Microvillous inclusion disease
| Microvillus inclusion disease | |
|---|---|
| Other names | Davidson's disease |
 | |
| Microvillus inclusion disease has an autosomal recessive pattern of inheritance. | |
Microvillus inclusion disease, previously known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.[1][2]
Presentation[edit]
It is characterized by chronic, intractable diarrhea in new-born infants, starting in the first few days of life.[3] This results in metabolic acidosis and severe dehydration. Pregnancy and birth are usually normal.[citation needed]
Pathophysiology[edit]
It is caused by a congenital villus atrophy, atrophy of apical microvilli and intracellular accumulation of apical enzymes and transporters in the epithelial cells of the small intestine.[4] MVID is in most cases caused by mutations in the MYO5B gene. A minority of cases involves mutations in the STX3 gene.[citation needed]
Diagnosis[edit]
Prenatal screening in utero is currently offered by several medical centers since the gene(s) involved in the disease were recently discovered to be MYO5B;[5][6] Diagnosis is typically made by biopsy of the small intestine.[1]
Biopsy[edit]
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.[7]
Differential diagnosis[edit]
The differential diagnosis of chronic and intractable diarrhea is:[8]
- Intestinal epithelial dysplasia
- Syndromatic diarrhea
- Immunoinflammatory enteropathy
Prognosis[edit]
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.[citation needed]
One patient from the UK was documented as achieving nutritional independence at age 3.[9] On 26 June 2009, a six-year-old girl with microvillus inclusion disease became the third person in the UK to die of swine flu. This was attributed to her weakened immune system.[10]
Prevalence[edit]
Microvillus inclusion disease is extremely rare, however, no prevalence data have been published. An estimate of a few hundred children with the disease in Europe has been made but no time frame to which this count applies is given. Countries with a higher degrees of consanguinity experience higher prevalence rates due to its autosomal recessive transmission.[11]
History[edit]
Microvillus inclusion disease was first described in 1978 by Davidson et al.[12] It was originally described as familial enteropathy.[citation needed]
References[edit]
- ^ a b Chehade, Mirna; Sicherer, Scott H (2005). "Infantile food protein-induced enterocolitis syndrome". In David, Timothy J (ed.). Recent Advances in Paediatrics 22. London: Royal Society of Medicine Press. p. 140. ISBN 1-85315-572-1.
- ^ a b 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.
- ^ a b Salvatore, S.; Hauser, B.; Vandenplas, Y. (2007). "Chronic enteropathy and feeding". In Cooke, Richard J.; Vandenplas, Yvan; Wahn, Ulrich (eds.). Nutrition Support for Infants and Children at Risk. Basel, Switzerland; New York: Karger. p. 123. ISBN 978-3-8055-8194-3.
- ^ 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 (eds.). Epithelial Morphogenesis in Development and Disease. Amsterdam: Harwood Academic. p. 104. ISBN 90-5702-419-5.
- ^ Mueller T; Hess, MW; Schiefermeier, N; Pfaller, K; Ebner, HL; Heinz-Erian, P; Ponstingl, H; Partsch, J; et al. (2008). "MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity". Nat Genet. 40 (10): 1163–5. doi:10.1038/ng.225. PMID 18724368. S2CID 205345488.
- ^ Szperl A, Golachowska M, Rings E, IJzendoorn S, et al. (2011). "Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease". J Ped Gastroenterol Nutr. 52 (3): 307–13. doi:10.1097/MPG.0b013e3181eea177. PMC 3058815. PMID 21206382.
- ^ 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.
- ^ Ruemmele FM (2007). "Chronic enteropathy: molecular basis". Nestle Nutr Workshop Ser Pediatr Program. Series Set, 2007. 59: 73–85, discussion 85–8. doi:10.1159/000098514. ISBN 978-3-8055-8194-3. PMID 17245092.
- ^ Croft NM; Howatson, AG; Ling, SC; Nairn, L; Evans, TJ; Weaver, LT (2000). "Microvillous inclusion disease: An evolving Condition". J Pediatr Gastroenterol Nutr. 31 (2): 185–189. doi:10.1097/00005176-200008000-00019. PMID 10941974.
- ^ "Swine flu girl 'had tough life'". BBC News. 30 June 2009. Retrieved 12 May 2010.
- ^ Ruemmele, Frank M; Schmitz, Jacques; Goulet, Olivier (2006-06-26). "Microvillous inclusion disease (microvillous atrophy)". Orphanet Journal of Rare Diseases. 1: 22. doi:10.1186/1750-1172-1-22. ISSN 1750-1172. PMC 1523325. PMID 16800870.
- ^ 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. doi:10.1016/0016-5085(78)90458-4. PMID 100367.