Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (2): 54-59.doi: 10.6040/j.issn.1671-7554.0.2021.1195

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Mitochondrial myopathy beginning with respiratory failure: one case and literature review

PAN Pengfei1, XU Lisheng2, JI Kunqian3, WANG Dexiang2, LI Yu2   

  1. 1. Cheeloo College of Medicine of Shandong University, Jinan 250012, Shandong, China;
    2. Department of Pulmonary and Critical Care Medicine Department, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China;
    3. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2022-01-25

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

CLC Number: 

  • R563.8
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