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Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations

Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding th...

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Autores principales: Alkhalifa, Shooq, Darwish, Aysha, Awadh, Mohamed, Alkhalifa, Salman M., Darwish, Abdulla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9891835/
https://www.ncbi.nlm.nih.gov/pubmed/36743443
http://dx.doi.org/10.1155/2023/6301065
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author Alkhalifa, Shooq
Darwish, Aysha
Awadh, Mohamed
Alkhalifa, Salman M.
Darwish, Abdulla
author_facet Alkhalifa, Shooq
Darwish, Aysha
Awadh, Mohamed
Alkhalifa, Salman M.
Darwish, Abdulla
author_sort Alkhalifa, Shooq
collection PubMed
description Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs).
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spelling pubmed-98918352023-02-02 Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations Alkhalifa, Shooq Darwish, Aysha Awadh, Mohamed Alkhalifa, Salman M. Darwish, Abdulla Case Rep Pediatr Case Report Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia (IED), is a rare autosomal recessive disorder due to EPCAM gene mutation. It is a rare congenital enteropathy that presents in early infancy as an intractable diarrhea that is independent of breast formula feeding that requires life-long total parental nutrition (TPN) to acquire adequate calories and fluid intake or small bowel transplantation in severe cases. Here, we report a case of intestinal failure due to congenital tufting enteropathy in a 3-year-old girl who presented with loose stools and failure to thrive. This study aims to review the literature about CTE and discuss the clinicopathological aspects and to be able to distinguish it from other causes of congenital diarrheal disorders (CDDs). Hindawi 2023-01-25 /pmc/articles/PMC9891835/ /pubmed/36743443 http://dx.doi.org/10.1155/2023/6301065 Text en Copyright © 2023 Shooq Alkhalifa et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Alkhalifa, Shooq
Darwish, Aysha
Awadh, Mohamed
Alkhalifa, Salman M.
Darwish, Abdulla
Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title_full Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title_fullStr Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title_full_unstemmed Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title_short Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations
title_sort congenital tufting enteropathy, a rare cause of diarrhea and malnourishment in arab child with genetic and histopathology investigations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9891835/
https://www.ncbi.nlm.nih.gov/pubmed/36743443
http://dx.doi.org/10.1155/2023/6301065
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