title: A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
abstract: Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid (UA) clearance and is associated with acute renal failure (ARF). A 17-year-old Japanese male developed ARF after anerobic exercise. Renal function improved completely after approximately 2 weeks of hydration treatment. After remission, hypouricemia became evident (1.0 mg/dL) from the initial level of UA (4.8 mg/dL) and fractional excretion of uric acid (FEUA) was >50%. His parents showed normal levels of UA and FEUA. Polymerase chain reaction of a urate anion exchanger known to regulate UA level [SLC22A12 gene: UA transporter 1 (URAT1)] demonstrated compound heterozygous mutations (Q297X and R90H). Thus, we describe a Japanese male with hypouricemia complicated by anerobic exercise-induced ARF, with definite demonstration of a genetic abnormality in the responsible gene, URAT1.
authors: Department of Medicine, Kidney Center, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
authors: Ayami
authors: A
authors: Ochi
authors: Takashi
authors: T
authors: Takei
authors: Akiko
authors: A
authors: Ichikawa
authors: Chiari
authors: C
authors: Kojima
authors: Takahito
authors: T
authors: Moriyama
authors: Mitsuyo
authors: M
authors: Itabashi
authors: Toshio
authors: T
authors: Mochizuki
authors: Atsuo
authors: A
authors: Taniguchi
authors: Kosaku
authors: K
authors: Nitta
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D000293:Adolescent; D015444:Exercise; D006801:Humans; D008297:Male; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications / Q000235:genetics*; D014527:Uric Acid / Q000378:metabolism*; D014545:Urinary Calculi / Q000150:complications / Q000235:genetics*
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid