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） |
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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. |
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