Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?
Inflammatory bowel disease
Swachman Diamond syndrome
Journal
Clinics and research in hepatology and gastroenterology
ISSN: 2210-741X
Titre abrégé: Clin Res Hepatol Gastroenterol
Pays: France
ID NLM: 101553659
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
20
02
2019
revised:
10
05
2019
accepted:
10
05
2019
pubmed:
15
6
2019
medline:
23
7
2021
entrez:
15
6
2019
Statut:
ppublish
Résumé
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency with malabsorption, malnutrition, growth failure and bone marrow failure. Furthermore, duodenal inflammatory enteropathy features may be present. For the first time, we report here a SDS case that is also diagnosed with inflammatory bowel disease (IBD). He was diagnosed with SDS at the age of two based on poor growth, severe exocrine pancreatic insufficiency with steatorrhea, neutropenia, recurrent infections and thoracic skeletal abnormalities. Ileocolonoscopy and histopathology revealed colonic Crohn's disease at the age of sixteen. Our report may encourage further studies elucidating the possible association between the SDS genetic defect and inflammatory bowel disease.
Identifiants
pubmed: 31196706
pii: S2210-7401(19)30103-2
doi: 10.1016/j.clinre.2019.05.006
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e10-e13Informations de copyright
Copyright © 2019 Elsevier Masson SAS. All rights reserved.