Microvillus inclusion disease: a short review of literature
Gastroenterology and Hepatology from Bed to Bench,
Vol. 18 No. 1 (2025),
4 January 2025
https://doi.org/10.22037/ghfbb.v18i1.3069
Abstract
Microvillus inclusion disease (MVID) is a rare autosomal recessive disease was first discovered in 1978 by Davidson et al with significant mortality and morbidity within the first year of life. Myosin 5B, Syntaxin 3, UNC45A and STXBP2 are the common genetic mutations associated with this disease. It presents with mainly with abdominal symptoms like diarrhoea, abdominal distension, vomiting electrolyte imbalance. Sometimes depending on the genetic mutation involved the phenotypic manifestation can vary. Certain genetic mutations are associated with cholestasis, dilated bowel loops and metabolic acidosis whereas some presents with nystagmus and reduced visual acuity. Electron microscopy of duodenal biopsy sample is used as diagnostic tool. Absence or shortening of apical microvilli with microvillus inclusion bodies in mature enterocytes which are pathognomonic to MVD alongside periodic acid schiff (PAS)-positive granules or vesicles in the immature enterocytes.The mainstay of treatment is long-term total parenteral nutrition. Some cases might require intestinal transplant. However both these treatment options are associated with increased risk complications. Some ground breaking research using active ligands and enteroids can be quite promising options to ameliorate the disease.
- Rare genetic disease
- gasteroenterology
- pead
How to Cite
References
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