Saudi Journal of Gastroenterology
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Year : 2017  |  Volume : 23  |  Issue : 2  |  Page : 123-126

New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia

Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia

Correspondence Address:
Abdelhai Hammo
Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam - 314444
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1319-3767.203359

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Background/Aim: 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. Patients and Methods: 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 EpCAM gene testing. Results: Molecular testing identified two novel mutations in the EpCAM 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. Conclusion: Mutations in EpCAM gene in Saudi children are characterized by severe phenotype and poor outcome.

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