The difficult path to diagnosis. A case of tufting enteropathy-Reference-Cited by-同舟云学术

The difficult path to diagnosis. A case of tufting enteropathy

Published:2024-01-18 Issue:1 Volume: Page:99-104
ISSN:1682-8658
Container-title:Experimental and Clinical Gastroenterology
language:
Short-container-title:ECG

Author:

Kovaleva A. A.¹^ORCID,Leonova I. A.²^ORCID,Sukhotskaya A. A.³^ORCID,Smorodin A. P.³^ORCID,Bairov V. G.³^ORCID,Anichkov N. M.⁴^ORCID,Kalinina E. Yu.⁴^ORCID,Davydova Z. V.⁴^ORCID,Fedotova E. P.⁴^ORCID

Affiliation:

1. Pavlov First Saint Petersburg State Medical University

2. Pavlov First Saint Petersburg State Medical University; Almazov National Medical Research Center

3. Almazov National Medical Research Center

4. Saint-Petersburg State Pediatric Medical University

Abstract

Tufted enteropathy is a rare autosomal recessive enteropathy with neonatal onset, accompanied by intractable diarrhea and malabsorption. The typical histological appearance is characterized by “bundles” of densely packed epithelial enterocytes. The etiology of this disease is mutations in the gene for the cell adhesion molecule EpCAM. The article presents a clinical case of confirmed tufting entropathy in a child.

Publisher

LLC Global Media Technology

Reference21 articles.

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