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.