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tufting enteropathy

MIM.613217

Thursday 14 December 2006

intestinal epithelial dysplasia; DIAR5; congenital tufting enteropathy; intestinal epitelial cell dysplasia

Definition: Intestinal epithelial dysplasia, or tufting enteropathy, is a clinicopathologic entity associated with refractory diarrhea in infants. This rare congenital enteropathy is present in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known.

Congenital tufting enteropathy (CTE) can be caused by mutation in the EPCAM gene (MIM.185535) on chromosome 2p21 or SPINT2 gene.

Molecular types

- EPCAM-associated tufting enteropathy
- SPINT2-associated tufting enteropathy

Synopsis

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.

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 alpha2beta1 integrin adhesion molecules.

One model of transgenic mice in which the gene encoding the transcription factor Elf3 is disrupted have morphologic features resembling IED.

Synopsis

- villous atrophy
- disorganization of the surface epithelium
- basement membrane anomalies

Association

- chronic arthritis (19820410)
- generalised skeletal dysplasia (parastremmatic dwarfism) (16900309)
- Coomb’s test positive haemolytic anaemia (16900309)
- thrombocytopenia (16900309)
- choanal atresia (17786112)

See also

- congenital intractable diarrhoea

  • microvillus inclusion disease

References

- Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis. 2007 Apr 20;2:20. PMID: 17448233

- El-Matary W, Dalzell AM, Kokai G, Davidson JE. Tufting enteropathy and skeletal dysplasia: is there a link? Eur J Pediatr. 2006 Aug 10; PMID: 16900309

- Patey N, Scoazec JY, Cuenod-Jabri B, Canioni D, Kedinger M, Goulet O, Brousse N. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology. 1997 Sep;113(3):833-43. PMID: 9287975

- Reifen RM, Cutz E, Griffiths AM, Ngan BY, Sherman PM. Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr. 1994 Apr;18(3):379-85. PMID: 8057225