, et al. Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis. 1998;21(7):729–37.

    PubMed  Google Scholar 

  30. Lubrano R, Bellelli E, Gentile I, Paoli S, Carducci C, Carducci C, et al. Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. Am J Transplant. 2013;13(7):1918–22.

    CAS  PubMed  Google Scholar 

  31. Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62–81.

    Google Scholar 

  32. Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis. 2014;37:831–40.

    CAS  PubMed  Google Scholar 

  33. Komhoff M, Roofthooft MT, Westra D, Teertstra TK, Losito A, van de Kar NC, et al. Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. Pediatrics. 2013;132(2):e540–4.

    PubMed  Google Scholar 

  34. Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab. 2006;88(4):315–21.

    CAS  PubMed  Google Scholar 

  35. Labrune P, Zittoun J, Duvaltier I, Trioche P, Marquet J, Niaudet P, et al. Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency. Eur J Pediatr. 1999;158(9):734–9.

    CAS  PubMed  Google Scholar 

  36. Iodice FG, Di Chiara L, Boenzi S, Aiello C, Monti L, Cogo P, et al. Cobalamin C defect presenting with isolated pulmonary hypertension. Pediatrics. 2013;132(1):e248–51.

    PubMed  Google Scholar 

  37. Menni F, Testa S, Guez S, Chiarelli G, Alberti L, Esposito S. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. Pediatr Nephrol. 2012;27(8):1401–5.

    PubMed  Google Scholar 

  38. Brunelli SM, Meyers KE, Guttenberg M, Kaplan P, Kaplan BS. Cobalamin C deficiency complicated by an atypical glomerulopathy. Pediatr Nephrol. 2002;17(10):800–3.

    PubMed  Google Scholar 

  39. Martinelli D, Deodato F, Dionisi-Vici C. Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis. 2011;34(1):127–35.

    CAS  PubMed  Google Scholar 

  40. Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, et al. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab. 2008;93(4):475–80.

    CAS  PubMed  Google Scholar 

  41. Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, et al. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. Am J Kidney Dis. 2014;63(1):119–23.

    CAS  PubMed  Google Scholar 

  42. Verroust PJ, Birn H, Nielsen R, Kozyraki R, Christensen EI. The tandem endocytic receptors megalin and cubilin are important proteins in renal pathology. Kidney Int. 2002;62(3):745–56.

    CAS  PubMed  Google Scholar 

  43. Storm T, Emma F, Verroust PJ, Hertz JM, Nielsen R, Christensen EI. A patient with cubilin deficiency. N Engl J Med. 2011;364(1):89–91.

    CAS  PubMed  Google Scholar 

  44. Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, et al. Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome. BMC Med Genet. 2013;14:111.

    PubMed Central  CAS  PubMed  Google Scholar 

  45. Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1:17.

    PubMed Central  PubMed  Google Scholar 

  46. Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis. 2011;6:27.

    PubMed Central  PubMed  Google Scholar 

  47. Weinstein DA, Wolfsdorf JI. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr. 2002;161 Suppl 1:S35–9.

    CAS  PubMed  Google Scholar 

  48. Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med. 1988;318(1):7–11.

    CAS  PubMed  Google Scholar 

  49. Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA, Egler J, et al. Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int. 1989;35(6):1345–50.

    CAS  PubMed  Google Scholar 

  50. Martens DH, Rake JP, Navis G, Fidler V, van Dael CM, Smit GP. Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin J Am Soc Nephrol. 2009;4(11):1741–6.

    PubMed Central  PubMed  Google Scholar 

  51. Oktenli C. Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II. Am J Nephrol. 2000;20(5):412–7.

    CAS  PubMed  Google Scholar 

  52. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP, et al. Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002;161 Suppl 1:S112–9.

    PubMed  Google Scholar 

  53. Restaino I, Kaplan BS, Stanley C, Baker L. Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr. 1993;122(3):392–6.

    CAS  PubMed  Google Scholar 

  54. Pozzato C, Botta A, Melgara C, Fiori L, Gianni ML, Riva E. Sonographic findings in type I glycogen storage disease. J Clin Ultrasound. 2001;29(8):456–61.

