Kennedy病的临床特点及诊断

目的通过1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、家族史等特点对临床疑诊Kennedy病患者，检测其雄激素受体基因第1个外显子的CAG重复片断。结果本病病程进展缓慢，肌酶和血睾酮增高，肌电图示神经源性损害，雄激素受体基因第1个外显子的CAG重复数为51。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1个外显子的CAG重复片段数的检测。

Clinical Features and Diagnosis of Kennedy's Disease

ObjectiveTo explore the clinical features and diagnosis of one Kennedy's disease.MethodsOne patient was clinically diagnosed as Kennedy's disease on the basis of the clinical features including slowing progression of disease, symptoms, nervous system signs, electromyography and nerve conduction velocity results and family history. His CAG number from the repetitive CAG sequence in the first exon of androgen receptor gene was determined using PCR.ResultsThe progression of Kennedy's disease is usually much slower. The CPK and testosterone levels increased in patient. EMG revealed neurogenic injury. The numbers of CAG region of the first exon of androgen receptor gene were 51 in the patient.ConclusionDespite its relatively typical manifestations, the definite diagnosis of Kennedy's disease should be made by detecting the number of CAG from the repetitive CAG region in the first exon of androgen receptor gene.