肯尼迪病基因诊断及临床特点

Clinical features and genetic diagnosis of Kennedy disease

目的 总结肯尼迪病的临床特点,以加强对此病的认识,减少误诊漏诊率.方法 收集于2005年7月至2008年9月于北京协和医院门诊及病房就诊的12例男性下运动神经元病患者的外周血,提取基因组DNA,PCR扩增目的 基因后测序,收集阳性患者临床资料,分析并总结其临床特点.结果 经基因检测确诊的12例肯尼迪病患者的雄激素受体基因第一外显子CAG重复序列均＞40个,波动在43～57个.起病年龄与CAG重复个数呈负相关（r=-0.756,P＜0.005）.12例患者均以肢体无力起病,病程进展缓慢,1例死亡患者病程达14年.结论 肯尼迪病是一种进展相对缓慢的神经系统变性疾病,其遗传方式、临床及自然病程有显著特点,确诊要根据基因检测结果.

Objective To outline the clinical features of Kennedy disease in Chinese patients. Methods The peripheral blood was collected from the male lower motor neuron disease patients of our inpatients and outpatients from July 2005 to September 2008. Then the genome DNA was extracted and the target gene amplified by polymerase chain reaction and sequenced. The clinical data of positive samples were analyzed and summarized. Results The number of expanded CAG repeats of 12 patients ranged from 43 to 57. And the number of CAG repeats was inversely correlated with the age of onset （ r = -0. 756, P〈0. 005 ）. The first symptom of all of these patients was extremity weakness. The progression of disease was slow. One of the patients died from pneumonia. And the whole disease course lasted for 14 years. Conclusion As an adult onset degenerative disease with a slower clinical progression, Kennedy disease has its own characteristics of inheritance pattern and natural course. It can be accurately diagnosed by androgen receptor gene analysis.