中风与神经疾病杂志2017，Vol.34Issue(9)：813-817,5.
肯尼迪病患者的临床表型与基因型分析
The clinical characteristics and gene mutation reports of Kennedy' s disease
摘要
Abstract
Objective To strengthen the understanding of KD and avoid delayed diagnosis ,we analyzed clinical ,la-boratory ,electrophysiological and genetic characteristics of KD cases .Methods Eight cases diagnosed by gene as KD pa-tients,were admitted for the study during January 2013 to April 2017.In this study,we analyzed the clinical manifestations , laboratory examination ,EMG and genetic characteristics and used ALSFRS as motor function scores for condition assess -ment.The correlation between clinical features and CAG repeat size was analyzed .Results Average age of onset was (36. 63 ±4.14) years and the average confirmed course were (12.13 ±3.44)years.Clinical features included medulla oblon-gata and spinal muscular atrophy and weakness in all eight cases ,limbs tremor、perioral muscles twitch and gynecomastia in six cases,sexual dysfunction in four cases .Some patients had increased endocrine symptoms and metabolic disorders .EMG detected a widespread neuronal damage in all cases ,and the sensory conductions were abnormal besides the motor conduc-tions.The CAG repeat number in AR gene was from 44 to 58,respectively.The copy number of ( CAG) n was negatively correlated with the onset age (r=-0.753,P=0.031) and the ALSFRS score (r=-0.733,P=0.039).The copy num-ber of (CAG) n was independent of CK level (r=0.250,P=0.550).Conclusion KD is mainly presented with spinal and bulbar muscle atrophy and weakness ,associated with endocrine and metabolic disturbance .The more copies,the early the onset and the lower the motor function score .The copy number of ( CAG) n is valuable for assessment of KD .关键词
肯尼迪病/基因诊断/临床特点/雄激素受体基因/肌萎缩侧索硬化症评分量表Key words
Kennedy's disease/Clinical features/Gene analysis/Androgen receptor gene/Amyotrophic lat-eral sclerosis rating scale分类
医药卫生引用本文复制引用
康健捷,邓兵梅,黎振声,杨红军,彭凯润,王伟民..肯尼迪病患者的临床表型与基因型分析[J].中风与神经疾病杂志,2017,34(9):813-817,5.基金项目
广东省医学科学技术研究基金项目(No.A2015084) （No.A2015084）
