Microvillous inclusion disease

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Microvillous inclusion disease
OMIM 251850
DiseasesDB 32409
eMedicine ped/461 

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Microvillous inclusion disease, also known as Davidson's disease, congenital microvillous atrophy and, less specifically, microvillous atrophy, is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.[1][2]

Presentation

It is characterized by chronic, intractable diarrhoea in new-born infants, starting in the first few days of life.[3]

Prognosis

It is nearly always fatal unless, like short bowel syndrome patients, treated with parenteral nutrition or an intestinal transplant.[3] The patient is often classified as being in "intestinal failure" and treated with the cohort of patients known as "short bowel syndrome" patients.

Pathophysiology

It is caused by a congenital lack of apical microvilli in the epithelial cells of the small intestine.[4]

Diagnosis

Diagnosis in utero is currently not possible as the gene(s) involved in the disease are not known;[5] diagnosis is made by biopsy of the small intestine.[1]

Biopsy

The appearance of microvillous inclusion disease on light microscopy is similar to celiac sprue; however, it usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue and stains positive for carcinoembryonic antigen (CEA).[2] The definitive diagnosis is dependent on electron microscopy.[6]

Differential diagnosis

The differential diagnosis of chronic and intractable diarrhea is:[5]

  • Intestinal epithelial dysplasia
  • Syndromatic diarrhea
  • Immunoinflammatory enteropathy

Genetic prevalence

Microvillous inclusion disease has an autosomal recessive pattern of inheritance.

Microvillous inclusion disease is thought to be extremely rare; only, approximately, two dozen cases have been identified in the medical literature.[7]

History

Microvillous inclusion disease was first described in 1978 by Davidson et al.[8] It was originally described as familial enteropathy.

References

  1. 1.0 1.1 Chehade, Mirna; Sicherer, Scott H (2005), "Infantile food protein-induced enterocolitis syndrome", in David, Timothy J, Recent Advances in Paediatrics 22, London: Royal Society of Medicine Press, p. 140, ISBN 1853155721
  2. 2.0 2.1 Mills SE, Carter D, Greenson JK, Oberman HA, Reuter V, Stoler MH. Sternberg's Diagnostic Surgical Pathology. 4th Ed. Lippincott Williams & Wilkins. Copyright 2004. ISBN 978-0-7817-4051-7.
  3. 3.0 3.1 Salvatore, S.; Hauser, B.; Vandenplas, Y. (2007), "Chronic enteropathy and feeding", in Cooke, Richard J.; Vandenplas, Yvan; Wahn, Ulrich, Nutrition Support for Infants and Children at Risk, Basel, Switzerland; New York: Karger, p. 123, ISBN 3805581947
  4. Arpin, M.; Crepaldi, T.; Louvard, D. (1999), "Cross-talk between Apical and Basolateral Domains of Epithelial Cells Regulates Microvillus Assembly", in Birchmeier, Walter; Birchmeier, Carmen, Epithelial Morphogenesis in Development and Disease, Amsterdam: Harwood Academic, p. 104, ISBN 9057024195
  5. 5.0 5.1 Ruemmele FM (2007). "Chronic enteropathy: molecular basis". Nestle Nutr Workshop Ser Pediatr Program. 59: 73–85, discussion 85–8. doi:10.1159/000098514. PMID 17245092.
  6. Kennea N, Norbury R, Anderson G, Tekay A (2001). "Congenital microvillous inclusion disease presenting as antenatal bowel obstruction". Ultrasound Obstet Gynecol. 17 (2): 172–4. doi:10.1046/j.1469-0705.2001.00211.x. PMID 11251929.
  7. Microvillous atrophy. Online Mendelian Inheritance in Man. Johns Hopkins University. URL: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251850. Accessed on: January 14, 2008.
  8. Davidson GP, Cutz E, Hamilton JR, Gall DG (1978). "Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy". Gastroenterology. 75 (5): 783–90. PMID 100367.

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