Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome

Congenital tufting enteropathy (CTE), also named intestinal epithelial dysplasia, is a rare, autosomal recessive enteropathy with persistent and life-threatening intractable diarrhea early in life. Intractable diarrhea is present independent of breast or formula feeding. Most CTE patients require to...

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Bibliographic Details
Published in:Gastroenterology research and practice 2020-09, Vol.2020 (2020), p.1-10
Main Authors: Ji, Feng, Chen, Xueyang, Chen, Yishu, Cai, Changzhou
Format: Article
Language:English
Subjects:
Arthritis
Causes and theories of causation
Cell adhesion & migration
Congenital diseases
Cornea
Development and progression
Diarrhea
Disease
Diseases
Dysplasia
Etiology
Feces
Fistula
Genetic aspects
Genetic disorders
Medical screening
Mutation
Nutrition
Parenteral nutrition
Review
Technical education
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Summary:Congenital tufting enteropathy (CTE), also named intestinal epithelial dysplasia, is a rare, autosomal recessive enteropathy with persistent and life-threatening intractable diarrhea early in life. Intractable diarrhea is present independent of breast or formula feeding. Most CTE patients require total parenteral nutrition (TPN), and in severe cases, small bowel transplantation is needed. In the last decade, we have seen remarkable progress in certain aspects, such as the pathogenesis and diagnostic methods of the disease. Rapidly developing molecular analysis techniques have improved the diagnostic methods for CTE and reduced invasive and expensive procedures. Mutations in the gene encoding human epithelial cell adhesion molecule (EpCAM) were identified in the typical form of CTE, which usually exhibits isolated refractory diarrhea. Moreover, the syndromic form of CTE features anal and choanal atresias as well as ophthalmologic signs, which are associated with mutations in the gene encoding Serine Peptidase Inhibitor Kunitz Type 2 (SPINT2). This article reviews CTE disease based on its clinical and histological presentation, etiology and pathogenesis, and management and outcome.
ISSN:1687-6121
1687-630X
DOI:10.1155/2020/5608069