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Congenital Tufting Enteropathy

Pathophysiology:

  • Mutations

    • Disordered fixation protein expression along the basolateral membrane of intestinal epithelium (especially in crypts), which leads to the consequence of tufts along villi.  
Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A. A founder effect at the EPCAM locus in Congenital  Tufting Enteropathy in the Arabic Gulf. Eur J Med Genet. 2011 May-Jun;54(3):319-22. doi: 10.1016/j.ejmg.2011.01.009. Epub 2011 Feb 26. PubMed
PMID: 21315192.
 
Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. Absence of cell-surface EpCAM in congenital tufting enteropathy. Hum Mol Genet. 2013 Jul 1;22(13):2566-71. doi: 10.1093/hmg/ddt105. Epub 2013 Mar 5. PubMed PMID: 23462293; PubMed Central PMCID: PMC3674798.

Normal

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Congenital Tufting Enteropathy

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Clinical manifestations:

  • Congenital diarrhea.
  • Diarrhea is usually not extraordinarily severe, and improves over time.
  • Metabolic acidosis is unusual (unlike microvillus inclusion disease)
 

Nutrition recommendations:

  • Encourage patients to eat by mouth since birth.
  • Supplement nutrition for adequate growth.
  • Water and electrolyte absoption is fair, so PN volume does not need to be so high (check urine studies).
 

Natural history:

  • Enteral absorption may improve over time.
  • Anecdotally some patients may wean off PN as teenagers.
  • Tufting may be part of a systemic disease.

  

Lemale J, Coulomb A, Dubern B, Boudjemaa S, Viola S, Josset P, Tounian P, Girardet JP. Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. J Pediatr Gastroenterol Nutr. 2011 Jun;52(6):734-9. doi: 10.1097/MPG.0b013e31820731db. PubMed PMID: 21478758.