Kennedy病的临床、病理及AR基因分析一例

Clinical,pathological and genetic analysis of a Chinese patient with Kennedy disease

目的探讨Kennedy病(KD)的临床、病理及基因特点。方法对1例KD患者进行临床、电生理和病理检查。抽取该患者及4位家族成员外周静脉血并抽提其基因组DNA,采用PCR-DNA直接测序的方法进行AR基因分析。结果该患者临床表现为缓慢进行性四肢无力,伴有延髓麻痹、肌肉萎缩、肌束跳动、感觉障碍和男性乳房发育;血脂、肌酶升高;肌电图提示前角细胞损害,周围神经感觉及运动传导速度减慢;肌肉病理可见萎缩的肌纤维及肥大固缩的细胞核;AR基因分析发现患者第一外显子CAG重复突变,重复次数为43次,4位家族成员为19～23次。结论该例为散发性KD患者;KD临床表现不典型,肌电图和病理检查提示神经源性损害,确诊需行AR基因分析。

Objective To study the clinical,pathological and genetic characteristics of a Chinese patient with Kennedy disease(KD).Methods The clinical,electrophysiological and pathological data of the patient were analysed.Blood samples were collected from the patient and his 4 siblings.Mutation analysis of AR gene was made by means of DNA-direct sequencing.Results The patient mainly presented quadriplegia and accompanied with bulbar paralysis,musle atrophy,sensory disturbance and gynaecomastia,blood fat and crestase increased,Electroneurogram demonstrated sense and motor conductive velocity slowing and electromyogram demonstrated ventricornual motor neurons affecting.Atrophy muscle fibers were found by pathology examination.CAG repeat number of the first exon of AR gene of the patient is 43,but the CAG repeat numbers of his siblings were from 19 to 23.Conclusions A Chinese KD patient is found by AR gene mutation analysis.The symptoms of KD patient are not specifical,electroneurogram and pathology examination are benefical to the diagnosis of KD.AR gene mutation analys is the reliable method for KD diagnosis.