Derakhshan Dorna, Derakhshan Ali, Bashir Faizan
Department of Pediatric Nephrology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Shiraz Nephro-Urology Research Centre, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Pediatr Nephrol. 2025 Sep;40(9):2819-2822. doi: 10.1007/s00467-025-06758-6. Epub 2025 Apr 3.
McArdle disease, a rare metabolic disorder, can lead to muscle breakdown and acute kidney injury (AKI) following physical exertion. We report a 12-year-old girl who developed AKI after several hours of swimming. Laboratory findings showed elevated blood urea nitrogen, creatinine, and creatine phosphokinase levels, indicating myoglobinuria. Genetic testing confirmed a pathogenic c.1708C > T mutation in the PYGM gene, diagnosing McArdle disease. After four sessions of hemodialysis, her kidney function fully recovered. This case highlights the need to consider metabolic disorders in the differential diagnosis of AKI, even following moderate exercise, and underscores the role of genetic testing in diagnosing rare conditions.
麦克尔迪氏病是一种罕见的代谢紊乱疾病，身体劳累后可导致肌肉分解和急性肾损伤（AKI）。我们报告一名12岁女孩，她在游泳数小时后出现急性肾损伤。实验室检查结果显示血尿素氮、肌酐和肌酸磷酸激酶水平升高，提示肌红蛋白尿。基因检测证实PYGM基因存在致病性c.1708C＞T突变，确诊为麦克尔迪氏病。经过四次血液透析治疗后，她的肾功能完全恢复。该病例强调，即使是适度运动后发生的急性肾损伤，在鉴别诊断时也需要考虑代谢紊乱疾病，并突出了基因检测在罕见病诊断中的作用。
