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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 (...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical Publishers
2018
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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. |
format | Online Article Text |
id | pubmed-5842069 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Thieme Medical Publishers |
record_format | MEDLINE/PubMed |
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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