Kennedy病的临床特点及诊断(附3例报告)  

Clinical features and diagnosis of Kennedy disease——attaching three patients diagnosed through gene detection.

作　　者：庄立[1] 朱小泉[2] 杨泽[2] 王湘[1] 

机构地区：[1]卫生部北京医院神经内科,北京100730 [2]卫生部北京老年医学研究所遗传室

出　　处：《中国神经精神疾病杂志》2009年第7期402-404,共3页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的通过3例经基因检测明确诊断的Kennedy病患者,探讨Kennedy病的临床特点及诊断。方法根据临床症状、神经系统体征、肌电图和神经传导速度、家族史等特点,临床疑诊3例Kennedy病患者,并检测其雄激素受体基因第一个外显子的CAG重复片断。结果3例患者雄激素受体基因第一个外显子的CAG重复数分别为51、51、52,确诊Kennedy病。结论Kennedy病有相对独特的临床特点,确诊有赖于雄激素受体基因第一个外显子的CAG重复片段数的检测。Objective To discuss the clinical features and diagnosis of Kennedy disease. Methods Three patients were clinically diagnosed as having Kennedy disease on the basis of their clinical features including slowing progression of disease, symptoms, nervous system signs, electromyography and nerve conduction velocity results and family history. Their CAG number from the repetitive CAG sequence in the first exon of androgen receptor gene was determined using PCR. Results The numbers of CAG from the repeated CAG region of the first exon of androgen receptor gene were 51, 51, and 52 in patient 1,2, and 3, respectively. Conclusions Despite its relatively typical manifestations, the definite diagnosis of Kennedy＇s disease should be made by detecting the number of CAG from the repeat CAG region in the first exon of androgen receptor gene.

关 键 词：肌萎缩 脊髓性 雄激素 受体 重复序列 

分 类 号：R744.8[医药卫生—神经病学与精神病学] R741.041[医药卫生—临床医学]