Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
Hattersley, Andrew T.
Mackay, Deborah J.G.
Temple, I. Karen
Journal of Pediatric Endocrinology and Metabolism
Creative Commons CC-BY article
Background: Neonatal diabetes has not been previously studied in Ukraine. We investigated the genetic etiology in patients with onset of diabetes during the ﬁrst 9 months of life. 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 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). Results: We determined the genetic etiology in 23 of 42 (55%) patients; 86% of the patients diagnosed before 6 months and 20% diagnosed between 6 and 9 months. The incidence of neonatal diabetes in Ukraine was calculated to be 1 in 126,397 live births. Conclusions: Genetic testing for patients identified through the Ukrainian Pediatric Diabetes Register identified KCNJ11 and ABCC8 mutations as the most common cause (52%) of neonatal diabetes. Transfer to sulfonylureas improved glycemic control in all 11 patients.
Open Access article, available via: DOI: 10.1515/jpem-2015-0170
Volume 28, Issue 11-12, Pages 1279–1286; Published Online: 24th July 2015