tufting enteropathy pathology outlines

Vitamin A levels could be average, while vitamin K levels could be elevated [26]. One study showed that EpCAM plays a critical role in forming functional tight junctions in the intestinal epithelium by recruiting claudin protein [40]. Histological examination of the small bowel shows varying degrees of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria. 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). Congenital tufting enteropathy in the era of molecular genetics J Pediatr Gastroenterol Nutr. History. Generally, management should be based on appropriate parenteral nutrition and timely intestinal transplantation. The etiology of CDD mainly includes the following four categories: intestinal epithelial dysfunction, defects of enteroendocrine cells, abnormalities in enterocytes, and anomalies in the regulation of the intestinal immune response [3]. After analyzing previous reports on syndromic CTE and SPINT2, we found 35 mutations in SPINT2 from 6 studies (Table 3) [2, 16, 17, 29–31], including 3 noncoding/splicing mutations, 2 frameshift/truncation mutations, and 6 in-frame deletions or missense mutations. A. Mendelsohn et al., “Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys),”, C. Azzopardi, E. Pullicino, B. Coleiro, and S. Galea Soler, “Congenital tufting enteropathy and chronic arthritis: a clinical and radiological perspective,”, A. W. Overeem, C. Posovszky, E. H. Rings, B. N. G. Giepmans, and S. C. D. van IJzendoorn, “The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders,”, J. Kammermeier, S. Drury, C. T. James et al., “Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis,”, M. Herlyn, Z. Steplewski, D. Herlyn, and H. Koprowski, “Colorectal carcinoma-specific antigen: detection by means of monoclonal antibodies,”, S. V. Litvinov, M. P. Velders, H. A. Bakker, G. J. Fleuren, and S. O. Warnaar, “Ep-CAM: a human epithelial antigen is a homophilic cell-cell adhesion molecule,”, A. Gaber, S. J. Kim, R. M. Kaake et al., “EpCAM homo-oligomerization is not the basis for its role in cell-cell adhesion,”, T. Tsaktanis, H. Kremling, M. Pavšič et al., “Cleavage and cell adhesion properties of human epithelial cell adhesion molecule (HEPCAM),”, M. Ladwein, U. F. Pape, D. S. Schmidt et al., “The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7,”, Z. Lei, T. Maeda, A. Tamura et al., “EpCAM contributes to formation of functional tight junction in the intestinal epithelium by recruiting claudin proteins,”, S. AlMahamed and A. Hammo, “New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia,”, J. L. Mueller, M. D. McGeough, C. A. Peña, and M. Sivagnanam, “Functional consequences ofEpCammutation in mice and men,”, K. L. Pêgas, E. Cambruzzi, R. S. Ferrelli et al., “Tufting enteropathy with EpCAM mutation: case report,”, C. Thoeni, A. Amir, C. Guo et al., “A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy,”, U. Schnell, J. Kuipers, J. L. Mueller, A. Veenstra-Algra, M. Sivagnanam, and B. N. G. Giepmans, “Absence of cell-surface EpCAM in congenital tufting enteropathy,”, K. Slanchev, T. J. Carney, M. P. Stemmler et al., “The epithelial cell adhesion molecule EpCAM is required for epithelial morphogenesis and integrity during zebrafish epiboly and skin development,”, E. J. Villablanca, A. Renucci, D. Sapède et al., “Control of cell migration in the zebrafish lateral line: implication of the gene “tumour-associated calcium signal transducer,” tacstd,”, E. Guerra, R. Lattanzio, R. la Sorda et al., “mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/, M. R. Gaiser, T. Lammermann, X. Feng et al., “Cancer-associated epithelial cell adhesion molecule (EpCAM; CD326) enables epidermal Langerhans cell motility and migration in vivo,”, C. J. Wu, X. Feng, M. Lu, S. Morimura, and M. C. Udey, “Matriptase-mediated cleavage of EpCAM destabilizes claudins and dysregulates intestinal epithelial homeostasis,”, Y. Liu and J. Yang, “Hepatocyte growth factor: new arsenal in the fights against renal fibrosis?”, L. Holt-Danborg, J. Vodopiutz, A. W. Nonboe et al., “SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase,”, S. Friis, K. U. Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach. It presents clinical and histological heterogeneity and may be associated with … The cellular and molecular basis of CTE pathology has been elusive. The prevalence is higher in areas with high degrees of … Lemale J(1), Coulomb A, Dubern B, Boudjemaa S, Viola S, Josset P, Tounian P, Girardet JP. Histological examination showed evidence of collagenous enterocolitis. Tufting enteropathy (TE) is a congenital abnormality of intestinal mucosa development characterized by severe intestinal failure requiring parenteral … In addition, almost no inflammatory cell infiltration was found in the lamina propria, while in some cases reported elsewhere, the numbers of inflammatory cells could increase in the lamina propria, suggesting that the increase in inflammatory cells is not a criterion for CTE exclusion [34]. H&E stain. The deficiency of SPINT2 in the intestine (SPINT2-/- mice) was found to be responsible for a CTE-like phenotype characterized by an inability to gain weight after birth and failure to thrive, accompanied by reduced expression of prostasin and EpCAM protein, followed by a progressive loss of claudin-7, claudin-1, and E-cadherin but an increase in gene and protein expression of claudin-4 [58]. Although the protein EpCAM seemed detectable by immunohistochemistry in some cases with missense mutations, it is likely that an abnormal extracellular domain of EpCAM was formed, which might impair the related signaling pathways [16]. Microscopic. Tufting enteropathy is a chronic malabsorptive syndrome beginning in infancy that is characterized histopathologically by the presence of “tufts” of closely packed surface enterocytes in the bowel, along with features of villous atrophy and crypt hyperplasia ().The significance of these tufts is not fully understood, and there is no effective treatment (). Small intestine - Olmesartan enteropathy. Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. … Review articles are excluded from this waiver policy. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000–100,000 live births in Western Europe. 2007 Oct;16(4):211-21 ; Al-Mayouf SM, Alswaied N, Alkuraya FS, Almehaidib A, Faqih M. Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene …
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