新疆地区年轻的成年发病型糖尿病基因筛查研究  

Genetic screening of suspected maturity-onset diabetes of youth in Xinjiang

作　　者：杜丹阳 李素丽[1] 热孜万古丽·乌斯曼[1] 努荣古丽·买买提[1] 张洁[1] 陈园[1] 王新玲[1] 郭艳英[1] DU Danyang;LI Suli;Reziwanguli·Wusiman(Department of Endocrinology,People’s Hospital of Xinjiang Uygur Autonomous Region,Urumchi 830000,China)

机构地区：[1]新疆维吾尔自治区人民医院内分泌科,乌鲁木齐830000

出　　处：《中国糖尿病杂志》2022年第3期174-179,共6页Chinese Journal of Diabetes

基　　金：自治区区域协同创新专项(科技援疆计划)项目(2019E0285)。

摘　　要：目的采用高通量测序(NGS)研究MODY分子基础,了解新疆地区MODY检出情况和临床特征。方法选取2015年1月至2020年9月于我院内分泌科收治的早发DM患者321例,对其中69例进行基因检测,筛查出携带MODY突变基因的患者14例,分析先证者及家系成员临床特征。结果 14例携带MODY突变基因患者,其中MODY1(HNF4A)1例、MODY2(GCK)2例、MODY3(HNF1A)1例、MODY4(PDX1)2例、MODY5(HNF1B)1例、MODY6(NEUROD1)1例、MODY7(KLF11)2例、MODY9(PAX4)1例、MODY10(INS)2例、MODY12(ABCC8)1例。对携带GCK c. A1398G p. X466W患者及其家系成员进行家系分析并确诊为MODY2。结论对DM检出年龄早、DM病程长但血糖控制较好且C-P水平降低缓慢的患者,不使用或使用小剂量Ins可良好控制血糖。应对DM家族史患者进行诊断性基因检测,以避免误诊及漏诊。NGS有助于正确诊断MODY亚型。Objective To investigate the molecular basis of maturity-onset diabetes of youth (MODY) by next generation sequencing (NGS) and estimate the frequency and describe the clinical characteristics of MODY in Xinjiang.Methods A total of 321 patients with early-onset diabetes treated in the Department of Endocrinology of our hospital were enrolled from January 2015 to September 2020. Sixty-nine of them received genetic testing,and 14 patients carried MODY gene mutations. Then the clinical characteristics of probands and family members were analyzed.Results 14 patients carried MODY mutations,including 1 case of MODY1(HNF4 A),2 cases of MODY2(GCK),1 case of MODY3(HNF1 A),2 cases of MODY4(PDX1),1 case of MODY5(HNF1 B),1 case of MODY6(NEUROD1),2 cases of MODY7(KLF11),1 case of MODY9(PAX4),2 cases of MODY10(INS),and 1 case of MODY12(ABCC8). Among them,One patient had GCK c. A1398 G p. X466 W mutation,and after family analysis he was diagnosed as “MODY2”.Conclusion We suggest that in patients with an onset age of diabetes less than 45 years old,satisfactory blood glucose control and slow speed of C-peptide level reduction despite long diabetes duration,good blood glucose control could be reached by low dose of insulin treatment or even without insulin. Genetic testing is suggested in patients with diabetes family history to avoid misdiagnosis. NGS is helpful in precisely diagnosis of MODY subtypes.

关 键 词：单基因糖尿病 年轻的成年发病型糖尿病 突变基因 基因检测 

分 类 号：R587.1[医药卫生—内分泌]