Chinese Medical Sciences Journal ›› 2022, Vol. 37 ›› Issue (2): 167-170.doi: 10.24920/003997

• 病例报告 • 上一篇    

MODY3合并肠道神经内分泌肿瘤:1例病例报道

李铁力,丁海璇,赵新兰,罗娟,陈凯,唐卓,黄凌云,李浪波,杨丽*()   

  1. 湖南师范大学第一附属医院(湖南省人民医院)内分泌科,长沙 410005
  • 收稿日期:2021-09-09 接受日期:2022-01-25 出版日期:2022-06-30 发布日期:2022-07-07
  • 通讯作者: 杨丽 E-mail:244652700@qq.com

A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor

Tieli Li,Haixuan Ding,Xinlan Zhao,Juan Luo,Kai Chen,Zhuo Tang,Lingyun Huang,Langbo Li,Li Yang*()   

  1. Department of Endocrinology, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People’s Hospital), Changsha 410005, China
  • Received:2021-09-09 Accepted:2022-01-25 Published:2022-06-30 Online:2022-07-07
  • Contact: Li Yang E-mail:244652700@qq.com

摘要:

青少年的成人起病型糖尿病3型(MODY3)是以β细胞功能缺陷为特征的单基因糖尿病,呈常染色体显性遗传,属于非胰岛素依赖早发型糖尿病。由于MODY3患者常被误诊为1型糖尿病和2型糖尿病,且因基因诊断的费用昂贵,因此其诊断极具挑战性。本研究报道了1例MODY3患者,经基因检测证实为肝细胞核因子1α基因突变(c.598C>T,p.Arg200Trp)所致。同时,患者合并神经内分泌肿瘤,基因检测发现的某些突变可能与其相关。我们建议对有家族史且存在早发糖尿病的中青年患者应排除MODY3

关键词: 青少年的成人起病型糖尿病3型, 肠道神经内分泌肿瘤, 肝细胞核因子1α, 突变

Abstract:

Maturity-onset diabetes of the young 3 (MODY3) is an autosomal dominant monogenic diabetes mellitus characterized by defective β-cell function and non-insulin-dependent early-onset diabetes mellitus. The facts that patients with MODY3 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 MODY3, which was verified to be caused by a mutation in hepatocyte nuclear factor 1α gene (c.598C>T, p.Arg200Trp). In addition, the patient had a neuroendocrine tumor simultaneously, and a KMT2D gene mutation (c.5587C>G, p.Pro1863Ala) might be associated with this leson.

Key words: maturity-onset diabetes of the young 3, intestinal neuroendocrine tumor, hepatocyte nuclear factor 1α, mutation

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