线粒体脑病的研究进展  

Advances in mitochondrial encephalopathy

作　　者：黄红(综述) 邓义娟 史源[2] 马娟(审校) HUANG Hong;DENG Yijuan;SHI Yuan;MA Juan(Department of Pediatrics,North-Kuanren General Hospital,Chongqing 401121,China;Department of Neonatology,Children’s Hospital Affiliated to Chongqing Medical University/Ministry of Education Key Laboratory of Child Development and Disorders/National Clinical Research Center for Child Health and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆北部宽仁医院儿科,401121 [2]重庆医科大学附属儿童医院新生儿诊疗中心/儿童发育疾病研究教育部重点实验室/国家儿童健康与疾病临床医学研究中心/儿童发育重大疾病国家国际科技合作基地/儿科学重庆市重点实验室,400014

出　　处：《重庆医学》2022年第12期2136-2139,2144,共5页Chongqing medicine

摘　　要：线粒体是人体细胞内一个极为重要的细胞器,各种原因导致的线粒体结构和功能异常均可引起临床表现。线粒体脑病(ME)属于线粒体疾病中最为常见的一类疾病,其临床表现不一、诊断难度大、无明显特异性临床表现,易误诊。由于遗传分子学及影像学技术的发展,ME逐渐被学者们认知。本文对ME的遗传特点、临床表现、诊断和治疗管理等进行综述,以提高医生对ME的认知,减少误诊、漏诊。Mitochondria is a very important organelle in human cells.Abnormalities in the structure and function of mitochondria caused by various reasons can cause clinical manifestations.Mitochondrial encephalopathy(ME)is one of the most common diseases in mitochondrial diseases.It has different clinical manifestations,is difficult to diagnose,has no obvious specific clinical manifestations,and is easy to be misdiagnosed.Due to the development of genetic molecular and imaging techniques,ME has been gradually recognized by scholars.This article reviewed the genetic characteristics,clinical manifestations,diagnosis and treatment management of ME,in order to improve the recognition of ME and reduce misdiagnosis and missed diagnosis.

关 键 词：线粒体脑病 临床表现 诊断 遗传 治疗 综述 

分 类 号：R742[医药卫生—神经病学与精神病学]