dc.contributor.author | Hattersley, Andrew T. | |
dc.contributor.author | Globa, E | |
dc.contributor.author | Zelinska, N | |
dc.contributor.author | Mackay, Deborah J.G. | |
dc.contributor.author | Temple, I. Karen | |
dc.contributor.author | Houghton, JA | |
dc.contributor.author | Flanagan, SE | |
dc.contributor.author | Ellard, Sian | |
dc.date.accessioned | 2015-09-04T13:25:02Z | |
dc.date.issued | 2015-07-24 | |
dc.description.abstract | 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. | en_GB |
dc.description.sponsorship | Wellcome Trust | en_GB |
dc.identifier.citation | Volume 28, Issue 11-12, Pages 1279–1286; Published Online: 24th July 2015 | en_GB |
dc.identifier.doi | 10.1515/jpem-2015-0170 | |
dc.identifier.uri | http://hdl.handle.net/10871/18173 | |
dc.language.iso | en | en_GB |
dc.publisher | De Gruyter | en_GB |
dc.rights | Creative Commons CC-BY article | |
dc.subject | neonatal diabetes | en_GB |
dc.subject | sulfonylurea | en_GB |
dc.subject | treatment | en_GB |
dc.subject | Ukraine | en_GB |
dc.title | Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment | en_GB |
dc.type | Article | en_GB |
dc.identifier.issn | 0334-018X | |
dc.description | Open Access article, available via: DOI: 10.1515/jpem-2015-0170 | en_GB |
dc.identifier.eissn | 2191-0251 | |
dc.identifier.journal | Journal of Pediatric Endocrinology and Metabolism | en_GB |
dc.identifier.pmid | 26208381 | |