5例肯尼迪病患者临床特征与基因突变分析

Clinical manifestations and gene mutations analysis of five patients with Kennedy's disease

目的研究5例肯尼迪病患者的临床特征和基因突变。方法收集2009年9月—2020年3月本院神经内科收治的5例肯尼迪病患者的临床资料,分析其临床特点、实验室检查、肌电图、神经电生理和基因特点。采用聚合酶链反应和毛细管电泳法检测雄激素受体基因突变。结果来自4个家系的5例患者均为男性,发病年龄20-40岁,平均(28.60±7.68)岁。所有患者均有典型的神经系统表现,如缓慢起病、进行性无力、肌肉萎缩等。所有患者血清肌酸激酶轻中度升高,肌电图检查提示神经源性异常。部分患者有男性乳腺发育、空腹血糖、血脂水平升高等非神经系统表现。结论AR基因第一外显子的CAG重复扩增可导致汉族男性肯尼迪病患者具有典型的临床表现。目前肯尼迪氏病的诊断仍依赖于基因检测。

Objective To investigate the clinical featuresandgene mutations of 5 patients with Kennedy's disease.Methods The clinical data of five patients with Kennedy's disease those were admitted to the department of neurology,the first affiliated hospital of Anhui University of Science and Technology from 2009 to 2020 were collected.The clinical features,laboratory tests,electromyography,neuroelectrophysiology,and genetic characteristics were analyzed.Mutation of the androgen receptor gene was detected by polymerase chain reaction and capillary electrophoresis.Results The five patients from 4 families were all males,onset ages ranging from 20 to 40 years,the average onset age was 28.60±7.68 years.All patients showed typical neurological manifestations,such as slow onset,progressive weakness,and muscle atrophy.Serum creatine kinase was mild to moderately elevated in all patients.The electromyogram showed neurogenic abnormalities.Some patients have non-neurological manifestations,such as gynecomastia,elevated fasting blood glucose,and lipid levels.Conclusions The expansions of a CAG repeat in exon 1 of the androgen receptor gene can lead to typical clinical manifestations of Han male patients with Kennedy's disease.Currently,the diagnosis of Kennedy's disease still depends on genetic testing.