假肥大型肌营养不良患儿心肌损害的诊治进展

Advances in diagnosis and treatment of myocardial damage in childern DMD/BMD

假肥大型肌营养不良(Duchenne/Becker muscular dystrophy, DMD/BMD)是一种进行性、破坏性神经肌肉病, 由编码抗肌萎缩蛋白的基因突变所致, 基因突变形式多样, 疾病表现轻重不一。该病起病隐匿, 病初仅表现为血清酶学异常, 随着疾病进展, 骨骼肌及心肌等横纹肌细胞被进一步破坏, 逐渐出现步态异常和心肌损害, 最终患儿多死于扩张型心肌病所致心力衰竭, 目前尚无有效根治方法, 现有的治疗方法包括口服糖皮质激素和恢复抗肌萎缩蛋白疗法多局限于缓解骨骼肌症状, 对于改善心脏症状十分有限, 该文综述了DMD/BMD患儿心肌损害的诊治进展, 以期为临床研究和基因治疗提供参考。

Duchenne/Becker muscular dystrophy(DMD/BMD)is a progressive,destructive neuromuscular disease.It is caused by mutations in the gene encoding dystrophy.The mutations come in various forms and the severity of the disease varies.The onset of the disease is insidious,and the initial manifestation is only abnormal serum enzymes.With the progression of the disease,the skeletal muscle and myocardial striated muscle cells are further destroyed,gait abnormalities and myocardial damage gradually appear,and eventually most children die of heart failure.At present,there is no effective radical cure.The existing treatment methods,including oral glucocorticoids and restoring functional dystrophin,are mostly limited to alleviate skeletal muscle symptoms,and are very limited to improve cardiac symptoms.This article reviews the progress in the diagnosis and treatment of myocardial damage in DMD/BMD,in order to provide reference for clinical research and gene therapy.