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

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.