1个肯尼迪病家系临床与分子遗传学特征

The clinical and molecular genetics studies of a family with Kennedy disease

目的探讨肯尼迪病的临床特点及分子遗传学特征。方法收集1个肯尼迪病家系的临床资料,分析患者的临床表现、血清雄激素、肌酶水平、神经电生理检查结果及雄激素受体基因第1外显子的分子生物学特点。结果该家系患者均青年起病,缓慢进展,表现为肢体无力、不自主抖动及肌肉萎缩等下运动神经元损害特点,其中除先证者未婚外家族中其他患者均正常生育,先证者的弟弟肌酸肌酶水平增高,先证者及其弟弟经肌电图检查均呈神经源性损害。经基因检测先证者及其弟弟的雄激素受体的CAG基因重复次数均为50次。结论肯尼迪病主要表现为下运动神经元损害并伴有感觉障碍,基因学检测是肯尼迪病的确诊依据。

Objective To study the pathogenesis,molecular genetics,and clinical features of Kennedy disease.Methods The clinical features,electrophysiological characters,serum testosterone,creatine kinase levels and the first exon of androgen receptor are analyzed in a family with Kennedy disease.Results The onset age was young in this family and the disease developed slowly.Clinical symptoms are mainly presented as the lower motor neuron damage including muscle weakness,limbs twitching and muscle atrophy.While the pro-positus was unmarried,other patients in the family were all normal fertile.The creatine kinase level is significantly above normal in one younger brother of the propositus.The electromyography suggests that the muscle fibers are denervated.The CAG repeat number in AR gene were 50 times in the propositus and his younger brother.Conclusions Kennedy disease is mainly presented as spinal and bulbar muscle atrophy and weakness.The Kennedy disease should be diagnosed by genetic test.