Three-year observation of permanent neonatal diabetes

The aim of this paper is to present a three-year observation of four children with permanent neonatal diabetes caused by heterozygous activating mutations in both KCNJ11 gene for Kir6.2 and ABCC8 gene for SUR1 subunits (three patients after three years of clinical observation and one patient after t...

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Published inPediatric endocrinology, diabetes, and metabolism Vol. 16; no. 1; p. 50
Main Authors Noczyńska, Anna, Zubkiewicz-Kucharska, Agnieszka, Salmonowicz, Barbara, Małecki, Maciej, Młynarski, Wojciech
Format Journal Article
LanguagePolish
Published Poland 2010
Subjects
Adolescent
Adult
ATP-Binding Cassette Transporters - genetics
Child
Diabetes Mellitus, Type 1 - drug therapy
Diabetes Mellitus, Type 1 - genetics
Female
Glipizide - therapeutic use
Humans
Hypoglycemic Agents - therapeutic use
Infant, Newborn
Insulin - therapeutic use
Male
Mutation
Potassium Channels, Inwardly Rectifying - genetics
Receptors, Drug - genetics
Sulfonylurea Receptors
Young Adult
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Summary:The aim of this paper is to present a three-year observation of four children with permanent neonatal diabetes caused by heterozygous activating mutations in both KCNJ11 gene for Kir6.2 and ABCC8 gene for SUR1 subunits (three patients after three years of clinical observation and one patient after two years of clinical observation, respectively). In three cases with Kir6.2 mutation, developmental delay was diagnosed. In all four patients the glucagon test revealed normal c-peptide secretion. During the treatment with sulfonylureas (SU), glycaemia remained within the normal range, HbA1c<7%, in our patients. In all children reduction a of SU doses was required.
ISSN:2081-237X