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

作　　者：朱钥红 周梦云 吴涵 翟清 张安素 姚新明 高家林 ZHU Yuehong;ZHOU Mengyun;WU Han;ZHAI Qing;ZHANG Ansu;YAO Xinming;GAO Jialin(Department of Endocrinology,The First Affiliated Hospital of Wannan Medical College,Wuhu 241001,Anhui,China)

机构地区：[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

出　　处：《皖南医学院学报》2024年第5期509-510,F0003,共3页Journal of Wannan Medical College

基　　金：安徽省自然科学基金项目(2108085MH267)。

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。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 

分 类 号：R587.1[医药卫生—内分泌]