Microvillus inclusion disease
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
| Microvillus inclusion disease | |
| Classification and external resources | |
| OMIM | 251850 |
|---|---|
| DiseasesDB | 32409 |
| eMedicine | ped/461 |
Microvillus inclusion disease, also 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
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.[citation needed] Pregnancy and birth are usually normal.
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
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
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
The differential diagnosis of chronic and intractable diarrhea is:[8]
- Intestinal epithelial dysplasia
- Syndromatic diarrhea
- Immunoinflammatory enteropathy
Genetic prevalence
Microvillus inclusion disease is thought to be extremely rare; only approximately 200 cases have been identified in children in Europe.[9]
One patient, a teenage female living in Arizona, suddenly began to grow microvilli after thirteen years of TPN (Total Parenteral Nutrition) and Lipid dependency. She now enjoys a typical teenage diet and is seen regularly by her Gastroenterologist.
One patient from the UK was documented to achieve nutritional independence at age 3.[10]
On 26 June 2009 a six-year-old girl diagnosed with microvillus inclusion disease became the third person in the UK to die of swine flu.[11]
History
Microvillus inclusion disease was first described in 1978 by Davidson et al.[12] 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 1-85315-572-1.
- ↑ 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 3-8055-8194-7.
- ↑ 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 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.
- ↑ 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 3-8055-8194-7. PMID 17245092.
- ↑ Online Mendelian Inheritance in Man (OMIM) Microvillus atrophy -251850
- ↑ Croft NM; Howatson, AG; Ling, SC; Nairn, L; Evans, TJ; Weaver, LT (2000). "Microvillous inclusion disease: An evolving Condition". J Pediatr Gastroenterol Nutr. 32 (2): 185–189. PMID 10941974.
- ↑ "Swine flu girl 'had tough life'". BBC News. 30 June 2009. Retrieved 12 May 2010.
- ↑ 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.