Congenital enteropathy; Congenital familial intractable diarrhea with enterocytes assembly abnormalities; Congenital tufting enteropathy; Intestinal epithelial dysplasia
Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and persistent villous atrophy with low or no mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. TE is a rare cause of severe diarrhea in the first week of life accompanied with various dysmorphic features including choanal atresia, oesophageal/rectal atresia in some of the affected infants. Nonspecific punctuated keratitis was reported in more than 60% of patients. TE is characterized by clinical and histological heterogeneity and association with malformations or other epithelial diseases. It is thought to be related to abnormal enterocytes development and/or...
References and Further Reading
- Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B. Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., & Hoffman, H. M. (2008). Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology, 135(2), 429–437.CrossRefGoogle Scholar