中国实用儿科杂志

中国实用儿科杂志

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线粒体脂肪酸氧化代谢病与猝死

  

  1. 1.厦门大学附属妇女儿童医院  厦门市妇幼保健院儿科，福建  厦门  361003；2.北京大学第一医院儿科，北京  100034
  • 出版日期:2019-07-06 发布日期:2019-07-12

Mitochondrial fatty acid β-oxidation disorders and sudden death

  1. *Department of Pediatrics， Women and Children’s Hospital， School of Medicine，Xiamen University， Xiamen  361003， China
  • Online:2019-07-06 Published:2019-07-12

摘要：

线粒体脂肪酸β氧化代谢病是一类潜在的致死性疾病。由于编码某种酶的基因致病突变导致酶活性缺乏，引起能量代谢衰竭和多器官损害。患儿临床表现复杂，轻重不同，可急可缓。少数既往无症状的患儿急性发病，在不明原因情况下发生心源性猝死。随着生化分析技术及基因检测技术的发展和应用，通过对猝死患者的代谢尸检及基因分析，明确了线粒体脂肪酸β氧化代谢病是导致猝死的一组遗传病。通过串联质谱法扩展新生儿筛查或高危筛查，患儿可在无症状时期或疾病早期获得诊断，早期干预是减少残障及病死率的关键。

关键词: 线粒体脂肪酸&beta, 氧化代谢病, 猝死, 心源性猝死, 代谢尸检

Abstract:

Mitochondrial fatty acid β-oxidation defects are series of underlying fatal diseases. The enzyme deficiencies caused by related gene mutations would lead to energy metabolic crisis and multi-organ damage. The clinical features of the patients are varied. The disease course ranged from acute to chronic，with mild to severe symptoms. Some previously healthy patients presented as sudden unexpected death due to acute cardiac death. With the development and the application of biochemical and genetic technologies in the metabolic autopsy，mitochondrial fatty acid β-oxidation disorders were recognized to be the genetic cause of sudden death. By expanded neonatal screening using tandem mass spectrometry，the patients could be detected at asymptomatic period or early stage of disease. Early intervention is the key to reduce the mortality and the disability.

Key words: fatty acid oxidation disorders, sudden unexpected death, acute cardiac death, metabolic autopsy