Abstract
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homozygous truncating mutations in STX3. Mutations in these genes disrupt trafficking between apical cargo vesicles and the apical plasma membrane. Thus, disturbed delivery of certain brush border membrane proteins is a common defect in MVID.
Highlights
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy
The disease was identified as a congenital enteropathy marked by villus atrophy, severe diarrhoea with partial sodium loss and malabsorption
Jejunal biopsies displayed in electron microscopy (EM) cytoplasmic inclusions with brush border microvilli on their inside
Summary
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. With the identification of mutations in a second gene, STX3, causative for MVID, molecular and genetic analyses gained pace pushing MVID to the ‘centre stage’ of molecular paediatric research. No causative cure is available, but small bowel transplantation (intestinal Tx) is able to cure the severe diarrhoea.
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