[肯尼迪病的临床特征与基因诊断]
[Clinical features and genetic diagnosis of Kennedy disease].
作者信息
Xie Man-qing, Li Xiao-guang, Cui Li-ying, Liu Ming-sheng, Li Ben-hong, Zhao Yan-huan
机构信息
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100730, China.
出版信息
Zhonghua Yi Xue Za Zhi. 2010 Sep 21;90(35):2498-500.
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.
目的
概述肯尼迪病在中国患者中的临床特征。
方法
收集2005年7月至2008年9月我院住院及门诊男性下运动神经元病患者的外周血。然后提取基因组DNA，通过聚合酶链反应扩增靶基因并进行测序。对阳性样本的临床资料进行分析总结。
结果
12例患者的CAG重复序列扩展数在43至57之间。CAG重复序列数与发病年龄呈负相关（r = -0.756，P < 0.005）。所有这些患者的首发症状均为肢体无力。疾病进展缓慢。其中1例患者死于肺炎。整个病程持续14年。
结论
肯尼迪病作为一种成年发病、临床进展较慢的退行性疾病，具有自身的遗传模式和自然病程特点。通过雄激素受体基因分析可准确诊断。
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