Abstract

Congenital diarrheal diseases can be difficult to diagnose. Some diseases, such as microvillus inclusion disease and congenital tufting enteropathy (CTE), require biopsy diagnosis. CTE is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and significant morbidity1. The pathology in CTE is not uniform making diagnosis even more difficult. Last year, we identified mutations in the gene for epithelial cell adhesion molecule (EpCAM) in CTE2. Immunohistochemical staining for EpCAM was found to be absent in duodenal specimens from patients with CTE as compared with normal tissue. In this study we hypothesize that lack of EpCAM staining in the intestinal epithelium is specific to CTE. After IRB consent, fluorescent immunohistochemistry of available formaldehyde-fixed, paraffin-embedded duodenal biopsy tissue was performed. Tissue from 4 patients with Ulcerative Colitis, 4 patients with Crohn's disease, 4 patients with Celiac disease, 1 patient with microvillus inclusion disease, 2 patients with non specific duodenitis and 4 normal age matched controls was included. Immunohistochemical staining for EpCAM was performed using mouse monoclonal anti-EpCAM antibody (clone 323/A3; Abcam, Cambridge, MA). Fluorescent secondary antibody (mouse IgG) was applied. Isotype controls were also performed. EpCAM was found to be present in the epithelia of all tissue specimens except for those from patients with CTE and isotype controls. In this study we describe lack of EpCAM staining in patients with CTE that is not seen in other gastrointestinal diarrheal diseases. Immunohistochemical staining for EpCAM may be a useful tool in the evaluation of congenital and chronic diarrheal diseases and specifically in making the diagnosis of CTE. 1. Sherman, P.M., Mitchell, D.J. & Cutz, E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38, 16-26 (2004). 2. Sivagnanam M., Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan B., Libiger O.,Schork NJ, Lavine, JE, Taylor S., Newbury RO, Kolodner RD, Hoffman, HM Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug;135(2):429-37

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