中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2010年
35期
2498-2500
,共3页
谢曼青%李晓光%崔丽英%刘明生%李本红%赵燕环
謝曼青%李曉光%崔麗英%劉明生%李本紅%趙燕環
사만청%리효광%최려영%류명생%리본홍%조연배
肯尼迪病%雄激素受体基因%基因检测
肯尼迪病%雄激素受體基因%基因檢測
긍니적병%웅격소수체기인%기인검측
Kennedy disease%Androgen receptor gene%Genetic testing
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.
目的 總結肯尼迪病的臨床特點,以加彊對此病的認識,減少誤診漏診率.方法 收集于2005年7月至2008年9月于北京協和醫院門診及病房就診的12例男性下運動神經元病患者的外週血,提取基因組DNA,PCR擴增目的 基因後測序,收集暘性患者臨床資料,分析併總結其臨床特點.結果 經基因檢測確診的12例肯尼迪病患者的雄激素受體基因第一外顯子CAG重複序列均>40箇,波動在43~57箇.起病年齡與CAG重複箇數呈負相關(r=-0.756,P<0.005).12例患者均以肢體無力起病,病程進展緩慢,1例死亡患者病程達14年.結論 肯尼迪病是一種進展相對緩慢的神經繫統變性疾病,其遺傳方式、臨床及自然病程有顯著特點,確診要根據基因檢測結果.
목적 총결긍니적병적림상특점,이가강대차병적인식,감소오진루진솔.방법 수집우2005년7월지2008년9월우북경협화의원문진급병방취진적12례남성하운동신경원병환자적외주혈,제취기인조DNA,PCR확증목적 기인후측서,수집양성환자림상자료,분석병총결기림상특점.결과 경기인검측학진적12례긍니적병환자적웅격소수체기인제일외현자CAG중복서렬균>40개,파동재43~57개.기병년령여CAG중복개수정부상관(r=-0.756,P<0.005).12례환자균이지체무력기병,병정진전완만,1례사망환자병정체14년.결론 긍니적병시일충진전상대완만적신경계통변성질병,기유전방식、림상급자연병정유현저특점,학진요근거기인검측결과.
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.