Rare Disease Highlight: Microvillus Inclusion Disease

Microvillus inclusion disease (MVID) is a congenital intestinal disorder characterized by chronic, severe, and watery diarrhea due to insufficient absorption of nutrients during digestion. Two forms of MVID have been identified: early-onset MVID, which develops within hours or days of birth, and late-onset MVID, which occurs in the first months of life1. Affected infants experience malnutrition, dehydration, developmental delays, and severe metabolic acidosis. The cause of MVID is unknown, however, the disease can be attributed to mutations in the MYO5B gene which result in abnormal microvilli, which reduce the intestine’s ability to absorb necessary nutrients and fluids. While the exact prevalence of MVID is unknown, the disease is extremely rare with less than 200 cases reported in Europe since it was first described in 1978 by GP Davidson3.  No medical treatment has been successful in overcoming MVID-associated intestinal failure. Affected infants remain dependent on total parenteral nutrition or intravenous replacement of fluid and electrolytes life-long4. Due to the severity of the disease, the prognosis for MVID is poor as a result of severe dehydration, metabolic imbalance, and sepsis5.

References used
  1. Microvillus inclusion disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease. Accessed July 12, 2019.
  2. RESERVED IU–AR. Orphanet: Microvillus inclusion disease. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2290&lng=EN. Accessed July 12, 2019.
  3. Towards understanding microvillus inclusion disease. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733813/. Accessed July 12, 2019.
  4. Bunn SK, Beath SV, McKeirnan PJ, et al. Treatment of Microvillus Inclusion Disease by Intestinal Transplantation. Journal of Pediatric Gastroenterology and Nutrition. 2000;31(2):176.
  5. Ruemmele FM, Schmitz J, Goulet O. Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis. 2006;1:22. doi:10.1186/1750-1172-1-22

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