肯尼迪病6例的临床、电生理及病理特点

Clinical, electrophysiological and myopathological features of Kennedy's disease

目的分析肯尼迪病的临床、电生理及病理特点。方法回顾性分析2012年1月-2015年12月济南军区总医院诊治的6例肯尼迪病患者的临床表现、实验室检查、电生理及肌肉病理检查。结果 6例患者均为男性,发病年龄37-50岁,出现症状至确诊平均（7.2±0.1）年,主要以慢性进展的肢体近端及球部肌无力、肌萎缩、感觉障碍及内分泌系统受累为主要特征。X染色体雄激素受体基因第一外显子CAG重复序列均〉35次。肌电图呈广泛慢性神经源性损害,并存在感觉神经动作电位波幅降低等感觉神经病变表现。血清肌酸激酶均增高。肌活检示肌纤维轻到重度萎缩,萎缩纤维小角化、群组化分布。结论肌电图、肌肉活检对该病诊断有重要指导价值,基因检测为诊断该病金标准,目前缺乏有效治疗手段,雄激素剥夺等治疗方案仍在探索之中。

Objective To investigate the clinical, electrophysiological and myopathological features of Kennedy＇s disease（KD）. Methods The clinical, electrophysiological and myopathological data of six patients with Kennedy disease in the General Hospital of Jinan Military Command from January 2012 to December 2015 were retrospectively analyzed.Results All 6 patients were male. The age of symptoms onset varied from 37 to 50 years old. The average time from onset to definite diagnosis were（7.2±0.1） years. The typical clinical features were slowly progressive proximal limb and bulbar weakness, decreased tendon reflex, muscular atrophy, ubiquitous fasciculations with predominance on facial muscles, postural tremor and androgen insensitive symptoms such as gynecomastia. Exceeded 35 CAG tandem-repeat expansions in the exon 1 of the androgen-receptor（AR） gene on chromosome X of all the cases. Electromyography of all the 6cases showed a wide range of chronic neurogenic damage, decrease of sensory nerve action potential amplitude and retardation of sensory nerve conduction velocity. Laboratory examination revealed an increase of serum creatine kinase.Muscle biopsy showed mild to severe atrophy of muscle fibers, and atrophic fibers in groups, clumps and small angle shapes. Conclusion Electromyography, nerve electrophysiological examination and muscle biopsy have important guiding values to KD＇s diagnosis, as genetic detection of AR gene is a gold standard. At present, there is still no effective therapeuticstrategy. The clinical values of novel therapies such as androgen deprivation needmore research work.