摘要
目的:分析29例Duchenne型肌营养不良(Duchenne muscular dystrophy,DMD)的临床表现和基因分型,为早期诊断提供可靠方法。方法:纳入2011年1月至2016年12月于我院基因明确诊断DMD的患儿共29例,回顾性分析其临床表现,包括肌力、运动功能、肌酸激酶和心电图、肌电图、心功能,同时通过多重连接依赖式探针扩增(multiplex ligation-dependent probe amplification,MLPA)和第二代基因测序技术的方法进行基因分析。结果:DMD以男性发病为主,多隐匿起病,进行性肌无力,近端重于远端,伴腓肠肌肥大,10~12岁左右失去运动能力,并逐渐出现心肺功能下降。29例患儿肌酸激酶均明显升高,肌电图示肌源性损害。29例患儿均进行MLPA及二代测序检测,其中19例为外显子缺失(65.52%),5例为外显子重复(17.24%),5例为点突变(17.24%),新发突变占37.93%。结论:认识DMD的临床特点,及时进行基因检查,有助于提高该病的临床诊断水平,早期合理治疗,可避免误诊误治,并有利于遗传咨询。
Objective： To analyze the clinical manifestations and genotyping of 29 cases of Duchenne muscular dystrophy （DMD）; and to provide a reliable method for early diagnosis. Methods： A retrospective analyze was made in the clinical manifestations of 29 children diagnosed as DMD in our hospital from January 2011 to December 2016, including muscle strength, motor function, creatine kinase and ECG, electromyography and cardiac function. Gene analysis was conducted through multiplex ligafion-dependent probe amplification （MLPA） and second-generation sequencing technology. Results： DMD was a male-doininated disease. It showed clinical manifestations of most hidden onset, progressive myasthenia, heavy symptoms at the proximal end compared with the distal end, the gastrocneinius muscle hyperlrophy, the loss of motor abilily around 10-12 years old, and the gradual decline of cardiopuhnonary function. Creatine kinase was elevated, and electromyography showed myogenic damage in 29 cases. They all received MLPA and second-generation sequencing detection, including 19 cases of missing exons （65.52%）, 5 cases of repeated exons （ 17. 24% ）, 5 cases of point mutations （17.24%） and 11 cases of new mutations （37.93 % ）. Conclusion： Understanding the clinical features of DMD and carrying out gene examination timely is useful for the improvement of clinical diagnosis, early reasonable treatment, the avoidance of misdiagnosis and mistreatment, and genetic counseling of this disease.
作者
王燕娟
胡文广
刘平
邓佳
赵力立
WANG Yanjuan;HU Wenguang;LIU Ping;DENG Jia;ZHAO Lili(Chengdu Women and Children＇s Central Hospital,Chengdu,Sichuan 610091,China)
出处
《现代临床医学》
2018年第4期289-291,293,共4页
Journal of Modern Clinical Medicine
