The purpose of this study is to determine the frequency of occurrence and molecular-genetic characteristics of MODY in patients with diabetes mellitus aged 1 to 18 years, residents of St. Petersburg.
Materials and methods: In St. Petersburg in 2017, there were 1620 patients with diabetes mellitus under the age of 18 years. 54 of them had evidence of hereditary variants of diabetes with chronic hyperglycemia at normal c-peptide indices for 2 years after the diagnosis of the disease, lack of immunological criteria for type 1 diabetes mellitus. In a study of DNA, 54 patients with suspicion of MODY used the full-sequence sequencing method. NGS-diagnostic panels were used to study the coding regions of genes, including the following genes: HNF1A, GCK, HNF4A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, EIF2AK3, RFX6, WFS1, ZFP57, FOXP3, KCNJ11, ABCC8, GLUD1, HADH (SCHAD), SLC16A1, UCP2, INSR, AKT2, GCG, GCGR, PPARG, PTF1A.
Results: DNA samples of patients with suspicion of MODY were examined. Mutations in the studied genes were found in 32 children from 54, which was 59% of all examined. The most common mutations in the GCK gene were 81.25% (n=26), HNF1A 12.5% (n=4), WFS1 3.12% (n=1), PAX4=3.12% (n=1). The incidence of hereditary variants of diabetes among all cases of children (1620 patients), respectively, was 2%.
Conclusions: Molecular-genetic confirmation of MODY diagnosis among patients with non-immune forms is high enough and is 59%. However, the frequency of monogenic forms of the disease among all children with diabetes in St. Petersburg does not exceed 2%.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology