Scalco Renata Siciliani, Gardiner Alice R, Pitceathly Robert Ds, Zanoteli Edmar, Becker Jefferson, Holton Janice L, Houlden Henry, Jungbluth Heinz, Quinlivan Ros
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Department of Neurology, HSL, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil.
Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3.
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity.In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM.
横纹肌溶解症（RM）是一种临床急症，其特征为骨骼肌迅速受损，细胞内肌肉成分释放到血流中，导致肌红蛋白尿，严重时可引发急性肾衰竭。除创伤外，还报道了多种病因，包括药物滥用和感染。潜在的遗传疾病也是RM的病因，鉴于其显著的异质性和相对罕见性，往往会带来诊断挑战。在本文中，我们综述了已知与RM相关的一系列罕见遗传缺陷。对每个基因进行了以下方面的综述：临床表型、RM的典型诱发因素以及推荐的诊断方法。本综述的目的是突出与特定遗传缺陷相关的最重要特征，以帮助诊断患有复发性RM遗传病因的患者。
