肯尼迪病3例临床特征分析并文献复习
Clinical characteristics of Kennedy's disease:a report of three cases and literature review
柏亚真 1张登科 1杜敢琴 2富奇志2
作者信息
- 1. 河南科技大学临床医学院,河南科技大学第一附属医院,河南 洛阳 471003
- 2. 河南科技大学第一附属医院神经内科,河南 洛阳 471003
- 折叠
摘要
目的 分析讨论肯尼迪病(KD)临床特点.方法 收集河南科技大学第一附属医院神经内科收治的3例经基因检测确诊KD患者的临床表现、体格检查以及辅助检查等资料,结合既往文献对其临床特征进行归纳、总结.结果 3例患者均为男性,发病年龄43～46岁,以言语不清、进行性肢体无力、舌肌萎缩伴纤颤、乳腺发育为主要临床表现,实验室检查示肌酸激酶增高,性激素水平异常.肌电图提示广泛神经源性损害及运动和感觉神经均受累.雄激素受体(AR)基因检测CAG重复次数均>40.结论 KD是一种迟发性、遗传性运动神经元疾病,可累及多系统,临床表现多样,需基因检测确诊.
Abstract
Objective To explore the clinical characteristics of Kennedy's disease(KD).Methods We reported three cases of KD confirmed by genetic testing admitted to the Department of Neurology of The First Affiliated Hospital of Henan University of Science and Technology.Based on their clinical manifestations,physical examination results,and auxiliary examination data as well as previous literature,we analyzed and summarized the clinical features of KD.Results The three male KD patients were aged 43-46 years.They mainly manifested with progressive slurred speech,limb weakness,tongue muscle atrophy with tremor,and breast development.Creatine kinase levels were increased and sex hormone levels were abnormal in all the patients.Electromyography showed extensive neurogenic damage with involve-ment of both motor and sensory nerves.Genetic testing detected over 40 CAG repeats in the androgen receptor gene in all the cases.Conclusion KD is a late-onset inherited motor neuron disease,which can involve multiple systems to cause various clinical manifestations.Genetic testing is needed for a definite diagnosis.
关键词
肯尼迪病/脊髓延髓肌萎缩症/临床特征Key words
Kennedy's disease/Spinal and bulbar muscular atrophy/Clinical characteristics引用本文复制引用
基金项目
河南省重大科技专项(221100210500)
出版年
2024
国家科技期刊平台
NSTL
维普
万方数据