Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia.
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.
Mima
Akira
A
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
Ichida
Kimiyoshi
K
Matsubara
Takeshi
T
Kanamori
Hiroshi
H
Inui
Emi
E
Tanaka
Misa
M
Manabe
Yumi
Y
Iehara
Noriyuki
N
Tanaka
Yoshinori
Y
Yanagita
Motoko
M
Yoshioka
Atsuko
A
Arai
Hidenori
H
Kawamura
Masashi
M
Usami
Katsumasa
K
Hosoya
Tatsuo
T
Kita
Toru
T
Fukatsu
Atsushi
A
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
D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid