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Pediatr Nephrol. 2005 May;20(5):576-8. Epub 2005 Mar 17.

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

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Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita-shi, 010-8543, Akita, Japan.


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.

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