MODY<sub>3</sub>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

doi:10.24920/003997

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MODY₃合并肠道神经内分泌肿瘤：1例病例报道

中国医学科学杂志（英文版） 2022年37卷第2期页码：167-170

Case Reports | Updated：2024-04-10

- MODY₃合并肠道神经内分泌肿瘤：1例病例报道
- 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
  中图分类号：
- 收稿日期：2021-09-09，
  
  录用日期：2022-1-25，
  
  网络出版日期：2022-04-26，
  
  纸质出版日期：2022-06-30
- Accepted：
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李铁力, 丁海璇, 赵新兰, 等. MODY₃合并肠道神经内分泌肿瘤：1例病例报道[J]. 中国医学科学杂志（英文版）, 2022,37(2):167-170.

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.
李铁力, 丁海璇, 赵新兰, 等. MODY₃合并肠道神经内分泌肿瘤：1例病例报道[J]. 中国医学科学杂志（英文版）, 2022,37(2):167-170. DOI： 10.24920/003997.

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.

关键词

Keywords

references

Huang Y . IDF Diabetes Atlas 8th Edition . International Diabetes Federation 2017 ; 41 . Available from: http://dro.deakin.edu.au/view/DU:30060687 http://dro.deakin.edu.au/view/DU:30060687 http://dro.deakin.edu.au/view/DU:30060687

Shields BM , Hicks S , Shepherd MH , et al . Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010 ; 53 ( 12 ): 2504 - 8 . doi: 10.1007/s00125-010-1799-4 https://dx.doi.org/10.1007/s00125-010-1799-4 . DOI: 10.1007/s00125-010-1799-4 http://doi.org/10.1007/s00125-010-1799-4

Liu FC , Wang F , Niu EJ , et al . A case of juvenile-onset adult diabetes mellitus (MODY-11) with a novel locus mutation reported . Chin J Endocrinol Metab 2018 ; 34 ( 8 ):3. doi: 10.3760/cma.j.issn.1000-6699.2018.08.013 https://dx.doi.org/10.3760/cma.j.issn.1000-6699.2018.08.013 . DOI: 10.3760/cma.j.issn.1000-6699.2018.08.013 http://doi.org/10.3760/cma.j.issn.1000-6699.2018.08.013

Hattersley AT , Greeley SAW , Polak M , et al . ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents . Pediatr Diabetes 2018 ; 19 : 47 - 63 . doi: 10.1111/pedi.12772 https://dx.doi.org/10.1111/pedi.12772 . DOI: 10.1111/pedi.12772 http://doi.org/10.1111/pedi.12772 http://doi.wiley.com/10.1111/pedi.2018.19.issue-S27 http://doi.wiley.com/10.1111/pedi.2018.19.issue-S27

Oberg K . Neuroendocrine tumors (NETs): historical overview and epidemiology . Tumori 2010 ; 96 ( 5 ): 797 - 801 . DOI: 10.1177/030089161009600530 http://doi.org/10.1177/030089161009600530 http://journals.sagepub.com/doi/10.1177/030089161009600530 http://journals.sagepub.com/doi/10.1177/030089161009600530

Lawrence B , Gustafsson BI , Chan A , et al . The epidemiology of gastroenteropancreatic neuroendocrine tumors . Endocrinol Metab Clin North Am 2010 ; 40 ( 1 ): 1 - 18 . doi: 10.1016/j.ecl.2010.12.005 https://dx.doi.org/10.1016/j.ecl.2010.12.005 . DOI: 10.1016/j.ecl.2010.12.005 http://doi.org/10.1016/j.ecl.2010.12.005 https://linkinghub.elsevier.com/retrieve/pii/S088985291000099X https://linkinghub.elsevier.com/retrieve/pii/S088985291000099X

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MODY3合并肠道神经内分泌肿瘤：1例病例报道

DOI：10.24920/003997

摘要

Abstract

关键词

Keywords

references

MODY₃合并肠道神经内分泌肿瘤：1例病例报道