线粒体脑肌病伴高乳酸血症和卒中样发作的诊断与治疗策略  

Diagnostic and therapeutic strategies for mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

作　　者：林岩 纪坤乾 赵玉英[1] LIN Yan;JI Kun-qian;ZHAO Yu-ying(Department of Neurology,Qilu Hospital of Shandong University,Shandong Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院神经内科,山东济南250012

出　　处：《内科急危重症杂志》2024年第3期200-205,共6页Journal of Critical Care In Internal Medicine

基　　金：山东省自然科学基金面上项目(ZR2021MH170)。

摘　　要：线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)是线粒体病最常见的临床亚型。MELAS的临床表现包括卒中样发作、头痛、癫痫、肌无力等,同时还可伴有多系统受累的表现,从而呈现出高度异质性。诊断需结合详细准确的病史、家族史,以及病理、生化和基因检测的结果。治疗需要多学科综合管理,包括药物治疗和营养运动干预。本文总结了MELAS的诊断和治疗方法,旨在帮助临床医生更全面地理解MELAS,从而做到早期诊断并规范化治疗以改善患者长期预后。Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS)represent the most common clinical subtype of mitochondrial disorders.The clinical manifestations of MELAS include stroke-like episodes,headaches,epilepsy,and muscle weakness while also exhibiting significant heterogeneity through multi-system presentations.Diagnosis necessitates a comprehensive approach involving detailed medical history,accurate family history assessment,and pathological,biochemical,and genetic testing results.Treatment requires a multidisciplinary approach,encompassing pharmacotherapy and nutritional and exercise interventions.This article provides an overview of the diagnostic and therapeutic strategies for MELAS to aid clinicians in gaining a comprehensive understanding of this condition and facilitating early diagnosis and standardized treatment to improve the long-term prognosis of patients.

关 键 词：线粒体脑肌病 高乳酸血症 卒中样发作 诊断 治疗 

分 类 号：R746[医药卫生—神经病学与精神病学]