Variable Intrafamilial Expression of ABCB4 Disease

ACG Case Rep J. 2023 Aug 11;10(8):e01113. doi: 10.14309/crj.0000000000001113. eCollection 2023 Aug.


Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in the ABCB4 gene. 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 same ABCB4 homozygous mutation.

Keywords: ABCB4; cholestasis; genotype; penetrance; phenotype; transplantation.

Publication types

  • Case Reports