北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科  > 期刊论文
学科主题: 神经病学
题名:
Kennedy病伴肌肉线粒体功能异常和戊二酸尿症Ⅱ型的临床特点(附1例报告)
其他题名: Clinical features of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ(report of 1 case)
作者: 白静; 吕鹤
关键词: Kennedy病 ; 线粒体功能异常 ; 戊二酸尿症Ⅱ型 ; Kennedy disease ; mitochondrial dysfunction ; glutaric aciduria type Ⅱ
刊名: 临床神经病学杂志
发表日期: 2015
卷: 28, 期:5, 页:377-379
收录类别: 中国科技核心期刊 ; 中文核心期刊
文章类型: Journal Article
摘要: 目的 探讨Kennedy病伴肌肉线粒体功能异常和戊二酸尿症Ⅱ型的临床特点. 方法 回顾性分析1例Kennedy病伴肌肉线粒体功能异常和戊二酸尿症Ⅱ型患者的临床资料. 结果 本例患者表现为四肢近端无力、肌束震颤、球麻痹、肌萎缩、姿势性震颤、感觉障碍、男性乳房发育、阳萎. 患者血肌酸激酶和尿戊二酸升高. EMG和神经肌肉活检支持混合性周围神经病变,骨骼肌神经源性和继发肌源性改变. X染色体CAG重复扩增47次. 患者发病7年后确诊为糖尿病. 结论 Kennedy病的发病机制十分复杂,肌源性因素可能参与其中. 对患者肌肉组织继发性线粒体和脂质代谢异常进行干预,一定程度上可改善肌无力症状. Objective To investigate the clinical characteristics of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ.Methods The clinical data of 1 case Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡwas retrospectively analyzed.Results The patient presented muscle weakness in proximal limbs, fasciculation, bulbar palsy, amyotrophy, postural tremor, sensory disturbance, gynaecomastia, impotency.The level of serum creatine kinase and urinary glutaric acid were elevated. Electromyogram and nerve and muscle biopsy supported mixed damage in peripheral nerves, as well as neurogenic and secondary myogenic pathologic changes in muscles.Gene sequencing indicated trinucleotide CAG repeated amplification for 47 times in chromosome X.Diabetes was diagnosed at 7 years after onset.Conclusions The pathogenesis of Kennedy disease is very complex, which may involve myogenic factor.The treatment to the secondary mitochondrial and lipid metabolic disturbance in muscle can improve the muscle weakness to a certain extent.
语种: 中文
原文出处: 查看原文
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/40869
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 100034,北京大学第一医院神经内科
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[白静]'s Articles
[吕鹤]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[白静]‘s Articles
[吕鹤]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit
所有评论 (0)
暂无评论
 
评注功能仅针对注册用户开放,请您登录
您对该条目有什么异议,请填写以下表单,管理员会尽快联系您。
内 容:
Email:  *
单位:
验证码:   刷新
您在IR的使用过程中有什么好的想法或者建议可以反馈给我们。
标 题:
 *
内 容:
Email:  *
验证码:   刷新

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace