Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Alsagheir, Afaf I, AlMutair, Angham, Bakhamis, Sarah, Aletani, Lujain, Alhumaidi, Shahad, Bin Abbas, Bassam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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
_version_ 1785122031129329664
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
work_keys_str_mv AT alsagheirafafi isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview
AT almutairangham isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview
AT bakhamissarah isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview
AT aletanilujain isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview
AT alhumaidishahad isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview
AT binabbasbassam isolatedpancreaticagenesissecondarytoptf1agenemutationacaseseriesandliteraturereview