Kennedy病的临床、电生理及病理特征分析(附2例报道)  

The clinical,neurophysiological and neuropathological characteristics of Kennedy disease—attaching two patients diagnosed by genetic analysis

作　　者：汪仁斌[1] 刘尊敬[1] 董明睿[1] 郝莹[1] 汪伟[1] 毛坤[1] 孙少杰[1] 严莉[1] 

机构地区：[1]卫生部中日友好医院神经内科,100029

出　　处：《中国神经免疫学和神经病学杂志》2012年第4期273-276,共4页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的探讨Kennedy病的临床、神经电生理及病理特征。方法报道2例经基因确诊的Kennedy病患者,分析其临床症状、体征、肌电图和神经传导检查和神经病理等特点。结果两例患者均中年发病,进展缓慢。神经系统表现为以肢体近端无力和延髓受累为主的下运动神经元瘫痪。血清性激素水平正常,但有男性乳腺发育等雄激素功能低下表现。血清肌酸激酶轻度升高。肌电图呈广泛神经源性损害,神经传导检查提示感觉神经动作电位波幅减低,H反射异常,神经活检提示大的有髓纤维减少。雄激素受体基因编码区CAG重复数大于40。结论 Kennedy病有相对独特的临床、电生理及病理特征,确诊有赖于雄激素受体基因编码区CAG重复数的检测。Objective To discuss the clinical, neurophysiological and neuropathological characteristics of patients with Kennedy disease （KD）. Methods Two patients with KD diagnosed by gene detection were reported, and their clinical features, the results of electromyography and nerve conduction study and the biopsy of sural nerve were analyzed. Results The symptoms of KD patients initiated in middle age, presented with a slow progression of lower motor neuron weakness and atrophy, involving bulbar and proximal limb muscles. Gynecomastia due to androgen insensitivity was probably the most common non-neurological manifestation, even though their sexual hormone levels were in normal range. There might be mild to severe hyper-CK-emia. Needle electromyography （EMG） showed extensive chronic denervation and reinnervation, nerve conduction studies revealed reduced sensory nerve action potential （SNAP） amplitudes, and abnormal H reflexes. There was a loss of large myelinated fiber in nerve biopsy. The number of CAG repeats for the coding region of androgen receptor gene exceeds 40. Conclusions There are relatively unique clinical, neurophysiological and neuropathological characteristics of KD, and its definite diagnosis should be made by genetic analysis.

关 键 词：肌萎缩 雄激素受体 感觉神经 肌酸激酶 基因检测 

分 类 号：R744.8[医药卫生—神经病学与精神病学]