肝细胞核因子1α基因突变致青少年的成人起病型糖尿病3型的家系报道  

Maturity-onset diabetes of the young type 3 caused by genetic mutation of hepatocyte nuclear factor-1α: One family report

作　　者：邵明玮[1] 刘彦玲 杜培洁[1] 王芳[1] 赵霖 秦贵军[1] Shao Mingwei;Liu Yanling;Du Peijie;Wang Fang;Zhao Lin;Qin Guijun(Department of Endocrinology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院内分泌科,450052

出　　处：《中华内分泌代谢杂志》2020年第7期603-606,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：本研究从1例儿童糖尿病患者入手,详细收集临床资料和追溯糖尿病家族史,临床诊断为青少年的成人起病型糖尿病。提取患者及其一级家属外周血白细胞基因组DNA,扩增目标基因并测序,发现先证者和其父的肝细胞核因子1α基因第4外显子发生核苷酸错义突变(c.779C>T),明确其青少年的成人起病型糖尿病3型的诊断。在1年的随访过程中,先证者应用格列奈类药物治疗后血糖达标,其父调整方案为长效磺脲类促泌剂后血糖明显改善。The study was initiated from a child with diabetes.After we collected his clinical data and traced back his family history of diabetes,a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made.To amplify and sequence the target gene,the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives,revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1αin the proband and his father.The above sequencing result confirms the diagnosis of MODY3.During one year follow-up,the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.

关 键 词：肝细胞核因子1α基因 青少年的成人起病型糖尿病3型 格列奈类 磺脲类促泌剂 

分 类 号：R587.1[医药卫生—内分泌]