GENETIC PREDICTION OF PARENTERAL NUTRITION WEANING IN CONGENITAL ENTEROPATHIES

Background: Congenital enteropathies are a heterogeneous group of rare genetic disorders characterized by structural and functional abnormalities in the intestinal epithelium, leading to intestinal failure. Parenteral nutrition (PN) is the standard treatment and allows patient survival, but remains a symptomatic therapy. In certain conditions, PN weaning is possible, with dietary interventions or intestinal transplantation (ITx), emphasizing the crucial role of understanding genotype-phenotype correlations in guiding therapeutic strategies.

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Publication Details

Journal
Intestinal failure.
Published
2025-01-01
DOI
https://doi.org/10.1016/j.intf.2025.100095
Primary Topic
Infant Nutrition and Health
Type
article
Field-Weighted Citation Impact
0.00
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article

GENETIC PREDICTION OF PARENTERAL NUTRITION WEANING IN CONGENITAL ENTEROPATHIES

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Intestinal failure.
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GENETIC PREDICTION OF PARENTERAL NUTRITION WEANING IN CONGENITAL ENTEROPATHIES

Cécile Lambe, Cécile Talbotec, D. Berrebi, Elise Payen, Jade Allee, Fabienne Charbit Henrion, Philippe Brabent
article en

Abstract

Background: Congenital enteropathies are a heterogeneous group of rare genetic disorders characterized by structural and functional abnormalities in the intestinal epithelium, leading to intestinal failure. Parenteral nutrition (PN) is the standard treatment and allows patient survival, but remains a symptomatic therapy. In certain conditions, PN weaning is possible, with dietary interventions or intestinal transplantation (ITx), emphasizing the crucial role of understanding genotype-phenotype correlations in guiding therapeutic strategies.

Intestinal failure.Vol. 6
Hôpital Necker-Enfants Malades (FR), Université Paris Cité (FR), Hôpital des Enfants (FR)
Openalex Percentile: Top 72%
Infant Nutrition and Health
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