    CAS  PubMed  Google Scholar 

  55. Reitsma-Bierens WC, Smit GP, Troelstra JA. Renal function and kidney size in glycogen storage disease type I. Pediatr Nephrol. 1992;6(3):236–8.

    CAS  PubMed  Google Scholar 

  56. Mundy HR, Lee PJ. Glycogenosis type I and diabetes mellitus: a common mechanism for renal dysfunction? Med Hypotheses. 2002;59(1):110–4.

    CAS  PubMed  Google Scholar 

  57. Yiu WH, Mead PA, Jun HS, Mansfield BC, Chou JY. Oxidative stress mediates nephropathy in type Ia glycogen storage disease. Lab Invest. 2010;90(4):620–9.

    PubMed Central  CAS  PubMed  Google Scholar 

  58. Yiu WH, Pan CJ, Ruef RA, Peng WT, Starost MF, Mansfield BC, et al. Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia. Kidney Int. 2008;73(6):716–23.

    PubMed Central  CAS  PubMed  Google Scholar 

  59. Clar J, Gri B, Calderaro J, Birling MC, Herault Y, Smit GP, et al. Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy. Kidney Int. 2014;86:747–56.

    CAS  PubMed  Google Scholar 

  60. Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV. Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol. 1995;9(6):705–10.

    CAS  PubMed  Google Scholar 

  61. Verani R, Bernstein J. Renal glomerular and tubular abnormalities in glycogen storage disease type I. Arch Pathol Lab Med. 1988;112(3):271–4.

    CAS  PubMed  Google Scholar 

  62. Yokoyama K, Hayashi H, Hinoshita F, Yamada A, Suzuki Y, Ogura Y, et al. Renal lesion of type Ia glycogen storage disease: the glomerular size and renal localization of apolipoprotein. Nephron. 1995;70(3):348–52.

    CAS  PubMed  Google Scholar 

  63. Martin AP, Bartels M, Schreiber S, Buehrdel P, Hauss J, Fangmann J. Successful staged kidney and liver transplantation for glycogen storage disease type Ib: a case report. Transplant Proc. 2006;38(10):3615–9.

    CAS  PubMed  Google Scholar 

  64. Maya Aparicio AC, Bernal Bellido C, Tinoco Gonzalez J, Garcia Ruiz S, Aguilar Romero L, Marin Gomez LM, et al. Fifteen years of follow-up of a liver transplant recipient with glycogen storage disease type Ia (Von Gierke disease). Transplant Proc. 2013;45(10):3668–9.

    CAS  PubMed  Google Scholar 

  65. Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, et al. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab. 2012;97(10):E1978–86.

    PubMed Central  CAS  PubMed  Google Scholar 

  66. Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, Gescholl-Bauer B, et al. Fanconi-Bickel syndrome. Pediatr Nephrol. 1987;1(3):509–18.

    CAS  PubMed  Google Scholar 

  67. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet. 1997;17(3):324–6.

    CAS  PubMed  Google Scholar 

  68. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J. Fanconi-Bickel syndrome–a congenital defect of the liver-type facilitative glucose transporter. J Inherit Metab Dis. 1998;21(3):191–4.

    CAS  PubMed  Google Scholar 

  69. Grunert SC, Schwab KO, Pohl M, Sass JO, Santer R. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab. 2012;105(3):433–7.

    PubMed  Google Scholar 

  70. Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab. 2009;296(5):E985–92.

    CAS  PubMed  Google Scholar 

  71. Santer R, Calado J. Familial renal glucosuria and SGLT2: from a Mendelian trait to a therapeutic target. Clin J Am Soc Nephrol. 2010;5(1):133–41.

    CAS  PubMed  Google Scholar 

  72. Michau A, Guillemain G, Grosfeld A, Vuillaumier-Barrot S, Grand T, Keck M, et al. Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic beta cell development. J Biol Chem. 2013;288(43):31080–92.

    PubMed Central  CAS  PubMed  Google Scholar 

  73. Sansbury FH, Flanagan SE, Houghton JA, Shuixian Shen FL, Al-Senani AM, Habeb AM, et al. SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia. 2012;55(9):2381–5.

    CAS  PubMed  Google Scholar 

  74. Berry GT, Baynes JW, Wells-Knecht KJ, Szwergold BS, Santer R. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab. 2005;86(4):473–7.

