Seminars in Nephrology
Volume 25, Issue 1 , Pages 9-18 , January 2005

Hereditary hyperuricemia and renal disease

  • J. Stewart Cameron

      Affiliations

    • Purine Research Unit and the Renal Unit, Guy’s Hospital, King’s College, London, United Kingdom
    • Corresponding Author InformationAddress reprint requests to Professor J. Stewart Cameron, Elm Bank, Melmerby, Cumbria CA10 1HB, United Kingdom.
    • ,
  • H. Anne Simmonds

      Affiliations

    • Purine Research Unit and the Renal Unit, Guy’s Hospital, King’s College, London, United Kingdom

References 

  1. Gibson T , Waterworth P , Hatfield P , et al.   Hyperuricaemia, gout and kidney function in young New Zealand Maori men . Br J Rheumatol . 1984;23:276–282
  2. Simmonds HA , McBride MB , Hatfield PJ , et al.   Polynesian women are also at risk for hyperuricaemia and gout because of a defect in renal urate handling . Br J Rheumatol . 1994;33:932–937
  3. Short EG . Gout and hyperuricemia . In:  King RA ,  Rutter JI ,  Mitulsky G editor. The Genetic Basis of Common Diseases . Oxford: Oxford University Press; 1992;p. 482–506
  4. Emmerson BT , Nagel SL , Duffy DL , et al.   Genetic control of the renal clearance of urate (A study of twins) . Ann Rheum Dis . 1992;51:375–377
  5. Watts RWE . Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism, the Lesch-Nyhan syndrome . Adv Enzyme Regul . 1985;23:25–58
  6. Jinnah HA , Friedmann T . Lesch-Nyhan disease and its variants . In:  Scriver CR ,  Beaudet AL ,  Sly WS editor. The Metabolic and Molecular Basis of Inherited Disease . ed 8. New York: McGraw Hill; 2001;p. 2537–2570
  7. Jinnah HA , De Gregorio L , Harris JC , et al.   The spectrum of inherited mutations causing HPRT deficiency (75 new cases and a review of 196 previously reported cases) . Mutat Res . 2000;463:309–326
  8. Page T , Nyhan WL . The spectrum of HPRT deficiency (An update) . Adv Exp Med Biol . 1989;253A:129–133
  9. Wyngaarden JM , Kelley WN . Gout and hyperuricemia . New York: Grune and Stratton; 1976;
  10. Khattak FH , Morris IM , Harris K . Kelley-Seegmiller syndrome (A case report and review of the literature) . Br J Rheumatol . 1998;37:580–581
  11. Ogasawara N , Stout JT , Goto H , et al.   Molecular analysis of a female Lesch-Nyhan patient . J Clin Invest . 1989;84:1024–1027
  12. Van Bogaert P , Ceballos I , Desguerre I , et al.   Lesch-Nyhan syndrome in a girl . J Inherit Metab Dis . 1992;15:790–791
  13. Aral B , de Saint Basile G , Al-Garawi S , et al.   Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and non-random X-inactivation causing Lesch-Nyhan syndrome in a female patient . Hum Mutat . 1996;7:52–58
  14. De Gregorio L , Nyhan WL , Serafin E , et al.   An unexpected affected female patient in a classical Lesch-Nyhan family . Mol Genet Metab . 2000;69:263–268
  15. 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
  16. Simmonds HA , Cameron JS , Morris GS , et al.   Allopurinol in renal failure and the tumour lysis syndrome . Clin Chim Acta . 1986;160:189–195
  17. Stapleton FB . Uric acid nephropathy . In:  Edelmann CM editors. Pediatric Nephrology . ed 3. Boston: Little Brown; 1992;p. 1647–1659
  18. McCarthy GT . Medical diagnosis, management and treatment of Lesch-Nyhan Disease . Nucleosides, nucleotides and nucleic acids . 2004; (in press)
  19. Simmonds HA , Cameron JS , Barratt TM , et al.   Purine enzyme defects as a cause of acute renal failure in childhood . Pediatr Nephrol . 1989;3:433–437
  20. Augoustides-Savvopoulou P , Papachristou F , Fairbanks LD , et al.   Partial hypoxanthine-guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations (A cautionary tale) . Pediatrics . 2002;109:E17
