Maturity-onset diabetes of the young comorbid with type 2 diabetes mellitus caused by missense mutation in the glucokinase gene：a case report

Bai Haoyu; Yu Jie; Wang Tong; Xiao Xinhua

doi:10.13406/j.cnki.cyxb.004021

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Maturity-onset diabetes of the young comorbid with type 2 diabetes mellitus caused by missense mutation in the glucokinase gene：a case report

Endocrine regulation and metabolic diseases\—hereditary endocrine and metabolic diseases | 更新时间：2026-10-26

- Maturity-onset diabetes of the young comorbid with type 2 diabetes mellitus caused by missense mutation in the glucokinase gene：a case report
- Journal of Chongqing Medical University Vol. 51, Issue 10, Pages: 1404-1410(2026)
- 作者机构：
  
  1.中国医学科学院/北京协和医学院/北京协和医院内分泌科/国家卫生健康委员会内分泌重点实验室/中国医学科学院糖尿病研究中心，北京　100730
  2.中国人民解放军第三〇五医院内分泌科，北京　100017
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.004021
  CLC： R587.1
- Received：04 August 2025，
  
  Revised：2025-11-29，
  
  Accepted：11 December 2025，
  
  Published：28 October 2026
- 稿件说明：
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白皓宇，余洁，王彤，等.葡萄糖激酶错义变异致青少年起病的成人型糖尿病合并2型糖尿病1例病例报道[J].重庆医科大学学报，2026，51（10）：1404-1410.

Bai Haoyu,Yu Jie,Wang Tong,et al.Maturity-onset diabetes of the young comorbid with type 2 diabetes mellitus caused by missense mutation in the glucokinase gene：a case report[J].Journal of Chongqing Medical University,2026,51(10):1404-1410.
白皓宇，余洁，王彤，等.葡萄糖激酶错义变异致青少年起病的成人型糖尿病合并2型糖尿病1例病例报道[J].重庆医科大学学报，2026，51（10）：1404-1410. DOI： 10.13406/j.cnki.cyxb.004021.

Bai Haoyu,Yu Jie,Wang Tong,et al.Maturity-onset diabetes of the young comorbid with type 2 diabetes mellitus caused by missense mutation in the glucokinase gene：a case report[J].Journal of Chongqing Medical University,2026,51(10):1404-1410. DOI： 10.13406/j.cnki.cyxb.004021.

摘要

目的

探讨1例葡萄糖激酶致青少年起病的成人型糖尿病（glucokinase-maturity-onset diabetes of the young，GCK-MODY）与2型糖尿病（type 2 diabetes mellitus，T2DM）共存患者的临床与分子遗传学特征。

方法

分析1例于北京协和医院确诊的MODY患者及其家系资料，并对先证者及相关家系成员进行全外显子组测序。

结果

基因检测结果显示，在该家系的5名受检成员中，有4名检出

gck

基因致病变异。先证者在遗传背景基

础上，表现出饮食及运动控制欠佳、稳态模型评估的胰岛素抵抗指数（homeostasis model assessment-insulin resistance index，HOMA-IR）偏高等不典型特征，最终确诊为GCK-MODY合并T2DM。

结论

GCK-MODY合并T2DM的临床特征为在

gck

基因变异所致的轻度空腹高血糖基础上，叠加不同程度的胰岛素抵抗和代谢综合征。

Abstract

Objective

To investigate the clinical and molecular genetic characteristics of a patient comorbid with glucokinase-maturity-onset diabetes of the young（GCK-MODY） and type 2 diabetes mellitus（T2DM）.

Methods

Clinical and family data were collected from a patient who was diagnosed with MODY in Peking Union Medical College Hospital，and whole-exome sequencing was performed for the proband and related family members.

Results

Genetic testing showed that among the five members undergoing the test，four were found to have a pathogenic mutation in the

gck

gene. On the basis of the genetic background，the proband presented with atypical features such as poor glycemic control with lifestyle intervention and an increase in Homeostasis Model Assessment of Insulin Resistance and was finally diagnosed with GCK-MODY comorbid with T2DM.

Conclusion

GCK-MODY comorbid with T2DM is characterized by varying degrees of insulin resistance and metabolic syndrome on the basis of mild fasting hyperglycemia caused by

gck

gene mutations.

关键词

Keywords

references

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