    CAS  PubMed  Google Scholar 

  75. Kedzierska K, Kwiatkowski S, Torbe A, Marchelek-Mysliwiec M, Marcinkiewicz O, Bobrek-Lesiakowska K, et al. Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. Am J Med Genet A. 2011;155A(8):2028–30.

    PubMed  Google Scholar 

  76. Pena L, Charrow J. Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. Am J Med Genet A. 2011;155A(2):415–7.

    PubMed  Google Scholar 

  77. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656–68.

    CAS  PubMed  Google Scholar 

  78. Emma F, Bertini E, Salviati L, Montini G. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol. 2012;27(4):539–50.

    PubMed Central  PubMed  Google Scholar 

  79. Niaudet P, Rotig A. The kidney in mitochondrial cytopathies. Kidney Int. 1997;51(4):1000–7.

    CAS  PubMed  Google Scholar 

  80. Emma F, Montini G, Salviati L, Dionisi-Vici C. Renal mitochondrial cytopathies. Int J Nephrol. 2011;2011:609213.

    PubMed Central  PubMed  Google Scholar 

  81. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, et al. Hair and skin disorders as signs of mitochondrial disease. Pediatrics. 1999;103(2):428–33.

    CAS  PubMed  Google Scholar 

  82. Martin-Hernandez E, Garcia-Silva MT, Vara J, Campos Y, Cabello A, Muley R, et al. Renal pathology in children with mitochondrial diseases. Pediatr Nephrol. 2005;20(9):1299–305.

    PubMed  Google Scholar 

  83. Au KM, Lau SC, Mak YF, Lai WM, Chow TC, Chen ML, et al. Mitochondrial DNA deletion in a girl with Fanconi’s syndrome. Pediatr Nephrol. 2007;22(1):136–40.

    PubMed  Google Scholar 

  84. Kuwertz-Broking E, Koch HG, Marquardt T, Rossi R, Helmchen U, Muller-Hocker J, et al. Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. Pediatr Nephrol. 2000;14(6):495–8.

    CAS  PubMed  Google Scholar 

  85. Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, et al. Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol. 1996;46(5):347–52.

    CAS  PubMed  Google Scholar 

  86. Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol. 1995;9(4):407–11.

    CAS  PubMed  Google Scholar 

  87. De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet A. 2003;121A(2):126–31.

    PubMed  Google Scholar 

  88. Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009;84(5):558–66.

    PubMed Central  CAS  PubMed  Google Scholar 

  89. Gilbert RD, Emms M. Pearson’s syndrome presenting with Fanconi syndrome. Ultrastruct Pathol. 1996;20(5):473–5.

    CAS  PubMed  Google Scholar 

  90. Lee YS, Yap HK, Barshop BA, Lee YS, Rajalingam S, Loke KY. Mitochondrial tubulopathy: the many faces of mitochondrial disorders. Pediatr Nephrol. 2001;16(9):710–2.

    CAS  PubMed  Google Scholar 

  91. Liu HM, Tsai LP, Chien YH, Wu JF, Weng WC, Peng SF, et al. A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child. Pediatr Neonatol. 2012;53(4):264–8.

    PubMed  Google Scholar 

  92. Mori K, Narahara K, Ninomiya S, Goto Y, Nonaka I. Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. Am J Med Genet. 1991;38(4):583–7.

    CAS  PubMed  Google Scholar 

  93. Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol. 1994;8(2):164–8.

    CAS  PubMed  Google Scholar 

  94. O’Toole JF. Renal manifestations of genetic mitochondrial disease. Int J Nephrol Renovasc Dis. 2014;7:57–67.

    PubMed Central  PubMed  Google Scholar 

  95. Ogier H, Lombes A, Scholte HR, Poll-The BT, Fardeau M, Alcardi J, et al. de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J Pediatr. 1988;112(5):734–9.

    CAS  PubMed  Google Scholar 

  96. Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, et al. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA). Klin Monbl Augenheilkd. 2007;224(4):340–3.

