Warren Jason D, Blumbergs Peter C, Thompson Philip D
Department of Neurology, University of Adelaide, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Muscle Nerve. 2002 Mar;25(3):332-47. doi: 10.1002/mus.10053.
Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. A diverse spectrum of inherited and acquired disorders affecting muscle membranes, membrane ion channels, and muscle energy supply causes rhabdomyolysis. Common final pathophysiological mechanisms among these causes of rhabdomyolysis include an uncontrolled rise in free intracellular calcium and activation of calcium-dependent proteases, which lead to destruction of myofibrils and lysosomal digestion of muscle fiber contents. Recent advances in molecular genetics and muscle enzyme histochemistry may enable a specific metabolic diagnosis in many patients with idiopathic recurrent rhabdomyolysis.
横纹肌溶解症是一种骨骼肌分解且肌肉内容物渗漏的综合征,常伴有肌红蛋白尿,如果病情足够严重,可能会引发急性肾衰竭,并伴有潜在的危及生命的代谢紊乱。多种影响肌膜、膜离子通道和肌肉能量供应的遗传性和获得性疾病会导致横纹肌溶解症。这些横纹肌溶解症病因的常见最终病理生理机制包括细胞内游离钙不受控制地升高以及钙依赖性蛋白酶的激活,这会导致肌原纤维的破坏和肌肉纤维内容物的溶酶体消化。分子遗传学和肌肉酶组织化学的最新进展可能使许多特发性复发性横纹肌溶解症患者能够得到特异性的代谢诊断。