  21. Puig JG , Mateos FA , Torres RJ , et al.   Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency . Eur J Clin Invest . 1998;28:950–957
  22. Simmonds HA , Duley JA , Davies PM . Analysis of purines and pyrimidines in blood, urine and other physiological fluids . In:  Hommes F editors. Techniques in diagnostic human biochemical genetics. A laboratory manual . New York: Wiley-Liss; 1991;p. 397–425
  23. Yamada Y , Suzumori K , Tanemura M , et al.   Molecular analysis of a Japanese family with Lesch-Nyhan syndrome (Identification of mutation and prenatal diagnosis) . Clin Genet . 1996;50:164–167
  24. Torres RJ , Mateos FA , Molano J , et al.   Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families . Hum Mutat . 2000;15:383
  25. Ray PF , Harper JC , Ao A , et al.   Successful preimplantation genetic diagnosis for sex linked Lesch-Nyhan Syndrome using specific diagnosis . Prenat Diagn . 1999;19:1237–1241
  26. Brock WA , Golden J , Kaplan GW . Xanthine calculi in the Lesch-Nyhan syndrome . J Urol . 1983;130:157–159
  27. Kenney IJ . Renal sonography in long standing Lesch Nyhan syndrome . Clin Radiol . 1991;43:39–41
  28. Zoref E , de Vries A , Sperling O . Mutant feedback resistant phosphoribosyl-pyrophosphate synthetase associated with purine overproduction and gout . J Clin Invest . 1975;56:1093–1099
  29. Becker MA . Hyperuricemia and gout . In:  Scriver CR ,  Beaudet AL ,  Sly WS , et al. editor. The Metabolic and Molecular Basis of Inherited Disease (ed 8) . New York: McGraw Hill; 2001;p. 2513–2535
  30. Ishizuka T , Iizasa T , Taira M , et al.   Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II . Biochim Biophys Acta . 1992;1130:139–148
  31. Kita K , Ishizuka T , Ishijima S , et al.   A novel 39-kDa phosphoribosylpyrophosphate synthetase-associated protein of rat liver. Cloning, high sequence similarity to the catalytic subunits, and a negative regulatory role . J Biol Chem . 1994;269:8334–8340
  32. Sonoda T , Ishizuka T , Kita K , et al.   Cloning and sequencing of rat cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein has a high homology to the catalytic subunits and the 39-kDa associated protein . Biochim Biophys Acta . 1997;1350:6–10
  33. Christen H-J , Hanefeld F , Duley JA , et al.   Distinct neurological syndrome in two brothers with hyperuricaemia . Lancet . 1992;340:1167–1168
  34. Chen Y-T . Glycogen storage diseases . In:  Scriver CR ,  Beaudet AL ,  Sly WS , et al. editor. The Metabolic and Molecular Basis of Inherited Disease (ed 8) . New York: McGraw Hill; 2001;p. 1521–1551
  35. Stone TW , Simmonds HA . Purines (Basic and clinical aspects) . London: Kluwer; 1991;
  36. Duncan H , Dixon A . Gout, familial hyperuricaemia, and renal disease . QJM . 1960;29:127–136
  37. Calabrese G , Simmonds HA , Cameron JS . Precocious familial gout with reduced fractional excretion of urate and normal purine enzymes . QJM . 1990;75:441–450
  38. Cameron JS , Moro F , Simmonds HA . Gout, uric acid and purine metabolism in paediatric nephrology . Pediatr Nephrol . 1993;7:105–118
  39. Berger L , Yü T-F . Renal function in gout. IV. An analysis of 524 gouty subjects including long-term studies . Am J Med . 1975;59:605–613
  40. Bleyer AJ , Woodward AS , Shibabi Z , et al.   Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene . Kidney Int . 2003;64:36–42
  41. Puig JG , Miranda ME , Mateos FA , et al.   Hereditary nephropathy associated with hyperuricaemia and gout . Arch Intern Med . 1993;153:357–365
  42. McBride MB , Simmonds HA , Ogg CS , et al.   Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children . Pediatr Nephrol . 1998;12:359–364
  43. Moro F , Ogg CS , Simmonds HA , et al.   Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease . Clin Nephrol . 1991;35:263–269
