What is it about?

Background: Neonatal diabetes has not previously been studied in the 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 6-9 months. The incidence of neonatal diabetes in the 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 glycaemic control in all 11 patients.

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Why is it important?

The identification of a КСNJ11 mutation in a patient diagnosed at 7.5 months highlights the importance of providing genetic testing to those diagnosed between 6-9 months.

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This page is a summary of: Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment, Journal of Pediatric Endocrinology and Metabolism, January 2015, De Gruyter,
DOI: 10.1515/jpem-2015-0170.
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