抗肌萎缩蛋白病中国诊断指南  

Chinese guidelines on the diagnosis of dystrophinopathy

作　　者：中华医学会罕见病分会 北京医学会罕见病分会 熊晖[2] 袁云[3] 谢志颖 Chinese Medical Association Rare Disease Branch;Beijing Medical Association Rare Disease Branch;Xiong Hui;Yuan Yun(不详;Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Department of Neurology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]不详 [2]北京大学第一医院儿科,北京100034 [3]北京大学第一医院神经内科,北京100034

出　　处：《中华医学杂志》2024年第11期822-833,共12页National Medical Journal of China

基　　金：国家自然科学基金(82201553);中央高水平医院临床科研业务费资助(2023HQ10)

摘　　要：抗肌萎缩蛋白病是由编码抗肌萎缩蛋白的DMD基因致病性变异所导致的一组主要累及骨骼肌和(或)心肌的X-连锁隐性遗传性肌病,包括Duchenne型肌营养不良、Becker型肌营养不良以及X-连锁扩张型心肌病。DMD基因致病性变异广泛而复杂,导致部分患者的诊断和临床分型复杂而困难。精准的分子遗传学诊断对于抗肌萎缩蛋白病的临床诊治、多学科管理、遗传咨询、产前诊断和基因治疗的选择具有重要意义。本指南基于抗肌萎缩病的研究进展,借鉴国内外抗肌萎缩蛋白病的指南共识,在抗肌萎缩蛋白病的临床表现、遗传学基础、诊断及临床分型、遗传学诊断流程以及临床遗传咨询方面达成共识,提出18条推荐意见。本指南旨在规范和优化抗肌萎缩蛋白病的诊断,为临床医师和政府管理人员的工作提供参考,共同降低抗肌萎缩蛋白病患者的诊断难度。Dystrophinopathy refers to a group of X-linked recessive myopathies that primarily affect skeletal and/or cardiac muscle caused by pathogenic variants in the dystrophin-encoding DMD gene,including Duchenne muscular dystrophy,Becker muscular dystrophy,and X-linked dilated cardiomyopathy.The broad and complex spectrum of pathogenic DMD variants complicates the diagnosis and clinical classification in some patients.The precise genetic diagnosis is of great significance for the clinical diagnosis and treatment,multidisciplinary management,genetic counseling,prenatal diagnosis,and selection of gene therapy in dystrophinopathy.The present guideline is primarily based on the research advances in dystrophinopathy.Meanwhile,the foreign and domestic clinical guidelines or consensus for dystrophinopathy were referenced to put forward 18 recommendations and reach a consensus on the clinical manifestations,genetic basis,clinical diagnosis and classification,genetic diagnosis,and clinical genetic counseling of dystrophinopathy.This guideline aims to standardize and optimize the diagnostic process and reduce the diagnostic difficulty of patients with dystrophinopathy.In addition,this guideline provides some practical reference for clinicians and government staff.

关 键 词：肌营养不良 抗肌萎缩蛋白 诊断 指南 

分 类 号：R596.1[医药卫生—内科学]