title: 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.affiliation: Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita-shi, 010-8543, Akita, Japan. tomy@med.akita-u.ac.jp
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takahashi
authors.forename: Satoko
authors.initials: S
authors.lastname: Tsuchida
authors.forename: Tasuku
authors.initials: T
authors.lastname: Oyamada
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ohno
authors.forename: Masahiro
authors.initials: M
authors.lastname: Miyashita
authors.forename: Seiji
authors.initials: S
authors.lastname: Saito
authors.forename: Kazuo
authors.initials: K
authors.lastname: Komatsu
authors.forename: Kouei
authors.initials: K
authors.lastname: Takashina
authors.forename: Goro
authors.initials: G
authors.lastname: Takada
mesh_terms: D058186:Acute Kidney Injury / Q000453:epidemiology* / Q000235:genetics*; D000293:Adolescent; D017677:Age Distribution; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins; D005082:Physical Exertion; D017354:Point Mutation; D015995:Prevalence; D017678:Sex Distribution; D014527:Uric Acid / Q000097:blood
chemical_list: D002352:Carrier Proteins; D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid