A Case Report of MODY_(3)Combined with Intestinal Neuroendocrine Tumor  

作　　者：Tieli Li Haixuan Ding Xinlan Zhao Juan Luo Kai Chen Zhuo Tang Lingyun Huang Langbo Li Li Yang 

机构地区：[1]Department of Endocrinology,The First Affiliated Hospital of Hunan Normal University(Hunan Provi ncial People's Hospital),Changsha 410005,China

出　　处：《Chinese Medical Sciences Journal》2022年第2期167-170,共4页中国医学科学杂志（英文版）

基　　金：supported by Renshu Fund of Hunan Provincial People's Hospital(RS201910).

摘　　要：Maturity-onset diabetes of the young 3(MODY_(3))is an autosomal dominant monogenic diabetes mellitus characterized by defective p-cell function and non-insulin-dependent early-onset diabetes mellitus.The facts that patients with MODY_(3) are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive,make its diagnosis very challenging.In this study,we reported a case of MODY_(3),which was verified to be caused by a mutation in hepatocyte nuclear factor 1αgene(c.598C>X p.Arg200Trp).In addition,the patient had a neuroendocrine tumor simultaneously,and a KMT2D gene mutation(c.5587C>G,p.Prol863Ala)might be associated with this leson.

关 键 词：maturity-onset diabetes of the young 3 intestinal neuroendocrine tumor hepatocyte nuclear factor 1α MUTATION 

分 类 号：R735.3[医药卫生—肿瘤] R587.1[医药卫生—临床医学]