中国人群线粒体脑肌病伴乳酸中毒和卒中样发作的临床 基因分型 肌肉病理及神经影像学特点分析  

Analysis of clinic,genotyping,muscle pathology and neuroimaging features of mitochondrial myopathy,encephalopathy,lactic acidosis and stroke like episodes in Chinese patients

作　　者：王琴 张中宝 宋志彬 何建丽 曾雅清 戚妹 WANG Qin;ZHANG Zhongbao;SONG Zhibin;HE Jianli;ZENG Yaqing;QI Mei(Xiaolan Hospital Affiliated to Southern Medical University,Zhongshan 528415,China)

机构地区：[1]南方医科大学附属小榄医院,广东中山528415

出　　处：《中国实用神经疾病杂志》2020年第7期557-564,共8页Chinese Journal of Practical Nervous Diseases

基　　金：中山市科技攻关计划(编号:2017B1046)。

摘　　要：目的总结归纳中国人群线粒体脑肌病伴乳酸中毒和卒中样发作(MELAS)的临床、基因分型、肌肉病理及神经影像学特点。方法通过计算机检索中国知网、万方、维普数据、PubMed、EMBase及The Cochrane Library数据库自建库至2019-01收录的中国人群MELAS综合征的临床、基因分型、肌肉病理及神经影像学特点的相关文献,筛选后提取文献中的一般信息,综合相关数据,回顾性分析既往关于中国人群MELAS综合征的临床、基因分型、肌肉病理及神经影像学方面特点。结果通过文献检索筛选后共纳入13篇研究文献,共计213例MELAS综合征患者,主要临床表现为癫痫66.67%(142/213)、卒中样发作64.32%(137/213)、头痛53.99%(115/213)、视力下降或偏盲或视幻觉39.91%(85/213)、认知障碍37.09%(79/213)、听力下降34.27%(73/213)、精神异常23.47%(50/213)、发热10.33%(22/213)、共济失调6.57%(14/213)、意识障碍3.29%(7/213)、眼外肌麻痹2.82%(6/213)。161例基因检测中mtDNA A3243G突变76.39%(123/161)、T3271C突变6.21%(10/161)、细胞色素C氧化单位基因突变1.86%(3/161),G13513A突变1.24%(2/161)、A3136G突变0.62%(1/161)、T3336C突变0.62%(1/161)、3314~3589之间的276 bp碱基缺失0.62%(1/161)、未检测到mtDNA突变12.42%(20/161)。177例肌肉组织病理检查MGT染色发现RRF阳性率高达94.29%(165/177)。头颅MR或CT检查阳性率为98.12%(209/213)。结论中国人群MELAS综合征主要临床表现依次为癫痫、卒中样发作、头痛,常见mtDNA突变类型为A3243G突变,肌肉MGT染色发现RRF阳性率及头颅MR检查阳性率高。Objective To summarize the clinical,genotyping,muscle pathology and neuroimaging features of mitochondrial myopathy,encephalopathy,lactic acidosis and stroke like episodes(MELAS)in Chinese patients.Methods A comprehensive electronic search was performed in CNKI,Wanfang Database,VIP Database,PubMed,EMBase and The Cochrane Library to retrieve relevant studies on the clinical,genotyping,muscle pathology and neuroimaging features of MELAS syndrome in Chinese patients from initiation of the datebases to January 2019.The general information and data were documented from relevant studies.Then we retrospectively analyzed the clinical,genotypic,muscular pathology,and neuroimaging features of MELAS syndrome in the Chinese patients.Resluts After screening through relevant searches,a total of 13 research articles were included,totaling 213 patients with MELAS syndrome.The main clinical manifestations include epilepsy 66.67%(142/213),stroke-like seizures 64.32%(137/213),headache 53.99%(115/213),decreased vision or hemianopia or visual hallucinations 39.91%(85/213),cognitive impairment 37.09%(79/213),hearing loss 34.27%(73/213),mental disorders 23.47%(50/213),fever 10.33%(22/213),ataxia 6.57%(14/213),disturbance of consciousness 3.29%(7/13),ophthalmoplegia 2.82%(6/213).161 patients underwent genetic testing,including mtDNA A3243G mutation 76.39%(123/161),T3271C mutation 6.21%(10/161),cytochrome C oxidative unit gene mutation 1.86%(3/161),G13513A mutation 1.24%(2/161),A3136G mutation 0.62%(1/161),T3336C mutation 0.62%(1/161),276bp base deletion between 3314-35890.62%(1/161),no mtDNA mutation detected12.42%(20/161).The RRF positive rate of MGT staining was 94.29%(165/177)in 177 cases underwent muscle histopathological examination.The positive rate of cranial MR or CT examination was 98.12%(209/213).Conclusion The main clinical manifestations are epilepsy,stroke-like episode,headache.The common mtDNA mutation type is A3243G mutation.The RRF positive rate of MGT staining and the positive rate of cranial MR examination are high.

关 键 词：MELAS综合征 乳酸中毒 卒中样发作 中国人群 临床特点 基因 肌肉病理 神经影像学 

分 类 号：R746[医药卫生—神经病学与精神病学]