Intestinal epithelial dysplasia (tufting enteropathy)

Abstract

Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence can be estimated at around 1/50,000-100,000 live births in Western Europe. The prevalence seems higher in areas with high degree of consanguinity and in patients of Arabic origin. Infants develop within the first days after birth a watery diarrhea persistent in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal rectal or esophageal atresia. IED is thought to be related to abnormal enterocytes development and/or differentiation. Nonspecific punctuated keratitis was reported in more than 60% of patients. Histology shows various degree of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium with disorganization of surface enterocytes with focal crowding, resembling tufts. Several associated specific features were reported, including abnormal deposition of laminin and heparan sulfate proteoglycan (HSPG) in the basement membrane, increased expression of desmoglein and ultrastructural changes in the desmosomes, and abnormal distribution of α2β1 integrin adhesion molecules. One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED. Parental consanguinity and/or affected siblings suggest an autosomal recessive transmission but the causative gene(s) have not been yet identified making prenatal diagnosis unavailable. Some infants have a milder phenotype than others but in most patients, the severity of the intestinal malabsorption even with enteral feeding make them totally dependent on daily long-term parenteral nutrition with a subsequent risk of complications. IED becomes an indication for intestinal transplantation, while timing of referral for it is crucial before the onset of severe complications.

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

“…The same child also had a congenital heart disease, a feature which was first described by Hartley et al [2010]. The differential diagnosis of THES includes other causes of autosomal recessive chronic diarrhea like microvillous inclusion disease [Ruemmele et al, 2006] and tufting enteropathy [Goulet et al, 2007]. However, both these conditions are associated with characteristic histological changes, which were absent in our patients (table 2).…”

Tufting Enteropathy with EpCAM Mutations in Two Siblings

“…1 Some infants have dysmorphic facial features and malformations including choanal atresia, esophageal atresia, or imperforate anus. 2,3 Watery diarrhea develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition indefinitely.…”

“…6,[8][9][10] The prevalence of tufting enteropathy is estimated at around 1/50,000-100,000 live births in Western Europe. 2 Recently, mutations in the epithelial cell adhesion molecule (EpCAM) gene have been identified as responsible for tufting enteropathy. 11 We report two Korean siblings with tufting enteropathy confirmed by genetic analysis.…”

La dysplasie épithéliale intestinale, ou quand l’intestin est sous « deux de tension » cellulaire

“…Deux d'entre elles sont particulièrement sévères : l'atrophie microvillositaire (AMV) et la dysplasie épi-théliale intestinale (DEI en français, CTE pour congenital tufting enteropathy, en anglais) [3]. La DEI a été décrite pour la première fois en 1994 [4] et plus en détail en 1995 [5].…”