title: Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.
abstract: Progressive familial intrahepatic cholestatic diseases encompass a group of autosomal recessive hereditary diseases, which usually present in infancy or childhood, with cholestasis of hepatocellular origin. The currently preferred nomenclature for the three PFIC disorders that have been characterized to date is FIC1 deficiency, BSEP deficiency, and MDR3 deficiency, relating to mutations in the specific genes involved in bile acid formation and transport. Since the first description of these diseases, extensive clinical, biochemical, and molecular studies have increased our understanding of the features specific to each one of them. This review focuses mainly on the liver histology, summarizing their characteristic pathologic features, the correlation to specific genotypes, and complications arising with disease progression.
authors.affiliation: The Lillian and Henry Stratton-Hans Popper Department of Pathology, Mount Sinai School of Medicine, New York, New York 10029, USA. Raffaella.Morotti@msnyuhealth.org
authors.forename: Raffaella A
authors.initials: RA
authors.lastname: Morotti
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Suchy
authors.forename: Margret S
authors.initials: MS
authors.lastname: Magid
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency / Q000235:genetics; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000172:deficiency / Q000235:genetics; D002780:Cholestasis, Intrahepatic / Q000145:classification / Q000235:genetics / Q000473:pathology; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008099:Liver / Q000473:pathology*; D010641:Phenotype; D011379:Prognosis; D009626:Terminology as Topic
chemical_list: C093491:ABCB11 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; C095122:multidrug resistance protein 3; D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human