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Neonatal diabetes and protein losing enteropathy: a case report

BACKGROUND: Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 g...

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Autores principales: McMillan, Tamara, Girgis, Rose, Sellers, Elizabeth A. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839129/
https://www.ncbi.nlm.nih.gov/pubmed/27098067
http://dx.doi.org/10.1186/s12881-016-0296-0
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author McMillan, Tamara
Girgis, Rose
Sellers, Elizabeth A. C.
author_facet McMillan, Tamara
Girgis, Rose
Sellers, Elizabeth A. C.
author_sort McMillan, Tamara
collection PubMed
description BACKGROUND: Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 genes. Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis. Other anomalies associated with mutations of this gene have also been reported, most commonly congenital heart disease. CASE PRESENTATION: We report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia. His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. At 20 months of age he developed protein losing enteropathy. This has not previously been associated with GATA6 mutations and it is not known if this association is causal. CONCLUSION: The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. The association of protein losing enteropathy is unique to the reported case.
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spelling pubmed-48391292016-04-22 Neonatal diabetes and protein losing enteropathy: a case report McMillan, Tamara Girgis, Rose Sellers, Elizabeth A. C. BMC Med Genet Case Report BACKGROUND: Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent neonatal diabetes results predominantly from mutations in the KCNJ11 and ABCC8 genes. Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis. Other anomalies associated with mutations of this gene have also been reported, most commonly congenital heart disease. CASE PRESENTATION: We report the case of a Caucasian male infant diagnosed shortly after birth with neonatal diabetes, truncus arteriosus type III, ventricular septal defect, atrial septal defect, an absent gallbladder and a right inguinal hernia. His diabetes resulted from a de novo mutation of the GATA6 gene resulting in pancreatic hypoplasia. At 20 months of age he developed protein losing enteropathy. This has not previously been associated with GATA6 mutations and it is not known if this association is causal. CONCLUSION: The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality. The association of protein losing enteropathy is unique to the reported case. BioMed Central 2016-04-21 /pmc/articles/PMC4839129/ /pubmed/27098067 http://dx.doi.org/10.1186/s12881-016-0296-0 Text en © McMillan et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
McMillan, Tamara
Girgis, Rose
Sellers, Elizabeth A. C.
Neonatal diabetes and protein losing enteropathy: a case report
title Neonatal diabetes and protein losing enteropathy: a case report
title_full Neonatal diabetes and protein losing enteropathy: a case report
title_fullStr Neonatal diabetes and protein losing enteropathy: a case report
title_full_unstemmed Neonatal diabetes and protein losing enteropathy: a case report
title_short Neonatal diabetes and protein losing enteropathy: a case report
title_sort neonatal diabetes and protein losing enteropathy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839129/
https://www.ncbi.nlm.nih.gov/pubmed/27098067
http://dx.doi.org/10.1186/s12881-016-0296-0
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