Department of Medicine, Kidney Center, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Clin Exp Nephrol. 2012 Apr;16(2):316-9. doi: 10.1007/s10157-011-0557-3. Epub 2011 Nov 3.
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.
家族性肾性低尿酸血症是一种遗传性疾病，其特征为尿酸（UA）清除率极高，并与急性肾衰竭（ARF）相关。一名 17 岁的日本男性在无氧运动后发生 ARF。经过约 2 周的水化治疗后，肾功能完全恢复。缓解后，低尿酸血症变得明显（1.0mg/dL），初始 UA（4.8mg/dL）和尿酸排泄分数（FEUA）>50%。他的父母 UA 和 FEUA 水平正常。对调节 UA 水平的尿酸阴离子转运蛋白 [SLC22A12 基因：UA 转运蛋白 1（URAT1）] 的聚合酶链反应显示复合杂合突变（Q297X 和 R90H）。因此，我们描述了一名日本男性，他患有低尿酸血症并发无氧运动诱导的 ARF，明确证明了负责基因 URAT1 存在遗传异常。