    CAS  PubMed  Google Scholar 

  97. Topaloglu R, Lebre AS, Demirkaya E, Kuskonmaz B, Coskun T, Orhan D, et al. Two new cases with Pearson syndrome and review of Hacettepe experience. Turk J Pediatr. 2008;50(6):572–6.

    PubMed  Google Scholar 

  98. Tzoufi M, Makis A, Chaliasos N, Nakou I, Siomou E, Tsatsoulis A, et al. A rare case report of simultaneous presentation of myopathy, Addison’s disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. Eur J Pediatr. 2013;172(4):557–61.

    PubMed  Google Scholar 

  99. Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, et al. “Bartter-like” phenotype in Kearns-Sayre syndrome. Pediatr Nephrol. 2006;21(3):355–60.

    PubMed  Google Scholar 

  100. Eviatar L, Shanske S, Gauthier B, Abrams C, Maytal J, Slavin M, et al. Kearns-Sayre syndrome presenting as renal tubular acidosis. Neurology. 1990;40(11):1761–3.

    CAS  PubMed  Google Scholar 

  101. Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J Pediatr. 1990;116(6):904–10.

    CAS  PubMed  Google Scholar 

  102. Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am J Nephrol. 2001;21(2):150–3.

    CAS  PubMed  Google Scholar 

  103. Matsutani H, Mizusawa Y, Shimoda M, Niimura F, Takeda A, Shimohira M, et al. Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. Child Nephrol Urol. 1992;12(4):221–4.

    CAS  PubMed  Google Scholar 

  104. Di Donato S. Multisystem manifestations of mitochondrial disorders. J Neurol. 2009;256(5):693–710.

    PubMed  Google Scholar 

  105. Guery B, Choukroun G, Noel LH, Clavel P, Rotig A, Lebon S, et al. The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. J Am Soc Nephrol. 2003;14(8):2099–108.

    CAS  PubMed  Google Scholar 

  106. Cheong HI, Chae JH, Kim JS, Park HW, Ha IS, Hwang YS, et al. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation. Pediatr Nephrol. 1999;13(6):477–80.

    CAS  PubMed  Google Scholar 

  107. Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, et al. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int. 2000;58(5):1851–8.

    CAS  PubMed  Google Scholar 

  108. Hirano M, Konishi K, Arata N, Iyori M, Saruta T, Kuramochi S, et al. Renal complications in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA. Intern Med. 2002;41(2):113–8.

    PubMed  Google Scholar 

  109. Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int. 2001;59(4):1236–43.

    CAS  PubMed  Google Scholar 

  110. Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t’ Hart LM, et al. Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease. J Am Soc Nephrol. 1997;8(7):1118–24.

    CAS  PubMed  Google Scholar 

  111. Kurogouchi F, Oguchi T, Mawatari E, Yamaura S, Hora K, Takei M, et al. A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol. 1998;18(6):551–6.

    CAS  PubMed  Google Scholar 

  112. Lowik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP. Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2005;20(2):336–41.

    CAS  PubMed  Google Scholar 

  113. Nakamura S, Yoshinari M, Doi Y, Yoshizumi H, Katafuchi R, Yokomizo Y, et al. Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA. Diabetes Res Clin Pract. 1999;44(3):183–9.

    CAS  PubMed  Google Scholar 

  114. Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, et al. Renal involvement in MELAS syndrome – a series of 5 cases and review of the literature. Clin Nephrol. 2013;80(6):456–63.

    PubMed  Google Scholar 

  115. Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet. 2000;356(9227):391–5.

    CAS  PubMed  Google Scholar 

  116. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology. 2005;65(4):606–8.

    CAS  PubMed  Google Scholar 

  117. Montini G, Malaventura C, Salviati L. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med. 2008;358(26):2849–50.

    CAS  PubMed  Google Scholar 

  118. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006;78(2):345–9.

    PubMed Central  CAS  PubMed  Google Scholar 

  119. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007;18(10):2773–80.

    CAS  PubMed  Google Scholar 

  120. Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007;117(3):765–72.

    PubMed Central  CAS  PubMed  Google Scholar 

  121. Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, et al. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J Paediatr Neurol. 2013;17(6):625–30.

    PubMed  Google Scholar 

  122. Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006;79(6):1125–9.

    PubMed Central  CAS  PubMed  Google Scholar 

  123. Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011;121(5):2013–24.