  44. Simmonds HA , Warren DJ , Cameron JS , et al.   Familial gout and renal failure in young women . Clin Nephrol . 1980;14:176–182
  45. Farebrother DA , Simmonds HA , Warren D , et al.   Uric acid crystal-induced nephropathy (Evidence for a specific renal lesion in a gouty family) . J Pathol . 1981;135:159–168
  46. Richmond JM , Kincaid-Smith P , Whitworth JA , et al.   Familial urate nephropathy . Clin Nephrol . 1981;16:163–168
  47. Dahan K , Fuchshuber A , Adamis S , et al.   Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 (Two facets of the same disease?) . J Am Soc Nephrol . 2001;12:2348–2357
  48. Dahan K , Devuyst O , Smaers M , et al.   A cluster if mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin . J Am Soc Nephrol . 2003;14:2883–2893
  49. Reiter L , Brown MA , Edmonds J . Familial hyperuricemic nephropathy . Am J Kidney Dis . 1995;25:235–241
  50. Lhotta K , Gruber J , Sgonc R , et al.   Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy . Nephron . 1998;79:340–344
  51. In:  Gresser U ,  Zöllner N editor. Urate deposition in man and its clinical consequences . Berlin: Springer-Verlag; 1999;
  52. Enomoto A , Kimura H , Chairoungdua A , et al.   Molecular identification of a renal urate anion exchanger that regulates blood urate levels . Nature . 2002;417:447–452
  53. Mazzali M , Hughes J , Kim YG , et al.   Elevated uric acid increases blood pressure in the rat by a novel crystal-independent mechanism . Hypertension . 2001;38:1101–1106
  54. Fairbanks LD , Cameron JS , Venkat-Raman G , et al.   Early treatment with allopurinol in familial juvenile hyperuricaemic nephropathy ameliorates progression of renal disease in long-term studies . QJM . 2002;95:597–607
  55. Messerli FH , Frolich ED , Dreslemski ER , et al.   Serum uric acid in essential hypertension (An indicator of renal vascular involvement) . Ann Intern Med . 1980;93:817–821
  56. Prieto C , Berrocal T  Spanish group for the study of FNAH . Ultrasound imaging and colour Doppler studies in familial nephropathy associated with hyperuricemia (FNAH) . Adv Exp Med Biol . 1995;370:65–68
  57. Roch-Ramel F . Renal transport of organic anions . Curr Opin Nephrol Hypertens . 1998;7:17–24
  58. Kumar S , Muchmore A . Tamm-Horsfall protein-uromodulin (1950–1990) . Kidney Int . 1990;37:1395–1401
  59. Hisatome I , Kosaka H , Ohtahara K , et al.   Renal handling of urate in a patient with familial juvenile gouty nephropathy . Intern Med . 1996;35:564–568
  60. Yakota N , Yamanaka H , Yamamoto Y , et al.   Autosomal dominantly transmission of gouty arthritis with renal disease in a large Japanese family . Ann Rheum Dis . 1991;50:108–111
  61. Lhotta K . Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? . Kidney Int . 2003;64:1920–1921 (letter)
  62. Smith CH , Graham YB . Congenital medullary cystic disease of the kidney with severe refractory anemia . Am J Dis Child . 1945;69:369–377
  63. Fanconi G , Hanhart E , von Albertini A , et al.   Die familiäre juvenile nephronophthise . Helv Paediatr Acta . 1951;6:1–9
  64. Mongeau JG , Worthen HG . Nephronophthisis and medullary cystic kidney disease . Am J Med . 1967;43:345–355
  65. Gardner KD . Evolution of clinical signs in adult-onset cystic disease of the renal medulla . Ann Intern Med . 1971;74:47–54
  66. Antignac C , Arduy CH , Beckmann JS , et al.   A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p . Nat Genet . 1993;3:342–345
  67. Thompson GR , Wess JJ , Goldman RT , et al.   Familial occurrence of hyperuricemia, gout and medullary cystic disease . Arch Intern Med . 1978;138:1614–1617
