Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.
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.
Takahashi
Tsutomu
T
Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita-shi, 010-8543, Akita, Japan. tomy@med.akita-u.ac.jp
Tsuchida
Satoko
S
Oyamada
Tasuku
T
Ohno
Tadashi
T
Miyashita
Masahiro
M
Saito
Seiji
S
Komatsu
Kazuo
K
Takashina
Kouei
K
Takada
Goro
G
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
D002352:Carrier Proteins; D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid