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Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report

Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn’s-like disease is observed in up to 24–77% of GDS Ib cases. Recentl...

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Autores principales: Calia, Margherita, Arosio, Andrea Mario Luciano, Crescitelli, Viola, Fornari, Anna, Pretese, Roberta, Gasperini, Serena, Zuin, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10540602/
https://www.ncbi.nlm.nih.gov/pubmed/37779861
http://dx.doi.org/10.1177/17562848231202138
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author Calia, Margherita
Arosio, Andrea Mario Luciano
Crescitelli, Viola
Fornari, Anna
Pretese, Roberta
Gasperini, Serena
Zuin, Giovanna
author_facet Calia, Margherita
Arosio, Andrea Mario Luciano
Crescitelli, Viola
Fornari, Anna
Pretese, Roberta
Gasperini, Serena
Zuin, Giovanna
author_sort Calia, Margherita
collection PubMed
description Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn’s-like disease is observed in up to 24–77% of GDS Ib cases. Recently, empagliflozin has been recommended as a treatment for neutrophil dysfunction in GDS Ib patients with or without Crohn’s-like disease. There are no guidelines for the treatment of inflammatory bowel disease (IBD) manifestation in GSD Ib patients, although some cases have been treated with granulocyte colony-stimulating factor and others with IBD conventional therapy, resulting in partial IBD remission. Herein, we describe a child with GDS Ib and Crohn’s-like disease who was treated with empagliflozin and achieved complete remission after 2 years of treatment. This case is the first one with such a long follow-up evaluation including endoscopic and magnetic resonance enterography assessment. Our clinical evidence of remission of IBD manifestation in our GSD Ib patient and the role of neutrophils in GDS Ib described in the literature suggest a strong association with IBD pathophysiology and neutrophil function. The use of empagliflozin resulted in significant improvements in gastrointestinal symptoms, reduced drug usage, and enhanced quality of life in the patient, with a favorable safety profile, offering a promising new therapeutic option for this population.
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spelling pubmed-105406022023-09-30 Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report Calia, Margherita Arosio, Andrea Mario Luciano Crescitelli, Viola Fornari, Anna Pretese, Roberta Gasperini, Serena Zuin, Giovanna Therap Adv Gastroenterol Case Report Glycogen storage disease type Ib (GSD Ib) is a rare hereditary glycogen disorder that results in inadequate maintenance of glucose homeostasis, accumulation of glycogen in different organs, loss and dysfunction of neutrophils. Crohn’s-like disease is observed in up to 24–77% of GDS Ib cases. Recently, empagliflozin has been recommended as a treatment for neutrophil dysfunction in GDS Ib patients with or without Crohn’s-like disease. There are no guidelines for the treatment of inflammatory bowel disease (IBD) manifestation in GSD Ib patients, although some cases have been treated with granulocyte colony-stimulating factor and others with IBD conventional therapy, resulting in partial IBD remission. Herein, we describe a child with GDS Ib and Crohn’s-like disease who was treated with empagliflozin and achieved complete remission after 2 years of treatment. This case is the first one with such a long follow-up evaluation including endoscopic and magnetic resonance enterography assessment. Our clinical evidence of remission of IBD manifestation in our GSD Ib patient and the role of neutrophils in GDS Ib described in the literature suggest a strong association with IBD pathophysiology and neutrophil function. The use of empagliflozin resulted in significant improvements in gastrointestinal symptoms, reduced drug usage, and enhanced quality of life in the patient, with a favorable safety profile, offering a promising new therapeutic option for this population. SAGE Publications 2023-09-28 /pmc/articles/PMC10540602/ /pubmed/37779861 http://dx.doi.org/10.1177/17562848231202138 Text en © The Author(s), 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial 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
Calia, Margherita
Arosio, Andrea Mario Luciano
Crescitelli, Viola
Fornari, Anna
Pretese, Roberta
Gasperini, Serena
Zuin, Giovanna
Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title_full Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title_fullStr Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title_full_unstemmed Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title_short Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
title_sort crohn-like disease long remission in a pediatric patient with glycogen storage disease type ib treated with empagliflozin: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10540602/
https://www.ncbi.nlm.nih.gov/pubmed/37779861
http://dx.doi.org/10.1177/17562848231202138
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