Neonatal diabetes in Ukraine: modern diagnostic and therapeutic approaches

Abstract

Purpose. Neonatal diabetes has not previously been studied in the Ukraine. In this study we investigated the genetic a etiology in patients with onset of diabetes mellitus during the first 9 months of life.Materials and methods. We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 42 patients from 39 families with permanent or transient diabetes diagnosed within the first 6 months of life (n=22) or permanent diabetes diagnosed between 6 and 9 months (n=20). We identified mutations by Sanger sequencing, next generation sequencing or by methylation analysis of the 6q24 region.Results. In 2013 the incidence of neonatal diabetes in the Ukraine was 1 in 103460. We determined the genetic etiology in 23 of 42 (55%) patients diagnosed with diabetes before 9 months; 86% of the patients diagnosed in the first 6 months and 20% of those diagnosed between 6-9 months. KATP channel mutations were most common, accounting for 52% of cases with a genetic diagnosis. All 11 patients with KATP channel mutations were able to transfer from insulin to sulfonylureas. Median HbA1c decreased from 7.4% [6.9-8.9] to 6.0% [5.5-6.4] 3 months after transfer (p=0.006).Conclusions. Genetic testing for patients identi­fied through the Ukrainian Pediatric Diabetes Register identified activating KCNJ11 and ABCC8 mutations as the most common cause of neonatal diabetes. Transfer to sulfonylureas improved glycaemic control in all 11 patients.