线粒体神经胃肠脑肌病一例  

A case of mitochondrial neurogastrointestinal encephalo-myopathy

作　　者：段桂华 杨洪润 杞敏 左赞[1] 寻琳婷[1] 安瑛[1] 王进石 陆启柱 宋正己[1] Duan Guihua;Yang Hongrun;Qi Min;Zuo Zan;Xun Linting;An Ying;Wang Jinshi;Lu Qizhu;Song Zhengji(Department of Gastroenterology,the First People′s Hospital of Yunnan Province,the Affiliated Hospital of Kunming University of Science and Technology,Kunming 650032,China;Medical School of Dali University,Dali 671000,China;Department of Radiology,the Third People′s Hospital of Kunming City,the Sixth Affiliated Hospital of Dali University,Kunming 650041,China;Department of Internal Medicine,Chinese Medicine Hospital of Zhenxiong County,Zhaotong 657200,China)

机构地区：[1]云南省第一人民医院昆明理工大学附属医院消化科,昆明650032 [2]大理大学临床医学院,大理671000 [3]昆明市第三人民医院大理大学附属第六医院放射科,昆明650041 [4]云南省昭通市镇雄县中医院内科,昭通657200

出　　处：《中华炎性肠病杂志（中英文）》2022年第1期91-92,共2页Chinese Journal of Inflammatory Bowel Diseases

摘　　要：线粒体神经胃肠脑肌病(MNGIE)是一种罕见的常染色体隐性遗传性线粒体疾病,临床上以胃肠道和神经系统受累为主要特征,目前国内报道较少。本文报道1例以慢性腹泻为主要表现的MNGIE患者,旨在提高对MNGIE的认识。Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE)is a rare autosomal recessive hereditary mitochondrial disease,which is mainly characterized by gastrointestinal and neurological system involvement.This article reports a rare case of MNGIE which presented as chronic diarrhea.The purpose is to improve the understanding of MNGIE.

关 键 词：线粒体神经胃肠脑肌病 胸苷磷酸化酶 腹泻 常染色体隐性遗传病 

分 类 号：R596.1[医药卫生—内科学]