Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation

Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic d...

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Autores principales: Sood, Shawn, Landreth, Hannah, Bustinza, Jessee, Chalmers, Laura, Thukaram, Roopa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433553/
https://www.ncbi.nlm.nih.gov/pubmed/28540314
http://dx.doi.org/10.1177/2324709617698718
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author Sood, Shawn
Landreth, Hannah
Bustinza, Jessee
Chalmers, Laura
Thukaram, Roopa
author_facet Sood, Shawn
Landreth, Hannah
Bustinza, Jessee
Chalmers, Laura
Thukaram, Roopa
author_sort Sood, Shawn
collection PubMed
description Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment.
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spelling pubmed-54335532017-05-24 Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation Sood, Shawn Landreth, Hannah Bustinza, Jessee Chalmers, Laura Thukaram, Roopa J Investig Med High Impact Case Rep Case Report Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment. SAGE Publications 2017-03-24 /pmc/articles/PMC5433553/ /pubmed/28540314 http://dx.doi.org/10.1177/2324709617698718 Text en © 2017 American Federation for Medical Research http://creativecommons.org/licenses/by/3.0/ This article is distributed under the terms of the Creative Commons Attribution 3.0 License (http://www.creativecommons.org/licenses/by/3.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Sood, Shawn
Landreth, Hannah
Bustinza, Jessee
Chalmers, Laura
Thukaram, Roopa
Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title_full Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title_fullStr Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title_full_unstemmed Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title_short Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation
title_sort neonatal diabetes: case report of a 9-week-old presenting diabetic ketoacidosis due to an activating abcc8 gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433553/
https://www.ncbi.nlm.nih.gov/pubmed/28540314
http://dx.doi.org/10.1177/2324709617698718
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