MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square London, UK.
Neuromuscul Disord. 2024 Jan;34:49-53. doi: 10.1016/j.nmd.2023.11.012. Epub 2023 Dec 6.
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.
急性横纹肌溶解症（AR）导致急性肾损伤有许多潜在的病因，但当主要诱因是运动时，最常见的潜在原因是遗传肌肉疾病或健康个体不习惯的剧烈运动。三名成年男性均有运动不耐受病史，并在剧烈运动后出现急性肾功能损害，其中两名被认为是由于 AR，一名是由于脱水。在所有三名患者中，基线血清肌酸激酶（CK）在发作之间轻度升高，在三名患者中的两名患者发作期间急性升高。在转介到专门的神经肌肉中心后，进一步的调查发现尿酸非常低（<12 μmol/L）。在所有三名男性中，基因研究均证实 SLC2A9 纯合突变，该基因编码易化葡萄糖转运蛋白 9（GLUT9），是尿酸稳态的主要调节剂。应考虑遗传性低尿酸血症与剧烈运动相关的急性肾损伤患者。尿酸评估是一种有用的筛查试验，最好在恢复后进行。
