线粒体病相关性假性肠梗阻的临床研究

Research progress of mitochondrial disease associated with intestinal pseudo-obstruction

线粒体病是一组由线粒体基因或核基因突变引起的、导致机体能量生成不足的遗传代谢性疾病。线粒体病可累及神经系统、骨骼肌、心脏等全身各个器官,线粒体DNA 3243A>G突变是线粒体病最常见的点突变之一,伴发假性肠梗阻是胃肠道症状中的严重情况,但尚未引起临床足够关注。尽早识别并及时进行适当处理,可避免使用线粒体毒性药物进一步加重病情。本文重点介绍线粒体病相关性假性肠梗阻患者的临床表现、病理生理机制、影像学特征及治疗相关的临床研究。

Mitochondrial disease is a group of energy deficiency disease caused by mitochondrial gene or nuclear gene mutations. Mitochondrial disease can affect various organs, including nervous system, skeletal muscle, heart with varied clinical manifestations. The mitochondrial DNA 3243 A>G mutation is one of the most common point mutations in mitochondrial DNA. Other than nervous system involvement, this mutation can cause gastrointestinal symptoms, including abdominal distension, abdominal pain, recurrent vomiting and anorexia, chronic diarrhea and pseudo-obstruction. Among them, the intestinal pseudo-obstruction(IPO) is the most serious gastrointestinal manifestation, which is not fully recognized and frequently misdiagnosed. This review describes the clinical manifestations, pathophysiological mechanisms, radiological characteristics and the treatment of mitochondrial disease associated with IPO.