Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)

Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosi...

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Autores principales: Martins, Luísa, Lourenço, Rita, Maia, Ana Lúcia, Maciel, Paula, Monteiro, Maria Isabel, Pacheco, Lucinda, Anselmo, João, César, Rui, Gomes, Maria Fernanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614638/
https://www.ncbi.nlm.nih.gov/pubmed/26509005
http://dx.doi.org/10.1002/ccr3.328
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author Martins, Luísa
Lourenço, Rita
Maia, Ana Lúcia
Maciel, Paula
Monteiro, Maria Isabel
Pacheco, Lucinda
Anselmo, João
César, Rui
Gomes, Maria Fernanda
author_facet Martins, Luísa
Lourenço, Rita
Maia, Ana Lúcia
Maciel, Paula
Monteiro, Maria Isabel
Pacheco, Lucinda
Anselmo, João
César, Rui
Gomes, Maria Fernanda
author_sort Martins, Luísa
collection PubMed
description Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.
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spelling pubmed-46146382015-10-27 Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11) Martins, Luísa Lourenço, Rita Maia, Ana Lúcia Maciel, Paula Monteiro, Maria Isabel Pacheco, Lucinda Anselmo, João César, Rui Gomes, Maria Fernanda Clin Case Rep Case Reports Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder. John Wiley & Sons, Ltd 2015-10 2015-08-26 /pmc/articles/PMC4614638/ /pubmed/26509005 http://dx.doi.org/10.1002/ccr3.328 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Martins, Luísa
Lourenço, Rita
Maia, Ana Lúcia
Maciel, Paula
Monteiro, Maria Isabel
Pacheco, Lucinda
Anselmo, João
César, Rui
Gomes, Maria Fernanda
Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title_full Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title_fullStr Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title_full_unstemmed Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title_short Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)
title_sort transient neonatal diabetes due to a missense mutation (e227k) in the gene encoding the atp-sensitive potassium channel (kcnj11)
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614638/
https://www.ncbi.nlm.nih.gov/pubmed/26509005
http://dx.doi.org/10.1002/ccr3.328
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