Abstract：
Acute rhabdomyolysis (AR) leading to acute kidney injury has many underlying etiologies, however, when the primary trigger is exercise, the most usual underlying cause is either a genetic muscle disorder or unaccustomed intense exercise in a healthy individual. Three adult men presented with a history of exercise intolerance and episodes of acute renal impairment following intense exercise, thought to be due to AR in the case of two, and dehydration in one. The baseline serum CK was mildly raised between attacks in all three patients and acutely raised during attacks in two of the three patients. Following referral to a specialized neuromuscular centre, further investigation identified very low serum urate (<12 umol/L). In all three men, genetic studies confirmed homozygous mutations in SLC2A9, which encodes for facilitated glucose transporter member 9 (GLUT9), a major regulator of urate homeostasis. Hereditary hypouricaemia should be considered in people presenting with acute kidney injury related to intense exercise. Serum urate evaluation is a useful screening test best undertaken after recovery.
摘要：
导致急性肾损伤的急性横纹肌溶解症（AR）有许多潜在的病因，然而,当主要触发因素是运动时，最常见的根本原因是遗传性肌肉疾病或健康个体不习惯的剧烈运动。三名成年男性在剧烈运动后有运动不耐受和急性肾功能损害发作史，在两个的情况下，被认为是由于AR，脱水在一个。在所有三名患者的发作之间，基线血清CK轻度升高，在三名患者中的两名发作期间急剧升高。转诊到专门的神经肌肉中心后，进一步的调查发现非常低的血清尿酸（<12umol/L）。在所有三个男人中，遗传研究证实了SLC2A9的纯合突变，其编码促进葡萄糖转运蛋白成员9（GLUT9），尿酸盐稳态的主要调节剂。对于与剧烈运动相关的急性肾损伤患者，应考虑遗传性低尿酸血症。血清尿酸盐评估是一种有用的筛选测试，最好在恢复后进行。
