ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Dario DegiorgioAndrea CrosignaniCarla ColomboDomenico BordoMassimo ZuinEmanuela VassalloMarie-Louise SyrénDomenico A CovielloPier Maria Battezzati

Published in: Journal of gastroenterology (2015)

Cholangiopathies attributable to highly penetrant ABCB4 mutant alleles are identifiable in a substantial proportion of adults that generally have PFH-CLD. In PSC and ICC phenotypes, patients with MDR3 deficiency have early onset of disease.

Keyphrases

early onset
late onset
poor prognosis
liver injury
multidrug resistant
liver fibrosis
binding protein
drug induced
replacement therapy