典型文献
A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor
文献摘要：
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.
文献关键词：
中图分类号：
作者姓名：
Tieli Li;Haixuan Ding;Xinlan Zhao;Juan Luo;Kai Chen;Zhuo Tang;Lingyun Huang;Langbo Li;Li Yang
作者机构：
Department of Endocrinology,The First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China
文献出处：
引用格式：
[1]Tieli Li;Haixuan Ding;Xinlan Zhao;Juan Luo;Kai Chen;Zhuo Tang;Lingyun Huang;Langbo Li;Li Yang-.A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor)[J].中国医学科学杂志（英文版）,2022(02):167-170
A类：
598C,Arg200Trp,5587C,Pro1863Ala,leson
B类：
Case,Report,MODY3,Combined,Intestinal,Neuroendocrine,Tumor,Maturity,onset,diabetes,young,autosomal,dominant,monogenic,mellitus,characterized,by,defective,cell,function,insulin,dependent,early,facts,that,patients,are,often,misdiagnosed,type,genetic,diagnosis,expensive,make,its,very,challenging,this,study,we,reported,case,which,was,verified,caused,mutation,hepatocyte,nuclear,addition,had,neuroendocrine,tumor,simultaneously,KMT2D,might,associated
AB值：
0.586164
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