A Case Report of MODY<sub>3</sub> Combined with Intestinal Neuroendocrine Tumor

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

doi:10.24920/003997

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A Case Report of MODY₃ Combined with Intestinal Neuroendocrine Tumor

Chinese Medical Sciences Journal Vol. 37, Issue 2, Pages: 167-170(2022)

Case Reports | Updated：2024-04-10

- A Case Report of MODY₃ Combined with Intestinal Neuroendocrine Tumor
- Affiliations：
  
  Department of Endocrinology, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People’s Hospital), Changsha 410005, China
- Author bio：
  
  * Tel: 86-15073167059, E-mail: 244652700@qq.com
- Funds：
- DOI：10.24920/003997
  CLC：
- Received：09 September 2021，
  
  Accepted：2022-1-25，
  
  Published Online：26 April 2022，
  
  Published：30 June 2022
- Accepted：
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Tieli Li, Haixuan Ding, Xinlan Zhao, et al. A Case Report of MODY₃ Combined with Intestinal Neuroendocrine Tumor[J]. Chinese medical sciences journal, 2022, 37(2): 167-170.
DOI：

Tieli Li, Haixuan Ding, Xinlan Zhao, et al. A Case Report of MODY₃ Combined with Intestinal Neuroendocrine Tumor[J]. Chinese medical sciences journal, 2022, 37(2): 167-170. DOI： 10.24920/003997.

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MODY

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MODY

患者

经基因检测证实为肝细胞核因子1α基因突变（c.598C

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MODY

。

Abstract

Maturity-onset diabetes of the young 3 (MODY

) 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 MODY

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

which was verified to be caused by a mutation in hepatocyte nuclear factor 1α gene (c.598C

p.Arg200Trp). In addition

the patient had a neuroendocrine tumor simultaneously

and a

KMT2D

gene mutation (c.5587C

p.Pro1863Ala) might be associated with this leson.

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references

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A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor

DOI：10.24920/003997

摘要

Abstract

关键词

Keywords

references

A Case Report of MODY₃ Combined with Intestinal Neuroendocrine Tumor