A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor

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摘要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.

作者 Tieli Li ^[1] Haixuan Ding ^[1] Xinlan Zhao ^[1] Juan Luo ^[1] Kai Chen ^[1] Zhuo Tang ^[1] Lingyun Huang ^[1] Langbo Li ^[1] Li Yang ^[1] 学术成果认领

作者单位 Department of Endocrinology,The First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China ^[1]

关键词 maturity-onset diabetes of the young 3 intestinal neuroendocrine tumor hepatocyte nuclear factor 1α mutation

栏目名称 Case Reports

DOI 10.24920/003997

发布时间 2022-07-13

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