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Neonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother and her offspring

dc.contributor.authorÖztürk, Mehmet Adnan
dc.contributor.authorKurtoglu, Selim
dc.contributor.authorBastug, Osman
dc.contributor.authorKORKMAZ, LEVENT
dc.contributor.authorDaar, Ghaniya
dc.contributor.authorMemur, Seyma
dc.contributor.authorHalis, Hulya
dc.contributor.authorGÜNEŞ, TAMER
dc.contributor.authorHussain, Khalid
dc.contributor.authorEllard, Sian
dc.contributor.institutionauthorKORKMAZ, LEVENT
dc.date.accessioned2020-10-29T20:23:32Z
dc.date.available2020-10-29T20:23:32Z
dc.date.issued2014-07-01T00:00:00Z
dc.description.abstractNeonatal diabetes is defined as an uncontrolled hyperglycemic state occurring within the first 6 months of life. It is a rare disease with an incidence of 1 to 90,000-250,000. It is usually a disease of genetic origin in which insulin gene mutations play the main role in the disease process. A baby, born to a mother who had previously been diagnosed with type 1 diabetes mellitus at 14 months of age, had a high blood sugar level within the first few hours after birth and was subsequently diagnosed as having neonatal diabetes mellitus. Baby and mother were identified as having a novel heterozygous insulin missense mutation, p.C109R. Difficulties occurred in both follow-up and feeding of the baby. Without the addition of the mother-s milk, an appropriate calorie milk formula and isophane insulin were used for the baby during follow-up. Multiple mechanisms are responsible in the pathogenesis of neonatal diabetes mellitus. Insulin gene mutations are one of the factors in the development of neonatal diabetes mellitus. If a resistant hyperglycemic state persists for a long time among babies, especially in those with intra-uterine growth retardation whose mothers are diabetic, the baby concerned should be followed-up carefully for the development of neonatal diabetes mellitus.
dc.identifier.citationÖztürk M. A. , Kurtoglu S., Bastug O., KORKMAZ L., Daar G., Memur S., Halis H., GÜNEŞ T., Hussain K., Ellard S., -Neonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother and her offspring-, JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.27, ss.745-748, 2014
dc.identifier.doi10.1515/jpem-2013-0285
dc.identifier.scopus84907181828
dc.identifier.urihttp://hdl.handle.net/20.500.12645/26028
dc.identifier.wosWOS:000338839500025
dc.titleNeonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother and her offspring
dc.typeArticle
dspace.entity.typePublication
local.avesis.id66754a1b-2f53-4e2e-b55d-96557bba0009
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
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relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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