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Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (...

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Autores principales: Piccini, Barbara, Coviello, Caterina, Drovandi, Livia, Rosangela, Artuso, Monzali, Francesca, Casalini, Emilio, Giglio, Sabrina, Toni, Sonia, Dani, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2018
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842069/
https://www.ncbi.nlm.nih.gov/pubmed/29527407
http://dx.doi.org/10.1055/s-0038-1636427
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author Piccini, Barbara
Coviello, Caterina
Drovandi, Livia
Rosangela, Artuso
Monzali, Francesca
Casalini, Emilio
Giglio, Sabrina
Toni, Sonia
Dani, Carlo
author_facet Piccini, Barbara
Coviello, Caterina
Drovandi, Livia
Rosangela, Artuso
Monzali, Francesca
Casalini, Emilio
Giglio, Sabrina
Toni, Sonia
Dani, Carlo
author_sort Piccini, Barbara
collection PubMed
description Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation.
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spelling pubmed-58420692018-03-09 Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation Piccini, Barbara Coviello, Caterina Drovandi, Livia Rosangela, Artuso Monzali, Francesca Casalini, Emilio Giglio, Sabrina Toni, Sonia Dani, Carlo AJP Rep Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation. Thieme Medical Publishers 2018-01 2018-03-07 /pmc/articles/PMC5842069/ /pubmed/29527407 http://dx.doi.org/10.1055/s-0038-1636427 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Piccini, Barbara
Coviello, Caterina
Drovandi, Livia
Rosangela, Artuso
Monzali, Francesca
Casalini, Emilio
Giglio, Sabrina
Toni, Sonia
Dani, Carlo
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title_full Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title_fullStr Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title_full_unstemmed Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title_short Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
title_sort transient neonatal diabetes mellitus in a very preterm infant due to abcc8 mutation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842069/
https://www.ncbi.nlm.nih.gov/pubmed/29527407
http://dx.doi.org/10.1055/s-0038-1636427
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