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Scientific article
Case report
Open access
English

Variable Intrafamilial Expression of ABCB4 Disease

Published inACG case reports journal, vol. 10, no. 8, e01113
Publication date2023-08
First online date2023-08-11
Abstract

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in theABCB4gene. The clinical presentation of PFIC3 varies significantly, displaying incomplete penetrance without clear genotype-phenotype correlations. As such, the suitability of living-related liver donation for children with advanced disease has been questioned. We report here the long-term follow-up of a patient with PFIC3 resulting in decompensated cirrhosis at 11 years who successfully underwent living donor liver transplantation from his father, who carried the sameABCB4homozygous mutation.

eng
Keywords
  • ABCB4
  • Cholestasis
  • Genotype
  • Penetrance
  • Phenotype
  • Transplantation
Citation (ISO format)
ZAMPAGLIONE, Lucia et al. Variable Intrafamilial Expression of ABCB4 Disease. In: ACG case reports journal, 2023, vol. 10, n° 8, p. e01113. doi: 10.14309/crj.0000000000001113
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ISSN of the journal2326-3253
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Creation12/26/2023 1:12:18 PM
First validation01/04/2024 10:30:00 AM
Update time01/04/2024 10:30:00 AM
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