title: Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia.
abstract: Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid clearance and is associated with acute renal failure (ARF). An 18-year-old sumo wrestler developed ARF after anaerobic exercise. Several hours after the exercise, he had a pain in the loins with oliguria, headache, and nausea. On admission, his serum uric acid was decreased despite the elevation of serum creatinine (9.5 mg/dL). The level of creatine kinase was normal and there was no myoglobinuria or urolithiasis. Magnetic resonance imaging showed no significant abnormality. Renal function improved completely within 2 weeks of hydration treatment. After remission, hypouricemia became obvious (1.0 mg/dL) from the initial level of uric acid (6.1 mg/dL) and fractional excretion of uric acid was 49%. Polymerase chain reaction of a urate anion exchanger known to regulate blood urate level (SLC22A12 gene: URAT1) demonstrated that homozygous mutations in exon 4 (W258X). Both parents showed heterozygous mutation of the URAT1 gene, but both siblings showed no mutation. Thus, we describe a Japanese sumo wrestler of familial renal hypouricemia complicated with anaerobic exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene, URAT1.
authors.affiliation: Department of Nephrology, Kyoto University Graduate School of Medicine, and Department of Internal Medicine, Ijinkai Takeda General Hospital, Kyoto, Japan. amima@kuhp.kyoto-u.ac.jp
authors.forename: Akira
authors.initials: A
authors.lastname: Mima
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Takeshi
authors.initials: T
authors.lastname: Matsubara
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kanamori
authors.forename: Emi
authors.initials: E
authors.lastname: Inui
authors.forename: Misa
authors.initials: M
authors.lastname: Tanaka
authors.forename: Yumi
authors.initials: Y
authors.lastname: Manabe
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Iehara
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Motoko
authors.initials: M
authors.lastname: Yanagita
authors.forename: Atsuko
authors.initials: A
authors.lastname: Yoshioka
authors.forename: Hidenori
authors.initials: H
authors.lastname: Arai
authors.forename: Masashi
authors.initials: M
authors.lastname: Kawamura
authors.forename: Katsumasa
authors.initials: K
authors.lastname: Usami
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Hosoya
authors.forename: Toru
authors.initials: T
authors.lastname: Kita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fukatsu
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology* / Q000503:physiopathology; D000293:Adolescent; D004252:DNA Mutational Analysis; D015444:Exercise; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D027361:Organic Anion Transporters / Q000235:genetics; D027701:Organic Cation Transport Proteins / Q000235:genetics; D010375:Pedigree; D014527:Uric Acid / Q000097:blood*; D014952:Wrestling
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid