Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese

Pediatr Nephrol. 2005 May;20(5):576-8. doi: 10.1007/s00467-005-1830-z. Epub 2005 Mar 17.


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.

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / epidemiology*
  • Acute Kidney Injury / genetics*
  • Adolescent
  • Age Distribution
  • Carrier Proteins / genetics*
  • Child
  • Female
  • Humans
  • Japan / epidemiology
  • Male
  • Organic Anion Transporters / genetics*
  • Organic Cation Transport Proteins
  • Physical Exertion
  • Point Mutation*
  • Prevalence
  • Sex Distribution
  • Uric Acid / blood


  • Carrier Proteins
  • Organic Anion Transporters
  • Organic Cation Transport Proteins
  • SLC22A12 protein, human
  • Uric Acid