Pediatric Nephrology

, Volume 20, Issue 5, pp 576–578 | Cite as

Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese

  • Tsutomu Takahashi
  • Satoko Tsuchida
  • Tasuku Oyamada
  • Tadashi Ohno
  • Masahiro Miyashita
  • Seiji Saito
  • Kazuo Komatsu
  • Kouei Takashina
  • Goro Takada
Original Article

Abstract

Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. One Japanese patient with renal hypouricemia demonstrated compound heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A). It was suggested that these two mutations are recurrent mutations of the URAT1 gene in a Japanese population. In addition, we expect the prevalence of renal hypouricemia, 0.23%, from the analysis of serum urate levels in 1,730 Japanese children.

Keywords

Renal hypouricemia URAT1 gene 

References

  1. 1.
    Ohta T, Sakano T, Ogawa T, Kato J, Awaya Y, Kihara H, Kinoshita Y (2002) Exercise-induced acute renal failure with renal hypouricemia: a case report and a review of the literature. Clin Nephrol 58:313–316Google Scholar
  2. 2.
    Ishikawa I (2002) Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. Nephron 91:559–570Google Scholar
  3. 3.
    Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokawa K, Niwa T, Kanai Y, Endou H (2002) Molecular identification of a renal urate-anion exchanger that regulates blood urate levels. Nature 417:447–452Google Scholar
  4. 4.
    Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T (2004) Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol 15:164–173Google Scholar
  5. 5.
    Komoda F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kamimaki I, Igarashi T (2004) The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr Nephrol 19:728–733Google Scholar
  6. 6.
    Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H (2004) A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int 66:935–994Google Scholar
  7. 7.
    Van Peenen HJ (1973) Causes of hypouricemia. Ann Intern Med 78:977–978Google Scholar
  8. 8.
    Hisatome I, Ogino K, Kotake H, Ishiko R, Saito M, Hasegawa J, Mashiba H, Nakamoto S (1989) Cause of persistent hypouricemia in outpatients. Nephron 51:13–16Google Scholar

Copyright information

© IPNA 2005

Authors and Affiliations

  • Tsutomu Takahashi
    • 1
    • 3
  • Satoko Tsuchida
    • 1
  • Tasuku Oyamada
    • 3
  • Tadashi Ohno
    • 3
  • Masahiro Miyashita
    • 3
  • Seiji Saito
    • 3
  • Kazuo Komatsu
    • 3
  • Kouei Takashina
    • 2
    • 3
  • Goro Takada
    • 1
    • 3
  1. 1.Department of PediatricsAkita University School of MedicineAkitaJapan
  2. 2.Akita Prefectural Institute of Public HealthAkitaJapan
  3. 3.School Health CommitteeAkita Medical AssociationAkitaJapan

Personalised recommendations