Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment

• Main Authors: Globa, Evgenia (Author), Zelinska, Nataliya (Author), Mackay, Deborah J.G (Author), Temple, Karen I (Author), Houghton, Jayne A.L (Author), Hattersley, Andrew T. (Author), Flanagan, Sarah E. (Author), Ellard, Sian (Author)
• Format: Article
• Language: English
• Published: 2015-11.
• Subjects: Article
• Online Access: Get fulltext

<b>Background:</b> 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. <b>Methods:</b> 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). <b>Results:</b> 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. <b>Conclusions:</b> 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