    PubMed Central  CAS  PubMed  Google Scholar 

  124. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013;123(12):5179–89.

    PubMed Central  CAS  PubMed  Google Scholar 

  125. Freeze HH. Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem. 2013;288(10):6936–45.

    PubMed Central  CAS  PubMed  Google Scholar 

  126. Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014;37(4):609–17.

    CAS  PubMed  Google Scholar 

  127. Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: time for a change! Biochim Biophys Acta. 2009;1792(9):825–6.

    PubMed Central  CAS  PubMed  Google Scholar 

  128. Jaeken J, Matthijs G, Carchon H, Van Schaftingen E. Defects of N-Glycan synthesis. In: Valle D, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson KM, et al., editors. The online metabolic and molecular bases of inherited disease. New York: McGraw-Hill.

    Google Scholar 

  129. Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014;94(2):161–75.

    PubMed Central  CAS  PubMed  Google Scholar 

  130. Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child. 1991;66(9):1027–32.

    PubMed Central  CAS  PubMed  Google Scholar 

  131. Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, et al. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A. 2013;161A(3):578–84.

    PubMed  Google Scholar 

  132. Hertz-Pannier L, Dechaux M, Sinico M, Emond S, Cormier-Daire V, Saudubray JM, et al. Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes. Pediatr Radiol. 2006;36(2):108–14.

    PubMed  Google Scholar 

  133. Strom EH, Stromme P, Westvik J, Pedersen SJ. Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatr Nephrol. 1993;7(3):253–5.

    CAS  PubMed  Google Scholar 

  134. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001;38(1):14–9.

    PubMed Central  PubMed  Google Scholar 

  135. van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA. Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis. 1996;19(6):787–91.

    PubMed  Google Scholar 

  136. Sinha MD, Horsfield C, Komaromy D, Booth CJ, Champion MP. Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. Nephrol Dial Transplant. 2009;24(8):2591–4.

    CAS  PubMed  Google Scholar 

  137. Bobulescu IA, Moe OW. Renal transport of uric acid: evolving concepts and uncertainties. Adv Chronic Kidney Dis. 2012;19(6):358–71.

    PubMed Central  PubMed  Google Scholar 

  138. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature. 2002;417(6887):447–52.

    CAS  PubMed  Google Scholar 

  139. Li S, Sanna S, Maschio A, Busonero F, Usala G, Mulas A, et al. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 2007;3(11):e194.

    PubMed Central  PubMed  Google Scholar 

  140. Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol. 1993;7(1):105–18.

    CAS  PubMed  Google Scholar 

  141. Stapleton FB, Linshaw MA, Hassanein K, Gruskin AB. Uric acid excretion in normal children. J Pediatr. 1978;92(6):911–4.

    CAS  PubMed  Google Scholar 

  142. Calabrese G, Simmonds HA, Cameron JS, Davies PM. Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. Q J Med. 1990;75(277):441–50.

    CAS  PubMed  Google Scholar 

  143. Sikora P, Pijanowska M, Majewski M, Bienias B, Borzecka H, Zajczkowska M. Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. Pediatr Nephrol. 2006;21(7):1045–7.

    PubMed  Google Scholar 

  144. Pela I, Donati MA, Procopio E, Fiorini P. Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. Pediatr Nephrol. 2008;23(1):155–8.

    PubMed  Google Scholar 

  145. Simmonds HA, Cameron JS, Barratt TM, Dillon MJ, Meadow SR, Trompeter RS. Purine enzyme defects as a cause of acute renal failure in childhood. Pediatr Nephrol. 1989;3(4):433–7.

    CAS  PubMed  Google Scholar 

  146. Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007;2:48.

    PubMed Central  PubMed  Google Scholar 

  147. Rinat C, Zoref-Shani E, Ben-Neriah Z, Bromberg Y, Becker-Cohen R, Feinstein S, et al. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab. 2006;87(3):249–52.

    CAS  PubMed  Google Scholar 

  148. Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, et al. Nephrolithiasis related to inborn metabolic diseases. Pediatr Nephrol. 2010;25(3):415–24.

    PubMed Central  PubMed  Google Scholar 

  149. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000;32(2–3):449–75.

