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Microvillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment

Alexandra Fiedler1, Kevin Brittan1, Wuttiporn Manatsathit2

  • 1Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE.

ACG Case Reports Journal
|October 15, 2024
PubMed
Summary

Microvillous inclusion disease (MVID) can mimic progressive familial intrahepatic cholestasis (PFIC). Novel compound heterozygous mutations in UNC45A were identified in a patient with MVID, and Odevixibat effectively managed cholestatic pruritus.

Keywords:
congenital diarrheaMVIDUNC45A mutationsintrahepatic cholestasismicrovillous inclusion diseaseodevixibat

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