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Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report

Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are p...

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Autores principales: Niculae, Alexandru-Ștefan, Bolba, Claudia, Grama, Alina, Mariş, Alexandra, Bodea, Laura, Căinap, Simona, Mititelu, Alexandra, Fufezan, Otilia, Pop, Tudor Lucian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594453/
https://www.ncbi.nlm.nih.gov/pubmed/37873802
http://dx.doi.org/10.3390/pediatric15040056
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author Niculae, Alexandru-Ștefan
Bolba, Claudia
Grama, Alina
Mariş, Alexandra
Bodea, Laura
Căinap, Simona
Mititelu, Alexandra
Fufezan, Otilia
Pop, Tudor Lucian
author_facet Niculae, Alexandru-Ștefan
Bolba, Claudia
Grama, Alina
Mariş, Alexandra
Bodea, Laura
Căinap, Simona
Mititelu, Alexandra
Fufezan, Otilia
Pop, Tudor Lucian
author_sort Niculae, Alexandru-Ștefan
collection PubMed
description Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient’s need for comfort and lack of distress with the clinicians’ need for adequate information regarding the patient’s glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.
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spelling pubmed-105944532023-10-25 Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report Niculae, Alexandru-Ștefan Bolba, Claudia Grama, Alina Mariş, Alexandra Bodea, Laura Căinap, Simona Mititelu, Alexandra Fufezan, Otilia Pop, Tudor Lucian Pediatr Rep Case Report Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient’s need for comfort and lack of distress with the clinicians’ need for adequate information regarding the patient’s glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to. MDPI 2023-10-16 /pmc/articles/PMC10594453/ /pubmed/37873802 http://dx.doi.org/10.3390/pediatric15040056 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Niculae, Alexandru-Ștefan
Bolba, Claudia
Grama, Alina
Mariş, Alexandra
Bodea, Laura
Căinap, Simona
Mititelu, Alexandra
Fufezan, Otilia
Pop, Tudor Lucian
Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title_full Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title_fullStr Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title_full_unstemmed Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title_short Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants—Case Report
title_sort wolcott-rallison syndrome, a rare cause of permanent diabetes mellitus in infants—case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594453/
https://www.ncbi.nlm.nih.gov/pubmed/37873802
http://dx.doi.org/10.3390/pediatric15040056
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