    CAS  PubMed  Google Scholar 

  150. Kaufman JM, Greene ML, Seegmiller JE. Urine uric acid to creatinine rtio–a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. J Pediatr. 1968;73(4):583–92.

    CAS  PubMed  Google Scholar 

  151. Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, et al. Attenuated variants of Lesch-Nyhan disease. Brain J Neurol. 2010;133(Pt 3):671–89.

    CAS  Google Scholar 

  152. George RL, Keenan RT. Genetics of hyperuricemia and gout: implications for the present and future. Curr Rheumatol Rep. 2013;15(2):309.

    PubMed  Google Scholar 

  153. Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain J Neurol. 2014;137(Pt 5):1282–303.

    Google Scholar 

  154. Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J Clin Invest. 1995;96(5):2133–41.

    PubMed Central  CAS  PubMed  Google Scholar 

  155. Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am J Med. 1988;85(3):383–90.

    CAS  PubMed  Google Scholar 

  156. Engle SJ, Stockelman MG, Chen J, Boivin G, Yum MN, Davies PM, et al. Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci U S A. 1996;93(11):5307–12.

    PubMed Central  CAS  PubMed  Google Scholar 

  157. Fujimori S, Akaoka I, Sakamoto K, Yamanaka H, Nishioka K, Kamatani N. Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Hum Genet. 1985;71(2):171–6.

    CAS  PubMed  Google Scholar 

  158. Marra G, Vercelloni PG, Edefonti A, Manzoni G, Pavesi MA, Fogazzi GB, et al. Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure. JIMD Rep. 2012;5:45–8.

    PubMed Central  PubMed  Google Scholar 

  159. Ichida K, Hosoyamada M, Kamatani N, Kamitsuji S, Hisatome I, Shibasaki T, et al. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. Clin Genet. 2008;74(3):243–51.

    CAS  PubMed  Google Scholar 

  160. Doring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, et al. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet. 2008;40(4):430–6.

    PubMed  Google Scholar 

  161. Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet. 2008;83(6):744–51.

    PubMed Central  CAS  PubMed  Google Scholar 

  162. Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet. 2008;40(4):437–42.

    CAS  PubMed  Google Scholar 

  163. Wallace C, Newhouse SJ, Braund P, Zhang F, Tobin M, Falchi M, et al. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet. 2008;82(1):139–49.

    PubMed Central  CAS  PubMed  Google Scholar 

  164. Moro F, Ogg CS, Simmonds HA, Cameron JS, Chantler C, McBride MB, et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol. 1991;35(6):263–9.

    CAS  PubMed  Google Scholar 

  165. Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011;80(4):338–47.

    CAS  PubMed  Google Scholar 

  166. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39(12):882–92.

    PubMed Central  CAS  PubMed  Google Scholar 

  167. Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, et al. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med. 2013;19(12):1655–60.

    CAS  PubMed  Google Scholar 

  168. Bachmann S, Metzger R, Bunnemann B. Tamm-Horsfall protein-mRNA synthesis is localized to the thick ascending limb of Henle’s loop in rat kidney. Histochemistry. 1990;94(5):517–23.

    CAS  PubMed  Google Scholar 

  169. Bachmann S, Koeppen-Hagemann I, Kriz W. Ultrastructural localization of Tamm-Horsfall glycoprotein (THP) in rat kidney as revealed by protein A-gold immunocytochemistry. Histochemistry. 1985;83(6):531–8.

    CAS  PubMed  Google Scholar 

  170. Bleyer AJ, Hart TC. Familial juvenile hyperuricaemic nephropathy. QJM. 2003;96(11):867–8.

    CAS  PubMed  Google Scholar 

  171. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol. 2003;14(11):2883–93.

    CAS  PubMed  Google Scholar 

  172. Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clinical journal of the American Society of Nephrology : CJASN. 2011;6(10):2429–38.

    Google Scholar 

  173. Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SP, Rees L, Van THW, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM. 2002;95(9):597–607.

    CAS  PubMed  Google Scholar 

  174. Labriola L, in Dahan K, Pirson Y. Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy. Nephrol Dial Transplant. 2007;22(10):3070–3.

