Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
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
1279-1286
Globa, Evgenia
665b794f-f4b8-4bb3-8e2a-be39db9a4a44
Zelinska, Nataliya
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Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, Karen I
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Houghton, Jayne A.L.
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Hattersley, Andrew T.
429254b8-e75b-46bd-a6f6-274130336b0d
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Ellard, Sian
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November 2015
Globa, Evgenia
665b794f-f4b8-4bb3-8e2a-be39db9a4a44
Zelinska, Nataliya
55a08dfb-f665-4dd7-86a4-78576550a820
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, Karen I
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Houghton, Jayne A.L.
f3b605d5-5caf-48f6-a378-417582c0ccd7
Hattersley, Andrew T.
429254b8-e75b-46bd-a6f6-274130336b0d
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Globa, Evgenia, Zelinska, Nataliya, Mackay, Deborah J.G., Temple, Karen I, Houghton, Jayne A.L., Hattersley, Andrew T., Flanagan, Sarah E. and Ellard, Sian
(2015)
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
Journal of Pediatric Endocrinology and Metabolism, 28 (11-12), .
(doi:10.1515/jpem-2015-0170).
(PMID:26208381)
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
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379725.pdf
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More information
Accepted/In Press date: 8 June 2015
e-pub ahead of print date: 24 July 2015
Published date: November 2015
Organisations:
Human Development & Health
Identifiers
Local EPrints ID: 379725
URI: http://eprints.soton.ac.uk/id/eprint/379725
ISSN: 0334-018X
PURE UUID: a5f07dbc-c885-463d-82e0-a9ddb4f32f44
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Date deposited: 07 Aug 2015 09:11
Last modified: 15 Mar 2024 03:01
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Contributors
Author:
Evgenia Globa
Author:
Nataliya Zelinska
Author:
Jayne A.L. Houghton
Author:
Andrew T. Hattersley
Author:
Sarah E. Flanagan
Author:
Sian Ellard
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