Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression

JPGN Reports · 6 authors, 4 centres

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TL;DR

This study reports the long-term follow-up of two siblings with tufting enteropathy (TE) caused by a homozygous EPCAM mutation p.Asp253Asn.

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This study reports the long-term follow-up of two siblings with tufting enteropathy (TE) caused by a homozygous EPCAM mutation p.Asp253Asn. Duodenal biopsies showed characteristic histopathology and a complete lack of EPCAM protein expression on immunohistochemistry. Over time, the severity of diarrhea decreased after age 4. One patient developed episodic painful swelling consistent with arthritis.

STUDY TYPE

case_report

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pediatrics

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100% · A

ORIGINAL PAPER

PMC10191536

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression

JPGN Reports

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ABSTRACT

Abstract Tufting enteropathy (TE) is caused by recessive epithelial cell adhesion molecule ( EPCAM ) mutations, features congenital intractable diarrhea, growth retardation, and a characteristic disorganization of surface enterocytes. TE generally requires parenteral nutrition (PN) throughout childhood and into adulthood or a small bowel transplantation. We report 2 siblings with TE; a 3-year-old patient 1 intermittently receives partial PN, monthly somatostatin therapy, tolerates a normal diet and has a normal stool output. However, she is the sixth patient of 90 TE patients in literature, to develop a chronic arthritis. A 12-year-old patient 2 is on a normal diet, and did not require PN for the past 8 years. Duodenal biopsies showed characteristic tufts, and a complete lack of EPCAM staining. Both siblings were homozygous for EPCAM mutation c.757G>A (p.Asp253Asn). This observation shows that an overall favorable outcome can be obtained in TE, even with abrogated intestinal EPCAM expression. Keywords: arthritis, catch-up growth, favorable outcome, parenteral nutrition, weaning

CITATION EXPORT

Oğuz Ozler, Andrea Brunner-Véber, Parmis Fatih et al.. Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression. JPGN Reports. (2020). https://doi.org/10.1097/PG9.0000000000000029

AUTHORS

6 · 4 CENTRES

Oğuz Ozler, Andrea Brunner-Véber, Parmis Fatih, Thomas Müller, Andreas R Janecke, Cigdem Arikan

From the *Koc University School of Medicine, Pediatric Gastroenterology and Hepatology, Organ Transplantation and Research Center, Koc University Research Center for Translational Medicine (KUTTAM), Istanbul, Turkey
†Institut für Pathologie, Neuropathologie und Molekularpathologie, Medical University of Innsbruck, Innsbruck, Austria
‡Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
§Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.