Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula. Zeck, F. & Reutter, H. Translational Pediatrics, 8(5):378–382, December, 2019.
doi  abstract   bibtex   
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: 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: 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: Further studies are needed to evaluate a possible association.
@article{zeck_gastrointestinal_2019,
	title = {Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula},
	volume = {8},
	issn = {2224-4344},
	doi = {10.21037/tp.2019.04.01},
	abstract = {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: 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: 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: Further studies are needed to evaluate a possible association.},
	language = {eng},
	number = {5},
	journal = {Translational Pediatrics},
	author = {Zeck, Florian and Reutter, Heiko},
	month = dec,
	year = {2019},
	keywords = {Esophageal atresia (EA), gastrointestinal disease, genetic risk factors},
	pages = {378--382},
}

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