Abstract
Background: Neonatal diabetes has not been previously studied in Ukraine. We investigated the genetic etiology in patients with onset of diabetes during the ïrst 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.
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Globa, E., Zelinska, N., Mackay, D. J. G., Temple, K. I., Houghton, J. A. L., Hattersley, A. T., … Ellard, S. (2015). Neonatal diabetes in Ukraine: Incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinology and Metabolism, 28(11–12), 1279–1286. https://doi.org/10.1515/jpem-2015-0170
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