肯尼迪病6例的临床、电生理及病理特点

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1、肯尼迪病6例的临床、电生理及病理特点[摘要]目的分析肯尼迪病的临床、电生理及病理特点。方法回顾性分析2012年1月～2015年12月济南军区总医院诊治的6例肯尼迪病患者的临床表现、实验室检查、电生理及肌肉病理检查。结果6例患者均为男性，发病年龄37～50岁，出现症状至确诊平均（7.2±0.1）年，主要以慢性进展的肢体近端及球部肌无力、肌萎缩、感觉障碍及内分泌系统受累为主要特征。X染色体雄激素受体基因第一外显子CAG重复序列均>35次。肌电图呈广泛慢性神经源性损害，并存在感觉神经动作电位波幅降低等感觉神经病变表现。血清肌酸激酶均增高。肌活检示肌纤维轻到重度萎缩，萎缩纤

2、维小角化、群组化分布。结论肌电图、肌肉活检对该病诊断有重要指导价值，基因检测为诊断该病金标准，目前缺乏有效治疗手段，雄激素剥夺等治疗方案仍在探索之中。[关键词]肯尼迪病；脊髓延髓肌肉萎缩症；雄激素受体；电生理[中图分类号]R746[文献标识码]A[文章编号]1673-7210（2016）04（b）-0129-05[Abstract]ObjectiveToinvestigatetheclinical，electrophysiologicalandmyopathologicalfeaturesofKennedy'sdisease（KD）.MethodsTheclinic

3、al，第12页共12页electrophysiologicalandmyopathologicaldataofsixpatientswithKennedydiseaseintheGeneralHospitalofJinanMilitaryCommandfromJanuary2012toDecember2015wereretrospectivelyanalyzed.ResultsAll6patientsweremale.Theageofsymptomsonsetvariedfrom37to50yearsold.Theaveragetimefromonsettodefi

4、nitediagnosiswere（7.2±0.1）years.Thetypicalclinicalfeatureswereslowlyprogressiveproximallimbandbulbarweakness，decreasedtendonreflex，muscularatrophy，ubiquitousfasciculationswithpredominanceonfacialmuscles，posturaltremorandandrogeninsensitivesymptomssuchasgynecomastia.Exceeded35CAGtandem-

5、repeatexpansionsintheexon1oftheandrogen-receptor（AR）geneonchromosomeXofallthecases.Electromyographyofallthe6casesshowedawiderangeofchronicneurogenicdamage，decreaseofsensorynerveactionpotentialamplitudeandretardationofsensorynerveconductionvelocity.Laboratoryexaminationrevealedanincreas

6、eofserumcreatinekinase.Musclebiopsyshowedmildtosevereatrophyofmusclefibers，andatrophicfibersingroups，clumpsandsmallangleshapes.ConclusionElectromyography，nerveelectrophysiologicalexaminationandmusclebiopsyhaveimportantguidingvaluestoKD'sdiagnosis，asgeneticdetectionofARgeneisagoldstanda

7、rd.Atpresent，第12页共12页thereisstillnoeffectivetherapeuticstrategy.Theclinicalvaluesofnoveltherapiessuchasandrogendeprivationneedmoreresearchwork.[Keywords]Kennedy'sdisease；Bulbo-spinalatrophy，X-linked；Androgenreceptors；Electromyography肯尼迪病（Kennedy'sdisease，KD），又称脊髓延髓肌肉萎缩症（spinalandbulb