5例肯尼迪病患者的临床特征和电生理特点

Clinical and electrophysiological features of Kennedy’s disease: a report of 5 cases

目的探讨肯尼迪病(KD)的临床表现和神经电生理特点。方法收集2013年4月—2017年4月本院收治的5例基因确诊的肯尼迪病患者的临床资料,分析其临床表现、实验室检查结果和神经电生理特点。结果 5例患者均为男性,平均发病年龄(51.4±13.8)岁,进展缓慢,主要表现为肢体近端和延髓支配肌肉进行性无力、萎缩、束颤,伴有雄激素不敏感综合征、感觉障碍和内分泌代谢异常。血清肌酸激酶均升高。肌电图呈慢性广泛神经源性损害,伴感觉神经动作电位(SNAP)波幅下降、感觉神经传导速度(SCV)减慢等感觉神经损害的表现。雄激素受体(AR)基因第一外显子CAG重复序列次数42~49次。结论肯尼迪病有特征性的临床表现、血清学检查和神经电生理特点,有助于早期诊断和鉴别诊断,但基因检测为确诊的金标准。目前缺乏有效的治疗手段,更主要的在于预防并发症。

Objective To explore the clinical and electrophysiological features of Kennedy’s disease(KD).Methods The clinical data of 5 genetically confirmed KD patients was collected and analyzed,including clinical manifestations,laboratory findings,and electromyography(EMG)characteristics.Results All the 5 patients were male,with an average onset age of 51.4±13.8 years old,the disease was slowly progressed.The main clinical manifestations were progressive muscle weakness,atrophy and fibrillation in the proximal and medulla oblongata innervated muscles,accompanied by androgen insensitivity syndrome,sensory disturbance and abnormal endocrine metabolism.The serum creatine kinase level in all patients was elevated.EMG showed widespread chronic neurogenic damage,the amplitude of sensory nerve action potential(SNAP)and conduction velocity of sensory nerve(SCV)were reduced.42 to 49 CAG tandem-repeat expansions of the first exon of the AR gene were detected.Conclusions KD has characteristic clinical manifestations,serological examination and electrophysiological features,which are helpful for early diagnosis and differential diagnosis,but genetic testing is the gold standard for its diagnosis.At present,there is a lack of effective therapeutic strategy,and the main focus is to prevent the complications from occurring.