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Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review
Background Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. It is often related to genetic mutations; hence, genetic testing is warranted. Here, we present six cases of pancreatic agenesis resulting in neonatal diabetes with PTF1A ge...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580879/ https://www.ncbi.nlm.nih.gov/pubmed/37854477 http://dx.doi.org/10.7759/cureus.47202 |
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author | Alsagheir, Afaf I AlMutair, Angham Bakhamis, Sarah Aletani, Lujain Alhumaidi, Shahad Bin Abbas, Bassam |
author_facet | Alsagheir, Afaf I AlMutair, Angham Bakhamis, Sarah Aletani, Lujain Alhumaidi, Shahad Bin Abbas, Bassam |
author_sort | Alsagheir, Afaf I |
collection | PubMed |
description | Background Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. It is often related to genetic mutations; hence, genetic testing is warranted. Here, we present six cases of pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. Methodology This retrospective case series study included six pediatric cases of neonatal diabetes mellitus who are currently following at pediatric endocrinology clinics at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Results The study reported six patients with a mean age of eight years who presented with pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. In four patients, there was no evidence of cerebellar agenesis. Conclusions Neonatal diabetes is a challenging disease that must be diagnosed early to prevent subsequent metabolic complications. Genetic testing is recommended in neonates who present with prolonged duration of hyperglycemia. Insulin replacement is the treatment of choice. |
format | Online Article Text |
id | pubmed-10580879 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-105808792023-10-18 Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review Alsagheir, Afaf I AlMutair, Angham Bakhamis, Sarah Aletani, Lujain Alhumaidi, Shahad Bin Abbas, Bassam Cureus Pediatrics Background Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. It is often related to genetic mutations; hence, genetic testing is warranted. Here, we present six cases of pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. Methodology This retrospective case series study included six pediatric cases of neonatal diabetes mellitus who are currently following at pediatric endocrinology clinics at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Results The study reported six patients with a mean age of eight years who presented with pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. In four patients, there was no evidence of cerebellar agenesis. Conclusions Neonatal diabetes is a challenging disease that must be diagnosed early to prevent subsequent metabolic complications. Genetic testing is recommended in neonates who present with prolonged duration of hyperglycemia. Insulin replacement is the treatment of choice. Cureus 2023-10-17 /pmc/articles/PMC10580879/ /pubmed/37854477 http://dx.doi.org/10.7759/cureus.47202 Text en Copyright © 2023, Alsagheir et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pediatrics Alsagheir, Afaf I AlMutair, Angham Bakhamis, Sarah Aletani, Lujain Alhumaidi, Shahad Bin Abbas, Bassam Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title | Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title_full | Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title_fullStr | Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title_full_unstemmed | Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title_short | Isolated Pancreatic Agenesis Secondary to PTF1A Gene Mutation: A Case Series and Literature Review |
title_sort | isolated pancreatic agenesis secondary to ptf1a gene mutation: a case series and literature review |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580879/ https://www.ncbi.nlm.nih.gov/pubmed/37854477 http://dx.doi.org/10.7759/cureus.47202 |
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