关键词: A3243G mutation Acute respiratory failure Difficulty in weaning Mitochondrial myopathy Severe pneumonia

来  源:   DOI:10.1016/j.heliyon.2023.e23300   PDF(Pubmed)

Abstract:
UNASSIGNED: Mitochondrial myopathy is a group of diseases caused by abnormal mitochondrial structure or function. The mitochondrial myopathy impacts muscles of the whole body and exhibits variable symptoms. Respiratory muscle deficits deteriorate pulmonary function in patients with severe pneumonia.
UNASSIGNED: We report the case of a male patient with severe pneumonia-induced respiratory failure. He was abnormally dependent invasive ventilator-assisted ventilation after his condition had improved. Then we found abnormal ventilator waveform and a decline in muscle strength of him. Mitochondrial myopathy was ultimately confirmed by muscle pathological biopsy and body fluid genetic testing. Vitamin B complex, coenzyme Q10, Neprinol AFD, l-arginine, and MITO-TONIC were used to improve mitochondrial function and muscle metabolism. After treatment, discomfort associated with chest tightness, fatigue, cough, and sputum disappeared, and the patient was discharged.
UNASSIGNED: This case presented an uncommon cause of difficult weaning and extubation-acute onset of mitochondrial myopathy. Muscle biopsy and genetic testing of body fluid are essential for diagnosing mitochondrial myopathy. The A3243G mutation in the MT-TL1 gene of mitochondrial DNA contributes to pathogenesis of this case.
摘要:
线粒体肌病是由线粒体结构或功能异常引起的一组疾病。线粒体肌病影响全身的肌肉并表现出不同的症状。重症肺炎患者的呼吸肌功能下降。
我们报告一例男性重症肺炎引起的呼吸衰竭。病情好转后,他异常依赖有创呼吸机辅助通气。然后我们发现他的呼吸机波形异常和肌肉力量下降。线粒体肌病最终通过肌肉病理活检和体液基因检测得到证实。复合维生素B,辅酶Q10,NeprinolAFD,l-精氨酸,和MITO-TONIC用于改善线粒体功能和肌肉代谢。治疗后,与胸闷相关的不适,疲劳,咳嗽,痰消失了,病人出院了.
该病例是一个罕见的原因,导致困难的断奶和拔管-线粒体肌病急性发作。肌肉活检和体液基因检测对于诊断线粒体肌病至关重要。线粒体DNA的MT-TL1基因中的A3243G突变有助于该病例的发病。
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