儿童扩张型心肌病相关基因的研究进展  

Genes related to dilated cardiomyopathy in children

作　　者：张慧(综述) 魏兵(审校) Zhang Hui;Wei Bing(Department of Pediatrics,General Hospital of Northern Theater Command,Shenyang 110016,China)

机构地区：[1]北部战区总医院儿科,沈阳110016

出　　处：《国际儿科学杂志》2020年第4期223-226,共4页International Journal of Pediatrics

基　　金：辽宁省科学技术计划项目(2018225070)。

摘　　要：扩张型心肌病(dilated cardiomyopathy,DCM)是儿童心肌病中最常见的类型,其病因复杂,已知有心肌炎、神经肌肉疾病、家族性心肌病、遗传代谢病及先天性畸形等。近年越来越多的基因突变被发现与DCM高度相关,包括肌小节相关基因、细胞骨架相关基因、核膜蛋白相关基因、离子通道相关基因及其他DCM相关基因。相关基因发生突变影响基因表达结果,进而导致相关蛋白功能异常,最终导致不同临床表型的DCM。目前在临床工作中DCM以对症支持治疗为主,尚缺乏特异性治疗,预后差异较大,基因治疗可能是未来的发展方向。该文就DCM发病机制、临床表型及预后与基因突变之间的关联性进行综述。Dilated cardiomyopathy(DCM)is the most common childhood cardiomyopathy,which has mainly due to complex causes including myocarditis,neuromuscular disease,familial cardiomyopathy,inherited metabolic disorders and congenital malformation.In recent years,DCM has been found to be highly associated with an increasing number of gene mutations,including sarcomere related genes,cytoskeleton related genes,nuclear membrane protein related genes,ion channel related genes and other DCM related genes.Gene mutation affects gene expression,and causes the abnormal function of related proteins,ultimately leading to different clinical phenotypes of DCM.However,at present,the main treatment of DCM is symptomatic support,without specific treatment.In terms of prognosis,there are great differences in different patients.Therefore,gene therapy may be the future direction.In this paper,the relationship between the pathogenesis,clinical phenotype,prognosis and gene mutation of DCM is reviewed.

关 键 词：扩张型心肌病 基因突变 基因治疗 

分 类 号：R54[医药卫生—心血管疾病]