• 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
  • 林岩.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[J].内科急危重症杂志,2024,30(3):200-205
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    DOI:10.11768/nkjwzzzz20240302
    中文关键词:  线粒体脑肌病  高乳酸血症  卒中样发作  诊断  治疗
    英文关键词:
    基金项目:山东省自然科学基金面上项目(ZR2021MH170)
    作者单位
    林岩 山东大学齐鲁医院 
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    中文摘要:
          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。
    英文摘要:
          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 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.