CAJ | 학술논문

目的：探讨Kennedy病的临床、电生理及遗传学特点。方法对4例Kennedy病患者的临床资料进行回顾性分析。结果4例患者均为中年男性，缓慢起病。首发症状为双下肢无力2例，咀嚼肌无力2例。主要临床表现为四肢进行性无力，肌肉萎缩，下肢相对较重，进展缓慢；4例患者均有肌束震颤，舌肌萎缩；乳房女性化3例，性功能减退2例。4例均有血清肌酸激酶增高，3例血脂增高、性激素水平升高，1例甲状腺功能异常。 EMG表现为广泛的神经源性损害。4例患者的雄激素受体基因第一外显子CAG重复数为45～52。结论 Kennedy病是相对进展缓慢的四肢近端、延髓肌受累，以及内分泌和代谢异常的遗传性神经系统变形疾病，本病的确诊有赖于雄激素受体基因第一外显子CAG重复数的检测。
목적：탐토Kennedy병적림상、전생리급유전학특점。방법대4례Kennedy병환자적림상자료진행회고성분석。결과4례환자균위중년남성，완만기병。수발증상위쌍하지무력2례，저작기무력2례。주요림상표현위사지진행성무력，기육위축，하지상대교중，진전완만；4례환자균유기속진전，설기위축；유방녀성화3례，성공능감퇴2례。4례균유혈청기산격매증고，3례혈지증고、성격소수평승고，1례갑상선공능이상。 EMG표현위엄범적신경원성손해。4례환자적웅격소수체기인제일외현자CAG중복수위45～52。결론 Kennedy병시상대진전완만적사지근단、연수기수루，이급내분비화대사이상적유전성신경계통변형질병，본병적학진유뢰우웅격소수체기인제일외현자CAG중복수적검측。
Objective To explore the clinical , electrophysiological and gentics features of Kennedy disease . Methods Clinical data of 4 patients with Kennedy disease were analyzed retrospectively .Results All of 4 patients were young middle-aged men with chronic onset .The initial symptom was weakness of lower limbs in 2 cases,and was weakness of masticatory muscles in another 2 cases.The main manifestations were progressive weakness of limbs and muscular atrophy ,lower limbs were relatively serious ,and the disease progresses slowly;all of them have fasciculation and tongue muscles alrophy;and barymastia in 3 cases,sexual function decrement in 2 cases.All of them had elevated serum creatine kinase , and 3 cases with abnormal lipid metabolism and elevated sex hormone levels .One of them complicated with thyr oid dysfunction .EMG showed a wide range of neurogenic damage .The CAG repeat in androgen receptors gene were range from 45 to 52.Conclusions Kennedy disease is a relatively slow progressed hereditary neurodegenerative disease , which most commonly involves proximal limbs and bulbar muscles and with endocrine and metabolic disorders .The definite diagnosis of this disease depends on detecting the number of CAG repeat of androgen receptor gene .