Breedlove Alyssa, Rohrschneider Ashton, Virgilio Richard, Fleming John R
Clinical, Biomedical, and Educational Research, Edward Via College of Osteopathic Medicine, Spartanburg, USA.
Clinical, Biomedical, and Educational Research, Edward Via College of Osteopathic Medicine, Auburn, USA.
Cureus. 2024 Oct 5;16(10):e70901. doi: 10.7759/cureus.70901. eCollection 2024 Oct.
Rhabdomyolysis is a relatively rare condition caused by the damage and release of myocyte contents. It occurs most commonly secondary to strenuous exercise. Rhabdomyolysis carries the risk of life-threatening negative sequelae such as acute kidney injury or death. This case report describes a middle-aged male patient who has presented with rhabdomyolysis five times over the past nine years, each following a viral illness. No inborn errors of metabolism, neuromuscular junction conditions, or myopathies were found to explain the patient's recurrent rhabdomyolysis except for two variants of unknown significance in the SYNE2 gene that has been linked with Emery-Dreifuss muscular dystrophy.
横纹肌溶解症是一种相对罕见的病症,由肌细胞内容物的损伤和释放引起。它最常见于剧烈运动之后。横纹肌溶解症存在引发诸如急性肾损伤或死亡等危及生命的负面后遗症的风险。本病例报告描述了一名中年男性患者,在过去九年中曾五次出现横纹肌溶解症,每次均在病毒感染后发生。除了与Emery-Dreifuss肌营养不良症相关的SYNE2基因中两个意义不明的变异外,未发现先天性代谢缺陷、神经肌肉接头疾病或肌病可以解释该患者反复出现的横纹肌溶解症。