Challenges in the diagnosis and treatment of genetic cholestasis in adults
Thompson R, Vilarinho S, Miquel R, Keitel V. Challenges in the diagnosis and treatment of genetic cholestasis in adults. JHEP Reports 2026, 8: 101625. DOI: 10.1016/j.jhepr.2025.101625.Peer-Reviewed Original Research
Retention of biliary constituentsBiliary constituentsBile duct injuryEnterohepatic circulationExtrahepatic bile ductGenetic variantsBile acidsBile duct epitheliumEnterohepatic circulation of bile acidsMultidisciplinary case discussionCirculation of bile acidsGenetic cholestasisClinical presentationDuct injuryDiagnostic workupPharmacological interruptionLiver histologyUrsodeoxycholic acidBile ductCholestasisDuct epitheliumGenetic testingCholangiopathyMedication intakeBile formation