以呼吸衰竭起病的线粒体肌病1例及文献回顾

doi:10.6040/j.issn.1671-7554.0.2021.1195

摘要/Abstract

摘要： 目的分析以呼吸衰竭起病的线粒体肌病患者的临床特点、诊断及治疗。方法对1例以呼吸衰竭起病的线粒体肌病患者进行资料收集和分析,检索病例报道并回顾文献。结果共检索出12例以Ⅱ型呼吸衰竭起病的患者,其中男性7例,女性5例,发病年龄为16~70岁;8例患者乳酸升高,4例患者肌酸激酶升高;1/3患者的肌电图未见异常,50%患者检测到线粒体DNA A3243G突变,结合患者临床表现及肌肉活检病理可确诊线粒体肌病。目前无特效治疗方式。结论临床中不明原因的Ⅱ型呼吸衰竭需要考虑线粒体肌病的可能性。

关键词: 线粒体肌病, 呼吸衰竭, 基因突变, 诊断, 治疗

Abstract: Objective To analyze the clinical characteristics, diagnosis, and treatment strategies of patients with mitochondrial myopathy beginning with respiratory failure. Methods A case of mitochondrial myopathy beginning with respiratory failure was analyzed, previous case reports were retrieved, and the literature was reviewed. Results Twelve patients onset of type Ⅱ respiratory failure were retrieved, of which seven were males and five were females, with the age of onset ranging from 16 to 70 years old. Eight patients had elevated lactic acid, and four patients had elevated creatine kinase. One-third of the patients have normal electromyogram. The A3243G mutation in mitochondrial DNA was detected in 50% of patients. Mitochondrial myopathy could be diagnosed by combining the patients clinical manifestations and muscle biopsy pathology. There was currently no specific treatment. Conclusion In clinical type Ⅱ respiratory failure of unknown cause, the possibility of mitochondrial myopathy needs to be considered.

Key words: Mitochondrial myopathy, Respiratory failure, Gene mutation, Diagnosis, Treatment

中图分类号:

R563.8

潘鹏飞,徐立升,纪坤乾,王得翔,李玉. 以呼吸衰竭起病的线粒体肌病1例及文献回顾[J]. 山东大学学报 (医学版), 2022, 60(2): 54-59.

PAN Pengfei, XU Lisheng, JI Kunqian, WANG Dexiang, LI Yu. Mitochondrial myopathy beginning with respiratory failure: one case and literature review[J]. Journal of Shandong University (Health Sciences), 2022, 60(2): 54-59.

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