一个肯尼迪病家系的临床特点及基因检测分析

发布时间：2018-03-16 01:33

本文选题：肯尼迪病　切入点：雄激素受体基因　出处：《南京医科大学学报(自然科学版)》2017年01期 　论文类型：期刊论文

【摘要】：目的:探讨肯尼迪病(Kennedy disease,KD)的发病机制、家族史、临床表现、特异性辅助检查及治疗方法。方法:收集1个肯尼迪家系的临床资料,分析患者的临床特点及辅助检查包括肌电图、肌活检、血睾酮、雄激素受体基因第1外显子的分子生物学检测结果。结果:该家系有3例患者,2例确诊,1例疑似,先证者外公有类似症状,但已去世未正规就诊,先证者及先证者姨表弟均为慢性病程,缓慢进展,临床表现为肢体(主要为近端)无力、肌肉萎缩的下运动神经元损害,肌电图均呈广泛神经源性损害,先证者姨表弟肌肉活检提示混合性肌损害,经基因检测二者的CAG重复序列数为49和51。结论:肯尼迪病的临床特点、辅助检查均有其独特的特点,确诊仍有赖于基因学的检测。
[Abstract]:Objective: to investigate the pathogenesis, family history, clinical manifestation, specific adjuvant examination and treatment of Kennedy disease KD.Methods: the clinical data of one Kennedy family were collected, and the clinical features and auxiliary examinations including electromyography were analyzed. Results: the results of molecular biological examination of exon 1 of the serum testosterone and androgen receptor gene. Results: there were 3 patients in this family, 2 patients were diagnosed and 1 was suspected. The proband grandfather had similar symptoms, but died without regular consultation. Both proband and cousin of proband showed chronic course of disease and slow progression. The clinical manifestations were weakness of limbs (mainly proximal), damage of inferior motor neurons in muscle atrophy, and extensive neurogenic damage in electromyography. Muscle biopsy of cousin of proband showed mixed muscle damage. The number of CAG repeats was 49 and 51.Conclusion: the clinical characteristics and auxiliary examination of Kennedy's disease all have their unique characteristics, and the diagnosis still depends on the detection of gene.
【作者单位】：淮安市淮阴医院神经内科;南京医科大学附属脑科医院神经内科;
【基金】：南京市医学重点科技发展项目(ZKX11002)
【分类号】：R741

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