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。
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.
作者
陈贤娥
陈琅
吴丽娟
林馨
CHEN Xian'e;CHEN Lang;WU Lijuan;LIN Xin(Department of Pediatrics,Fujian Provincial Hospital Affiliated to Fujian Medical University,Fuzhou 350001,China)
出处
《中国现代医生》
2020年第15期66-68,共3页
China Modern Doctor
关键词
进行性肌营养不良
抗肌萎缩蛋白
儿童
基因筛查
Progressive muscular dystrophy
Anti-dystrophin
Children
Genetic screening
