肯尼迪病的临床分析和分子遗传学诊断

Clinical characteristics of Kennedy disease and genetic mutation analysis

目的分析3例肯尼迪病的临床表现、电生理及遗传学特征。方法收集2018年11月-2019年7月本院收治的3例肯尼迪病患者的临床资料包括病史、体格检查、实验室检查、电生理等,检测患者及家族成员雄性激素受体(Androgen Receptor)基因的CAG重复数。结果 3例患者均中年男性,表现为四肢近端和延髓肌无力、肌束震颤萎缩、乳腺发育,缓慢发病,进行性加重。EMG均显示广泛神经源性损害,感觉神经传导存在异常。基因检测CAG重复数分别为43、51和51。结论肯尼迪病的临床特点为成年男性,肢体缓慢进行性无力,伴多肌肉萎缩、震颤,同时合并雄激素不敏感综合征, EMG呈运动神经源性损害的表现,CAG重复数显著增多。

Objective To analyze the clinical manifestations, electrophysiological and genetic characteristics of 3 cases of Kennedy’s disease.Methods Clinical data of 3 patients with Kennedy disease admitted to our hospital from November 2018 to July 2019 were collected, including medical history, physical examination, examination, electrophysiology, etc.Results There were middle-aged men, presenting with limb proximal and medullary weakness, muscle bundle tremor atrophy, breast development, slow onset, progressive aggravation in the three patients. EMG had extensive neurogenic damage and abnormal sensory nerve conduction. The CAG repeats were 43, 51 and 51, respectively.Conclusion The clinical features of Kennedy’s disease were adult males with slow and progressive limb weakness, multiple muscle atrophy, tremor, androgen insensitivity syndrome, EMG presenting motor neurogenic damage, and a significant increase in the number of CAG repeats.