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
林岩 1纪坤乾 1赵玉英1
作者信息
- 1. 山东大学齐鲁医院神经内科,山东济南 250012
- 折叠
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.
Abstract
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 phar-macotherapy 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 diagno-sis 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Key words
Mitochondrial encephalomyopathy/Lactic acidosis/Stroke-like episodes/Diagnosis/Treatment引用本文复制引用
基金项目
山东省自然科学基金面上项目(ZR2021MH170)
出版年
2024
NETL
NSTL
万方数据