    PubMed  Google Scholar 

  175. Bingham C, Ellard S, van’t Hoff WG, Simmonds HA, Marinaki AM, Badman MK, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int. 2003;63(5):1645–51.

    CAS  PubMed  Google Scholar 

  176. Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010;5(6):1079–90.

    PubMed Central  CAS  PubMed  Google Scholar 

  177. Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet’al P, Kalbacova M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85(2):204–13.

    PubMed Central  CAS  PubMed  Google Scholar 

  178. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.

    PubMed Central  PubMed  Google Scholar 

  179. Grunfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis. 2001;24 Suppl 2:71–4; discussion 65.

    PubMed  Google Scholar 

  180. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31–40.

    PubMed Central  CAS  PubMed  Google Scholar 

  181. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. Clin Chim Acta. 1981;112(2):247–51.

    CAS  PubMed  Google Scholar 

  182. Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta. 2005;353(1–2):201–3.

    CAS  PubMed  Google Scholar 

  183. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34–45.

    CAS  PubMed  Google Scholar 

  184. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112–28.

    CAS  PubMed  Google Scholar 

  185. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64(5):550–5.

    PubMed  Google Scholar 

  186. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30(2):184–92.

    CAS  PubMed  Google Scholar 

  187. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366(9499):1794–6.

    PubMed  Google Scholar 

  188. Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008;51(5):767–76.

    PubMed  Google Scholar 

  189. Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int. 1978;13(3):223–35.

    CAS  PubMed  Google Scholar 

  190. Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG. Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol. 2010;5(2):365–70.

    PubMed  Google Scholar 

  191. Schiffmann R. Natural history of Fabry disease in males: preliminary observations. J Inherit Metab Dis. 2001;24 Suppl 2:15–7; discussion 1–2.

    PubMed  Google Scholar 

  192. Sessa A, Meroni M, Battini G, Maglio A, Brambilla PL, Bertella M, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:66–70; discussion 65.

    PubMed  Google Scholar 

  193. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009;24(7):2102–11.

    PubMed Central  PubMed  Google Scholar 

  194. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009;11(11):790–6.

    PubMed  Google Scholar 

  195. Mignani R, Feriozzi S, Schaefer RM, Breunig F, Oliveira JP, Ruggenenti P, et al. Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy. Clin J Am Soc Nephrol. 2010;5(2):379–85.

    PubMed  Google Scholar 

  196. Ries M, Bettis KE, Choyke P, Kopp JB, Austin 3rd HA, Brady RO, et al. Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int. 2004;66(3):978–82.

    PubMed  Google Scholar 

  197. Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61(1):249–55.

    PubMed  Google Scholar 

  198. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5(12):2220–8.

    PubMed Central  PubMed  Google Scholar 

  199. Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. 2012;107(3):267–75.

    CAS  PubMed  Google Scholar 

  200. Wang RY, Bodamer OA, Watson MS, Wilcox WR, Diseases AWGoDCoLS. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011;13(5):457–84.

    PubMed  Google Scholar 

  201. Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27(3):1042–9.

    PubMed Central  CAS  PubMed  Google Scholar 

  202. de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013;8:8.

    PubMed Central  PubMed  Google Scholar 

  203. Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F. A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. J Am Soc Nephrol. 2000;11(2):291–300.

    CAS  PubMed  Google Scholar 

  204. Spencer PD, Roth KS. Effects of succinylacetone on amino acid uptake in the rat kidney. Biochem Med Metab Biol. 1987;37(1):101–9.

    CAS  PubMed  Google Scholar 

  205. Santra S, Preece MA, Hulton SA, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis. 2008;31(3):399–402.

    CAS  PubMed  Google Scholar 

  206. Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, et al. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis. 2008;31(1):81–7.

    CAS  PubMed  Google Scholar 

  207. Larochelle J, Alvarez F, Bussieres JF, Chevalier I, Dallaire L, Dubois J, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab. 2012;107(1–2):49–54.

    CAS  PubMed  Google Scholar 

  208. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992;340(8823):813–7.

    CAS  PubMed  Google Scholar 

  209. Gjone E. Familial lecithin: cholesterol acyltransferase deficiency–a clinical survey. Scand J Clin Lab Invest Suppl. 1974;137:73–82.

