临床神经病学杂志
臨床神經病學雜誌
림상신경병학잡지
Journal of Clinical Neurology
2015年
5期
377-379
,共3页
Kennedy病%线粒体功能异常%戊二酸尿症Ⅱ型
Kennedy病%線粒體功能異常%戊二痠尿癥Ⅱ型
Kennedy병%선립체공능이상%무이산뇨증Ⅱ형
Kennedy disease%mitochondrial dysfunction%glutaric aciduria type Ⅱ
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.
目的 探討Kennedy病伴肌肉線粒體功能異常和戊二痠尿癥Ⅱ型的臨床特點. 方法 迴顧性分析1例Kennedy病伴肌肉線粒體功能異常和戊二痠尿癥Ⅱ型患者的臨床資料. 結果 本例患者錶現為四肢近耑無力、肌束震顫、毬痳痺、肌萎縮、姿勢性震顫、感覺障礙、男性乳房髮育、暘萎. 患者血肌痠激酶和尿戊二痠升高. EMG和神經肌肉活檢支持混閤性週圍神經病變,骨骼肌神經源性和繼髮肌源性改變. X染色體CAG重複擴增47次. 患者髮病7年後確診為糖尿病. 結論 Kennedy病的髮病機製十分複雜,肌源性因素可能參與其中. 對患者肌肉組織繼髮性線粒體和脂質代謝異常進行榦預,一定程度上可改善肌無力癥狀.
목적 탐토Kennedy병반기육선립체공능이상화무이산뇨증Ⅱ형적림상특점. 방법 회고성분석1례Kennedy병반기육선립체공능이상화무이산뇨증Ⅱ형환자적림상자료. 결과 본례환자표현위사지근단무력、기속진전、구마비、기위축、자세성진전、감각장애、남성유방발육、양위. 환자혈기산격매화뇨무이산승고. EMG화신경기육활검지지혼합성주위신경병변,골격기신경원성화계발기원성개변. X염색체CAG중복확증47차. 환자발병7년후학진위당뇨병. 결론 Kennedy병적발병궤제십분복잡,기원성인소가능삼여기중. 대환자기육조직계발성선립체화지질대사이상진행간예,일정정도상가개선기무력증상.
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.
