线粒体神经胃肠型脑肌病的诊治进展

Progress in the diagnosis and treatment of mitochondrial neurogastrointestinal encephalopathy

线粒体神经胃肠型脑肌病(MNGIE)是一种罕见的常染色体隐性遗传病,发病年龄广泛,从新生儿到50岁均可发病,表现为多系统疾病。现就MNGIE的遗传学特点、临床表型、诊断及治疗的研究进展进行综述,以提高临床医师对该病的认识。

Mitochondrial neurogastrointestinal encephalopathy(MNGIE)is a rare autosomal recessive disease with a wide age range of onset from neonates to 50 years old,characterized by multisystem involvement.In this article,the research progress of the genetic characteristics,clinical phenotype,diagnosis and treatment of MNGIE was reviewed to further improve its clinical understanding.