Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula.
Esophageal atresia (EA)
gastrointestinal disease
genetic risk factors
Journal
Translational pediatrics
ISSN: 2224-4344
Titre abrégé: Transl Pediatr
Pays: China
ID NLM: 101649179
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
entrez:
30
1
2020
pubmed:
30
1
2020
medline:
30
1
2020
Statut:
ppublish
Résumé
Several studies have identified genetic factors that are associated with the formation of isolated and non-isolated esophageal atresia with or without tracheoesophageal fistula (EA/TEF) in human and mice. Some of these genetic factors like FOXF1/Foxf1 are associated with Barrett syndrome, esophageal carcinoma or tumors of the gastrointestinal tract. Here, we investigated the prevalence of common gastrointestinal diseases among EA/TEF patients and their first- and second-degree relatives (parents and grandparents). We send out a questionnaire to 280 EA/TEF families asking for the presence of Barrett syndrome, Achalasia and carcinoma of the esophagus, the stomach, the small and large intestine among first- and second-degree relatives. In 32 of 124 families we found at least one affected family member with a possible association of colon carcinoma and the occurrence of EA/TEF within the same family. Further studies are needed to evaluate a possible association.
Sections du résumé
BACKGROUND
BACKGROUND
Several studies have identified genetic factors that are associated with the formation of isolated and non-isolated esophageal atresia with or without tracheoesophageal fistula (EA/TEF) in human and mice. Some of these genetic factors like FOXF1/Foxf1 are associated with Barrett syndrome, esophageal carcinoma or tumors of the gastrointestinal tract. Here, we investigated the prevalence of common gastrointestinal diseases among EA/TEF patients and their first- and second-degree relatives (parents and grandparents).
METHODS
METHODS
We send out a questionnaire to 280 EA/TEF families asking for the presence of Barrett syndrome, Achalasia and carcinoma of the esophagus, the stomach, the small and large intestine among first- and second-degree relatives.
RESULTS
RESULTS
In 32 of 124 families we found at least one affected family member with a possible association of colon carcinoma and the occurrence of EA/TEF within the same family.
CONCLUSIONS
CONCLUSIONS
Further studies are needed to evaluate a possible association.
Identifiants
pubmed: 31993350
doi: 10.21037/tp.2019.04.01
pii: tp-08-05-378
pmc: PMC6970114
doi:
Types de publication
Journal Article
Langues
eng
Pagination
378-382Informations de copyright
2019 Translational Pediatrics. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest: The authors have no conflicts of interest to declare.
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