Microvillous inclusion disease
| Microvillous inclusion disease | |
| OMIM | 251850 |
|---|---|
| DiseasesDB | 32409 |
| eMedicine | ped/461 |
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 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
- ↑ 1.0 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
- ↑ 2.0 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.
- ↑ 3.0 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
- ↑ 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
- ↑ 5.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.