  68. Burke JR , Inglis JA , Craswell PW . Juvenile nephronophthisis and medullary cystic disease: The same disease. Report of a large family with medullary cystic disease associated with gout and epilepsy . Clin Nephrol . 1981;18:1–8
  69. Scolari F , Puzzer F , Amoroso A , et al.   Identification of a new locus for medullary cystic disease, on chromosome 16p12 . Am J Hum Genet . 1999;64:1655–1660
  70. Christodoulou K , Tsingis M , Stavrou C , et al.   Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease . Hum Mol Genet . 1998;7:905–911
  71. Stavrou C , Koptides M , Tombazos C , et al.   Autosomal-dominant medullary cystic kidney disease type 1 (Clinical and molecular findings in six large Cypriot families) . Kidney Int . 2002;62:1385–1394
  72. Kamatani N , Moritani M , Yamanaka H , et al.   Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family . Arthritis Rheum . 2000;43:925–929
  73. Stibùrková B , Majewski J , Hodañová K , et al.   Familial juvenile hyperuricemic nephropathy (Localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity) . Am J Hum Genet . 2000;66:1989–1994
  74. Hateboer N , Gumbs C , Teare MD , et al.   Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12 . Kidney Int . 2001;60:1233–1239
  75. Stacey JM , Turner JJ , Harding B , et al.   Genetic mapping studies of familial hyperuricemic nephropathy on chromosome 16p11-13 . J Clin Endocrinol Metab . 2003;88:464–470
  76. Stibùrková B , Majewski J , Hodañová K , et al.   Familial juvenile hyperuricaemic nephropathy (FJHN) (Linkage analysis in 15 families, physical and transcriptional characteristics of the FJHN critical region and analysis of 7 candidate genes) . Eur J Hum Genet . 2003;11:145–154
  77. Pirulli D , Puzzer D , De Fusco M , et al.   Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal medullary cystic kidney disease linked to 16p12 . J Nephrol . 2001;14:392–396
  78. Hart TC , Gorry MC , Hart MC , et al.   Mutations of the UMOD gene are responsible for medullary cystic disease 2 and familial juvenile hyperuricaemic nephropathy . J Med Genet . 2002;39:882–892
  79. Casari G , Amoroso A . Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 . J Nephrol . 2003;16:459
  80. Turner JJ , Stacey JM , Harding B , et al.   UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy . J Clin Endocrinol Metab . 2003;88:1398–1401
  81. Wolf MTF , Mucha BE , Attanasio M , et al.   Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains . Kidney Int . 2003;64:1580–1587
  82. Resnick JS , Sisson S , Vernier RL . Tamm-Horsfall protein (Abnormal localization in renal disease) . Lab Invest . 1978;38:550–555
  83. Zager RA , Cotran RS , Hoyer JR . Pathologic localization of Tamm-Horsfall protein in interstitial deposits in interstitial disease . Lab Invest . 1978;38:52–57
  84. Rampoldi L , Caridi G , Santon D , et al.   Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics . Hum Med Genet . 2003;12:3369–3384
  85. Kroiss S , Huck K , Berthold S , et al.   Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease . Nephrol Dial Transplant . 2000;15:818
  86. Auranen M , Ala-Mello S , Turunen JA , et al.   Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21 . Kidney Int . 2001;60:1225–1232
  87. Ohno I , Ichida K , Okabe H , et al.   Familial juvenile gouty nephropathy (Exclusion of 16p12 from the candidate locus) . Nephron . 2002;92:573–575
  88. Bingham C , Ellard S , van’t Hoff WG . Familial juvenile hyperuricemic nephropathy associated with hepatocyte nuclear factor 1β gene mutation . Kidney Int . 2003;63:1645–1651

PII: S0270-9295(04)00146-9

doi: 10.1016/j.semnephrol.2004.09.003

Seminars in Nephrology
Volume 25, Issue 1 , Pages 9-18 , January 2005

Article Tools

* Image Usage & Resolution