青少年的成人起病型糖尿病1型一家系报告  

A FAMILY OF MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1

作　　者：罗欢[1] 徐丽丽[1] 李萍[2] 宋利娜[1] 杨乃龙[1] LUO Huan, XU Lili, Li Ping, SONG Lina, YANG Nailong(Department of Endocrinology, The Affiliated Hospital of Qingdao University, Qingdao 266003, Chin)

机构地区：[1]青岛大学附属医院内分泌科,山东青岛2660031 [2]青岛大学附属医院输血科,山东青岛2660031

出　　处：《精准医学杂志》2018年第3期242-243,247,共3页Journal of Precision Medicine

基　　金：青岛市市南区科技局项目(2538)

摘　　要：目的探讨青少年的成人起病型糖尿病(MODY)一家系的致病基因。方法分析1例MODY家系的临床特点、实验室资料等,对先证者及其家系成员进行基因测序。结果该家系中有3名成员(先证者及其姐姐、母亲)均检测到HNF4α(NM175914)突变基因,外显子8框移突变、杂合突变,框移结果使氨基酸编码提前终止。先证者规律应用胰岛素增敏剂,血糖控制良好。结论该家系为HNF4α基因突变所致MODY1家系,且同一家系内同时存在2型糖尿病病人。Objective To investigate the pathogenic genes of a family of maturity-onset diabetes in young（ MODY）.Methods The clinical features and laboratory data of a family of MODY were analyzed,and gene sequencing was performed for the proband and family members. Results The mutant HNF4α（ NM175914） gene was detected in three members of the family（ the proband,the sister,and the mother）. A frameshift mutation and a heterozygous mutation were detected in exon 8,and the frameshift mutation resulted in the early termination of amino acid coding. The proband used insulin sensitizer regularly and had good blood glucose control. Conclusion This is a family of MODY type 1 caused by HNF4α gene mutation,and there is also a patient with type 2 diabetes in this family.

关 键 词：糖尿病 肝细胞核因子4 突变 基因检测 青少年 病例报告 

分 类 号：R587.1[医药卫生—内分泌]