congenital tufting enteropathy

An intractable watery diarrhoea of infancy (OMIM:613217), which is clinically characterised by failure to thrive and need for parenteral nutrition for normal growth and development. It pathologically manifests as villous atrophy, with absence of inflammation, and intestinal epithelial cell tufting in the duodenum and jejunum.

Molecular pathology
Defects in EPCAM, which encodes epithelial cell adhesion molecule, a relay molecule between intestinal epithelial cells and intraepithelial lymphocytes at the mucosa, cause congenital tufting enteropathy.

Mentioned in

References in periodicals archive

Galea Soler, "Congenital tufting enteropathy and chronic arthritis: a clinical and radiological perspective," BMJ Case Reports, 2016.

Giepmans, "Absence of cell-surface EpCAM in congenital tufting enteropathy," Human Molecular Genetics, vol.

Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy)

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