中国线粒体脑肌病伴高乳酸血症和卒中样发作的诊治专家共识  

Chinese expert consensus on diagnosis and treatment of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

作　　者：无 王朝霞[4] 袁云[5] 焉传祝[6] 蒲传强[7] 崔丽英[8] 无;Yuan Yun;Yan Chuanzhu;Pu Chuanqiang;Cui Liying(Rare Diseases Branch of Beijing Medical Association;Neuromuscular Division of Neurology Branch of Beijing Medical Association;China National Research Collaborative Group on Mitochondrial Disease;Department of Neurology,Peking University First Hospital,Beijing 100034,China;Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,China;Department of Neurology,People,s Liberation Army General Hospital,Beijing 100853,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]北京医学会罕见病分会 [2]北京医学会神经内科分会神经肌肉病学组 [3]中国线粒体病协作组 [4]北京大学第一医院 [5]北京大学第一医院神经内科,100034 [6]山东大学齐鲁医院神经内科,济南250012 [7]解放军总医院神经内科,北京100853 [8]中国医学科学院北京协和医院神经科,100730

出　　处：《中华神经科杂志》2020年第3期171-178,共8页Chinese Journal of Neurology

基　　金：北京市科技计划(Z151100003915126)。

摘　　要：线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)是一种由线粒体基因或核基因突变导致的,以卒中样发作、癫痫发作、认知与精神障碍、高乳酸血症、肌肉疲劳无力为主要临床特点的多系统代谢性疾病,其临床、病理特点和治疗策略具有一定的特殊性。为规范该病的诊治,结合国内外对该病的研究进展,专家组经反复讨论、修订,撰写了中国MELAS的诊治专家共识,从临床表现、家族史、辅助检查、诊断和鉴别诊断、治疗和护理、遗传咨询几大方面总结了该病的特点,供广大临床和科研工作者参考。Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS)is one of the most commonly recognized mitochondrial disorders with multisystem involvement,associated with genetic defect in mitochondrial genes or nuclear genes.The main clinical manifestations of MELAS include stroke-like episodes,seizures,cognitive and mental impairment,lactic acidosis and exercise intolerance.MELAS has its own specialty in the clinical and pathological features,and treatment strategies.To provide recommendations for optimal management of MELAS,the experts panel achieved the Chinese experts consensus on diagnosis and treatment of MELAS through in-depth and detailed discussion and revision.This consensus summarizes the characteristics of MELAS,covering clinical manifestations,inheritance,diagnosis approaches,medical treatment and nursing,and genetic counseling,based on comprehensive review of literature.The consensus is intended for the clinical and scientific research workers who are engaged in mitochondrial diseases.

关 键 词：MELAS综合征 诊断 治疗学 共识 

分 类 号：R74[医药卫生—神经病学与精神病学]