存在葡萄糖激酶基因突变但临床表型各异的糖尿病4例  

Four cases of diabetes mellitus with diverse clinical phenotypes with glucokinase gene mutations

作　　者：吴浩雯 束燕雯 袁方勤 沈山梅[4] 毕艳[4] 顾天伟 Wu Haowen;Shu Yanwen;Yuan Fangqin;Shen Shanmei;Bi Yan;Gu Tianwei(Department of Endocrinology,Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University,Nanjing 210000,China;Department of Endocrinology,People′s Hospital Affiliated to Jiangsu University,Zhenjiang 212000,China;Department of Endocrinology,Nanjing Drum Tower Hospital Clinical College,Nanjing University of Chinese Medicine,Nanjing 210000,China;Department of Endocrinology,Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Nanjing 210000,China)

机构地区：[1]南京医科大学鼓楼临床医学院内分泌科,南京210000 [2]江苏大学附属人民医院内分泌科,镇江212000 [3]南京中医药大学鼓楼临床医学院内分泌科,南京210000 [4]南京大学医学院附属鼓楼医院内分泌科,南京210000

出　　处：《中华糖尿病杂志》2025年第1期174-179,共6页CHINESE JOURNAL OF DIABETES MELLITUS

摘　　要：该文报道4例年轻起病、胰岛自身抗体阴性、基因检测均提示存在葡萄糖激酶(GCK)基因杂合突变,但临床表现及临床诊治各异的糖尿病病例,提示针对年轻起病的糖尿病患者,需结合其临床特征判读其基因检测报告以明确糖尿病分型,指导进一步个体化的治疗。

关 键 词：糖尿病 青少年起病的成人型糖尿病 葡萄糖激酶基因 

分 类 号：R587.1[医药卫生—内分泌]