儿童进行性肌营养不良临床特征及基因分析

陈贤娥 陈琅 吴丽娟

[摘要] 目的 对儿童进行性肌营养不良临床特征及基因进行分析。 方法 纳入2013年11月～2019年12月就诊本院的进行性肌营养不良儿童33例，对其临床表现、酶谱检查、肌电图及基因检测等相关资料进行回顾性研究。结果 33例患儿中有30例（90.9%）为男性，3例（9.1%）为女性，其中11例（33.3%）以行走困难，步态异常，肢体无力为主要症状，22例（66.7%）以肌酶、肝酶异常升高为首发症状，伴或不伴有智力发育迟缓。MLPA、NGS-DNA测序或者肌肉活检可明确诊断。基因测序显示其基因缺失部位主要在2个区段，以45～54号及2～20号最为常见，但临床表现与缺失或重复的片段部位无太大相关性。 结论 认识儿童进行性肌营养不良的临床特征及基因突变特点，早期进行基因筛查，为二胎产前诊断提供借鉴，更好实现优生优育，降低本病的发病率及死亡率。

[关键词] 进行性肌营养不良;抗肌萎缩蛋白;儿童;基因筛查

[中图分类号] R746.9          [文献标识码] B          [文章编号] 1673-9701（2020）15-0066-03

Clinical characteristics and genetic analysis of children with progressive muscular dystrophy

CHEN Xian'e   CHEN Lang   WU Lijuan   LIN Xin

Department of Pediatrics， Fujian Provincial Hospital Affiliated to Fujian Medical University， Fuzhou   350001， China

[Abstract] Objective To analyze the clinical features and genes of children with progressive muscular dystrophy. Methods A total of 33 children with progressive muscular dystrophy who were treated in our hospital from November 2013 to December 2019 were included， and their clinical manifestations， zymogram， electromyography， and genetic testing were retrospectively studied. Results Of the 33 children， 30（90.9%） were male and 3（9.1%） were female. Among them， 11（33.3%） had difficulty walking， abnormal gait， and limb weakness as the main symptoms， 22（66.7%） had abnormally increased muscle enzymes and liver enzymes as the first symptom， with or without mental retardation. MLPA， NGS-DNA sequencing or muscle biopsy can be used to confirm the diagnosis. Gene sequencing showed that the gene deletion site was mainly in two segments，with 45-54 and 2-20 as the most common.But the clinical manifestations were not much related to the missing or repeated fragments. Conclusion It can provide a reference for the prenatal diagnosis of the second child by recognizing the clinical features and gene mutation characteristics of children with progressive muscular dystrophy and conducting early genetic screening， to realize better outcome of pregnancy and better child-raising， and to reduce the incidence and mortality of this disease.

[Key words] Progressive muscular dystrophy; Anti-dystrophin; Children; Genetic screening

进行性肌营养不良（progressive muscular dystrophy）是逐渐进展的对称性肌无力、肌萎缩、步态异常为主要表现的原发性骨骼肌肉病，常见有杜氏进行性肌营养不良（Duchenne muscular dystrophy，DMD）和贝氏进行性肌营养不良（Becker muscular dystrophy）等[1]。它是编码抗肌萎缩蛋白的基因突变引起的X连锁隐性遗传病。常見有3种突变类型：缺失突变、重复突变、微小突变，以缺失突变最常见，绝大多数是缺失1个或多个外显子[2-3]。这些突变改变基因的阅读框架，影响抗肌萎缩蛋白的合成，导致肌细胞的坏死、肌肉组织纤维化，造成肌无力[4]。通常在3～4岁开始发病，病情进展快，10余岁开始不能行走，一般20～30岁死于呼吸衰竭或心力衰竭[5]。……