肝细胞核因子4α基因突变导致年轻的成年发病型糖尿病一例报道  

Maturity-onset diabetes of the youth caused by a novel HNF-4αgene mutation:a case report

作　　者：肖帮惠 张淼 XIAO Banghui;ZHANG Miao(Department of Endocrinology and Metabolism,Affiliated Hospital of Guizhou Medical University,Guiyang550004,China)

机构地区：[1]贵州医科大学附属医院内分泌代谢病科,贵阳550004

出　　处：《中国糖尿病杂志》2023年第4期300-302,共3页Chinese Journal of Diabetes

基　　金：贵州省卫生健康委省级重点学科建设项目(2023-2024);贵州省科技厅基础项目(黔科合基础-ZK[2022]一般448)。

摘　　要：16岁男性DM患者体型匀称,无DM家族史。基因测序发现先证者及父HNF-4α基因第5外显子发生无义突变(c.580C>T)。起病年轻DM患者临床表现不符合典型T1DM、T2DM,需考虑单基因DM,必要时进行基因检测。A 16-year-old male patient with diabetes mellitus(DM)presented a symmetrical body shape and had no family history of DM.Gene sequencing found that both the proband and his father had hepatocyte nuclear factor 4αnonsense mutation(c.580CT)in exon 5 of the gene.This study shows that if the clinical manifestation of a young onset DM patient is not consistent with the typical T1DM or T2DM,it should be considered as a monogenic DM type,and gene testing should be carried out if necessary.

关 键 词：年轻的成年发病型糖尿病 肝细胞核因子4Α 基因突变 

分 类 号：R587.1[医药卫生—内分泌]