CAJ | 학술논문

目的：探讨肯尼迪病的临床特点。方法对3例肯尼迪病患者的临床资料进行回顾性分析。结果3例患者均为中年男性。缓慢起病，表现为四肢近端和延髓肌无力、肌束颤，进行性加重；乳腺增生2例。血肌酸激酶均升高，睾酮水平升高2例。3例EMG均呈广泛神经源性损害，感觉神经传导异常2例。2例患者检测雄激素受体（ AR）基因第1外显子的CAG重复数，分别为57、47。结论肯尼迪病的临床特点为男性患者出现全身肌无力和雄激素不敏感综合征，EMG呈运动神经元损害的表现。 AR基因第1外显子的CAG重复数显著增多。
목적：탐토긍니적병적림상특점。방법대3례긍니적병환자적림상자료진행회고성분석。결과3례환자균위중년남성。완만기병，표현위사지근단화연수기무력、기속전，진행성가중；유선증생2례。혈기산격매균승고，고동수평승고2례。3례EMG균정엄범신경원성손해，감각신경전도이상2례。2례환자검측웅격소수체（ AR）기인제1외현자적CAG중복수，분별위57、47。결론긍니적병적림상특점위남성환자출현전신기무력화웅격소불민감종합정，EMG정운동신경원손해적표현。 AR기인제1외현자적CAG중복수현저증다。
Objective To explore the clinical features of Kennedy disease .Methods The clinical data of 3 patients with Kennedy disease was respectively analyzed .Results All three patients were middle-aged male and had a chronic onset .Patients were mainly presented with the muscle weakness and fasciculation in the proximal limb and bulbar , and the symptoms grow progressively .Two patients were hyperplasia of mammary glands , 3 patients had high levels of serum creatine kinase , and 2 patients'serum testosterone level was increased .EMG detected a widespread neuronal damage in all three cases , and the sensory conductions were abnormal in 2 patients.Repeat numbers of CAG in exon 1 of androgen receptor gene of 2 patients were tested, and they were 57, 47 respectively.Conclusions The clinical features of Kennedy disease are muscle weakness and androgen insensitivity syndrome in male patient and EMG presented with motor neuron damaged .Repeat number of CAG in exon 1 of androgen receptor gene is increased.