Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.

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.

• Authors: Tsutomu Takahashi, Satoko Tsuchida, Tasuku Oyamada, Tadashi Ohno, Masahiro Miyashita, Seiji Saito, Kazuo Komatsu, Kouei Takashina, Goro Takada
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 20 Issue 5 Pg. 576-8 (May 2005) ISSN: 0931-041X [Print] Germany
• PMID: 15772829 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

• Acute Kidney Injury (epidemiology, 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)