RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction
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DOI：
10.1016/j.neurol.2016.07.018
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发表时间：
2016-10-01
影响因子：
3
通讯作者：
Jungbluth, H.
中科院分区：
文献类型：
--
作者：
Voermans, N. C.;Snoeck, M.;Jungbluth, H.
骨骼肌ryanodine受体（RYR1）基因突变与一生中出现的广泛遗传性肌病有关。恶性高热易感性（MHS）相关的RYR1突变已成为体力横纹肌溶解的常见原因，在其他健康个体中占高达30%的横纹肌溶解发作。常见的诱因是运动和高温，病毒感染、酒精和药物也不太常见。大多数受试者通常身体强壮，没有个人或家族恶性高热史。热不耐受和寒冷引起的肌肉僵硬可能是一个特征。认识到这种（可能并不罕见）横纹肌溶解的原因对于有效的咨询，识别潜在的恶性高热易感个体和适应训练制度至关重要。各种动物模型的研究提供了关于可能的病理生理机制的见解，并提供了治疗观点。(C) 2016年由Elsevier Masson SAS出版。
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide spectrum of inherited myopathies presenting throughout life. Malignant hyperthermia susceptibility (MHS)-related RYR1 mutations have emerged as a common cause of exertional rhabdomyolysis, accounting for up to 30% of rhabdomyolysis episodes in otherwise healthy individuals. Common triggers are exercise and heat and, less frequently, viral infections, alcohol and drugs. Most subjects are normally strong and have no personal or family history of malignant hyperthermia. Heat intolerance and cold-induced muscle stiffness may be a feature. Recognition of this (probably not uncommon) rhabdomyolysis cause is vital for effective counselling, to identify potentially malignant hyperthermia-susceptible individuals and to adapt training regimes. Studies in various animal models provide insights regarding possible pathophysiological mechanisms and offer therapeutic perspectives. (C) 2016 Published by Elsevier Masson SAS.