{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:31:05Z","timestamp":1787776265948,"version":"build-2784847793"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,3]]},"abstract":"\n Background\/Aim:<\/jats:title>\n Tufting enteropathy (TE) is a rare cause of congenital intractable diarrhea in children. It often results in an irreversible intestinal failure and total parenteral nutrition (TPN) dependency; eventually, intestinal transplantation may be necessary. Data on TE from the Middle East are scarce; therefore, our aim of conducting this study was to clarify the clinical, histopathologic, and molecular features of TE in Saudi children.<\/jats:p>\n <\/jats:sec>\n \n Patients and Methods:<\/jats:title>\n \n This was a retrospective chart review of four children with TE who presented between January 2011 and December 2013 to King Fahad Specialist Hospital-Dammam (KFSH-D). The diagnosis of TE was suspected based on characteristic histopathologic intestinal biopsy findings and confirmed by\n EpCAM<\/jats:italic>\n gene testing.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Molecular testing identified two novel mutations in the\n EpCAM<\/jats:italic>\n gene in our patients. These mutations were associated with severe phenotype of the disease characterized by very early onset (median of 2 weeks of life), TPN dependency, and death during early childhood. Two patients died due to central line-related complications. Two patients were referred for intestinal transplantation due to loss of intravenous access in one and progressive liver disease in the other.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n Mutations in\n EpCAM<\/jats:italic>\n gene in Saudi children are characterized by severe phenotype and poor outcome.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/1319-3767.203359","type":"journal-article","created":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T06:55:36Z","timestamp":1680072936000},"page":"123-126","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["New Mutations of EpCAM Gene for Tufting Enteropathy in Saudi Arabia"],"prefix":"10.4103","volume":"23","author":[{"given":"Shaden","family":"AlMahamed","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhai","family":"Hammo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250523","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/j.1536-4801.1994.tb11192.x","article-title":"Tufting enteropathy: A newly recognized clinicopathological entity associated with refractory diarrhea in infants","volume":"18","author":"Reifen","year":"1994","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"R2-20250523","doi-asserted-by":"crossref","first-page":"407","DOI":"10.5009\/gnl.2010.4.3.407","article-title":"Tufting Enteropathy with EpCAM Mutations in Two Siblings","volume":"4","author":"Ko","year":"2010","journal-title":"Gut Liver"},{"key":"R3-20250523","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-2-20","article-title":"Intestinal epithelial dysplasia (tufting enteropathy)","volume":"2","author":"Goulet","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"R4-20250523","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s00439-013-1380-6","article-title":"Genetic characterization of congenital tufting enteropathy: Epcam associated phenotype and involvement of SPINT2 in the syndromic form","volume":"133","author":"Salomon J","year":"2014","journal-title":"Hum Genet"},{"key":"R5-20250523","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1053\/j.gastro.2008.05.036","article-title":"Identification of EpCAM as the gene for congenital tufting enteropathy","volume":"135","author":"Sivagnanam","year":"2008","journal-title":"Gastroenterology"},{"key":"R6-20250523","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1097\/PAS.0000000000000106","article-title":"Tufting enteropathy revisited: The utility of MOC31 (EpCAM) immunohistochemistry in diagnosis","volume":"38","author":"Ranganathan","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"R7-20250523","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1097\/00000478-200207000-00008","article-title":"CD10: A valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy)","volume":"26","author":"Groisman","year":"2002","journal-title":"Am J Surg Pathol"},{"key":"R8-20250523","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ejmg.2011.01.009","article-title":"A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf","volume":"54","author":"Salomon","year":"2011","journal-title":"Eur J Med Genet"},{"key":"R9-20250523","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ajo.2010.01.034","article-title":"Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy","volume":"150","author":"Roche","year":"2010","journal-title":"Am J Ophthalmol"},{"key":"R10-20250523","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1097\/MPG.0b013e3181acaeae","article-title":"Tufting Enteropathy and Chronic Arthritis: A Newly Recognized Association with a Novel EpCAM Gene Mutation","volume":"49","author":"Al-Mayouf","year":"2009","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"R11-20250523","first-page":"138","article-title":"Isolated small bowel transplantation for tufting enteropathy","volume":"36","author":"Paramesh","year":"2003","journal-title":"J Pediatr Gastroenterol Nutr"}],"container-title":["Saudi Journal of Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00936815-201723020-00009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:05:07Z","timestamp":1787774707000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00936815-201723020-00009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.4103\/1319-3767.203359","relation":{},"ISSN":["1319-3767","1998-4049"],"issn-type":[{"value":"1319-3767","type":"print"},{"value":"1998-4049","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"2016-06-23","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-11-21","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}