Tufting Enteropathy with EpCAM Mutations in Two Siblings

Tufting enteropathy with EpCAM mutation: case report

“…Our patient presented atypical clinical features with minimal diarrhea episodes but severe malnutrition. In contrast to previous reports in the literature, this case showed an uncommon late-onset of clinical symptoms (2,4,5,6,9,12,14,16) .…”

“…The level of EpCAM expression correlates with the proliferative activity of intestinal cells, and inversely correlates with their differentiation. It is frequently upregulated in colon carcinomas (7,8,9,11,13,15,17,20) . Schnell et al described that all mutations related to TE were homozygous or compound heterozygous, which is consistent with autosomal recessive inheritance.…”

“…In this report, C66Y corresponded only to the heterozygous mutation (18) . Ko et al described two compound heterozygous mutations in siblings affected by TE: a donor splice site mutation in intron 5 (c.491 + 1G > A), and a novel nonsense mutation in exon 3 (c.316A > T, Lys106X) (9) .…”

Current Status of Intestinal Failure and Intestinal Transplantation

“…They result from a variety of abnormalities in the enteric nervous system or musculature, and can affect variable segments of the gastrointestinal tract. Congenital diseases of enterocyte development such as microvillus inclusion disease and tufting enteropathy [8] cause intestinal failure. Most children suffering from congenital enteropathy remain permanently dependent on total parenteral nutrition (TPN).…”

Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy

“…Neither inflammation nor infections causes CTE 4 . The histopathology shows a crypt hyperplasia, villous atrophy, and epithelial tufts in the small intestine; the enterocytes are formed as a teardrop 5,1,2,6,7,8 . Recent identification of causative mutations of genes such as EpCAM and SPINT2 extend our knowledge about this disease 9,4 .…”