利格列汀治疗肝细胞核因子1β基因突变引起年轻的成年发病型糖尿病一例报道

Linagliptin for the treatment of maturity-onset diabetes of youth caused by HNF1βgene mutation

报道1例利格列汀治疗肝细胞核因子1β(HNF1β)基因突变引起的MODY患者临床特征。利用MODY(1~13型)基因外显子二代测序和Sanger测序验证MODY5患者及其母亲,连续3年予利格列汀单药治疗,观察血糖、肾功能、胰岛β细胞功能变化。合并先天性胰腺和肾脏发育不全的青少年DM患者及亲属应筛查MODY5,精准诊断并予个体化治疗有助于血糖达标及改善生活质量。

We reported the characteristics of a patient with maturity-onset diabetes of youth(MODY)caused by hepatocyte nuclear factor 1β(HNF1β)gene mutation and shared the clinical experience of treatment with Linagliptin.The proband and her mother were confirmed to be MODY5 patients by secondgeneration sequencing of exons of MODY(1~13 types)gene and Sanger sequencing.They were treated with Linagliptin for 3 consecutive years.The levels of blood glucose,renal function and isletsβchanges in cell secretion function were observed.In juvenile diabetes mellitus patients with congenital pancreatic and renal hypoplasia,pedigree screening for MODY5 should be performed.Accurate diagnosis and individualized treatment of MODY5 patients will help meet blood glucose standards and improve quality of life.