    CAS  PubMed  Google Scholar 

  210. Imbasciati E, Paties C, Scarpioni L, Mihatsch MJ. Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. Am J Nephrol. 1986;6(1):66–70.

    CAS  PubMed  Google Scholar 

  211. Hirashio S, Ueno T, Naito T, Masaki T. Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency. Clin Exp Nephrol. 2014;18(2):189–93.

    CAS  PubMed  Google Scholar 

  212. Sebastio G, Sperandeo MP, Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011;157C(1):54–62.

    PubMed  Google Scholar 

  213. Tanner LM, Nanto-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, et al. Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. J Pediatr. 2007;150(6):631–4, 4 e1.

    PubMed  Google Scholar 

  214. Tanner LM, Nanto-Salonen K, Venetoklis J, Kotilainen S, Niinikoski H, Huoponen K, et al. Nutrient intake in lysinuric protein intolerance. J Inherit Metab Dis. 2007;30(5):716–21.

    CAS  PubMed  Google Scholar 

  215. DiRocco M, Garibotto G, Rossi GA, Caruso U, Taccone A, Picco P, et al. Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr. 1993;152(5):437–40.

    CAS  PubMed  Google Scholar 

  216. Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, et al. Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course. J Pediatr. 1995;126(2):246–51.

    CAS  PubMed  Google Scholar 

  217. Benninga MA, Lilien M, de Koning TJ, Duran M, Versteegh FG, Goldschmeding R, et al. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. J Inherit Metab Dis. 2007;30(3):402–3.

    CAS  PubMed  Google Scholar 

  218. Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, et al. Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. Mol Genet Metab. 2012;105(4):585–9.

    CAS  PubMed  Google Scholar 

  219. Mannucci L, Emma F, Markert M, Bachmann C, Boulat O, Carrozzo R, et al. Increased NO production in lysinuric protein intolerance. J Inherit Metab Dis. 2005;28(2):123–9.

    CAS  PubMed  Google Scholar 

  220. Ogier de Baulny H, Schiff M, Dionisi-Vici C. Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. Mol Genet Metab. 2012;106(1):12–7.

    CAS  PubMed  Google Scholar 

  221. Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Kadija Z, et al. In lysinuric protein intolerance system y + L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Orphanet J Rare Dis. 2010;5:32.

    PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Nephrology, Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy

    Francesco Emma

  2. Great Ormond Street Hospital, London, UK

    William G. van’t Hoff

  3. Division of Metabolic Diseases, Bambino Gesù Children’s Hospital – IRCCS, Piazza Sant’Onofrio, Rome, Italy

    Carlo Dionisi Vici

Authors
  1. Francesco Emma
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. William G. van’t Hoff
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Carlo Dionisi Vici
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Francesco Emma .

Editor information

Editors and Affiliations

  1. Children's Hospital of Wisconsin Children's Research Institute, Milwaukee, Wisconsin, USA

    Ellis D. Avner

  2. Harvard Medical School Children's Hospital Boston, Boston, Massachusetts, USA

    William E. Harmon

  3. Hôpital Necker Enfants Malades Dept. Néphrologie Pédiatrique, Paris, France

    Patrick Niaudet

  4. Wakayama Medical University Dept. Pediatrics, Wakayama City, Japan

    Norishige Yoshikawa

  5. Department of Nephrology and Urology Division of Nephrology, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy

    Francesco Emma

  6. Division of Nephrology and Hypertension The Heart Institute, University of Cincinnati Cincinnati Children’s Hospital Medical C, Cincinnati, Ohio, USA

    Stuart Goldstein

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this entry

Cite this entry

Emma, F., van’t Hoff, W.G., Dionisi Vici, C. (2014). Renal Manifestations of Metabolic Disorders in Children. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N., Emma, F., Goldstein, S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27843-3_46-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-27843-3_46-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-27843-3

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Chapter history

  1. Latest

    Renal Manifestations of Metabolic Disorders in Children
    Published:
    17 September 2021

    DOI: https://doi.org/10.1007/978-3-642-27843-3_46-2

  2. Original

    Renal Manifestations of Metabolic Disorders in Children
    Published:
    12 December 2014

    DOI: https://doi.org/10.1007/978-3-642-27843-3_46-1

Search

Navigation