Veiga Hugo, Gouveia Rita, Xavier Beatriz, Lourenço Patrícia
Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT.
Internal Medicine, Faculdade de Medicina da Universidade do Porto, Porto, PRT.
Cureus. 2022 Feb 9;14(2):e22055. doi: 10.7759/cureus.22055. eCollection 2022 Feb.
McArdle disease is a genetic disorder that leads to impaired glycogenolysis in the muscle, resulting in exercise intolerance, fatigue, myalgias, and basal elevation of creatine kinase (CK). We report a case of a young woman with McArdle disease who had an episode of acute kidney injury (AKI) requiring temporary hemodialysis (HD), with subsequent complete recovery of renal function. We aim to report a rare clinical presentation of an already rare disease and discuss the possible causes involved; therefore, contributing to a better knowledge of the disease.
麦克尔迪氏病是一种遗传性疾病，会导致肌肉中糖原分解受损，从而引起运动不耐受、疲劳、肌痛以及肌酸激酶（CK）基础水平升高。我们报告一例患有麦克尔迪氏病的年轻女性病例，该患者发生了急性肾损伤（AKI），需要进行临时血液透析（HD），随后肾功能完全恢复。我们旨在报告一种罕见疾病的罕见临床表现，并讨论其中可能涉及的原因；因此，有助于更好地了解该疾病。
