GCK合并HNF-1B基因突变致青少年起病的成人型糖尿病家系1例

Maturity-onset diabetes of the young caused by mutations of GCK and HNF-1B genes:Report of the pedigree in one case

朱钥红 ¹周梦云 ¹吴涵 ¹翟清 ¹张安素 ¹姚新明 ¹高家林¹

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作者信息

1. 皖南医学院第一附属医院弋矶山医院内分泌科,安徽芜湖 241001
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摘要

目的:分析葡萄糖激酶(GCK)合并肝细胞核因子1B(HNF-1B)基因突变致青少年起病的成人型糖尿病(MODY)家系1例.方法:对先证者及其父母、弟弟完善静脉血全外显子基因检测,先证者明确诊断为GCK-MODY合并HNF-1B-MODY.结果:患者及其母亲均发生GCK、HNF-1B基因突变,患者弟弟发生CGK基因突变.结论:基因检测对诊断MODY至关重要,需重视患者的早期诊断,减少误诊、误治.

Abstract

Objective:To analyze the parent linkage of maturity-onset diabetes of the young(MODY)in a family with GCK and HNF-1B gene mutation.Methods:The whole-exome sequencing analysis was performed on the proband,including the parents and the younger brother,and the proposition were definitely confirmed as GCK-MODY combined with HNF-1B-MODY.Results:Both the patient and her mother had mutations of GCK and HNF-1B genes,and her brother had a mutation of GCK gene.Conclusion:Genetic testing is very important for the diagnosis of MODY,and early and correct diagnosis of MODY could reduce misdiagnosis and mistreatment as well as manage these patients well at an early stage.

关键词

青少年起病的成人型糖尿病/葡萄糖激酶/肝细胞核因子1B

Key words

maturity-onset diabetes of the young/glucokinase/hepatocyte nuclear factor 1 B

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基金项目

安徽省自然科学基金项目(2108085MH267)

出版年

2024

皖南医学院学报

皖南医学院

皖南医学院学报

CSTPCD

影响因子：0.695

ISSN：1002-0217

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