title: Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
abstract: Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are two rare autosomal recessive disorders, characterized by cholestasis. They are related to mutations in hepatocellular transport system genes involved in bile formation. The differentiation between PFIC and BRIC is based on phenotypic presentation: PFIC is a progressive disease, with evolution to end-stage liver disease. BRIC is characterized by intermittent recurrent cholestatic episodes, with irresistible pruritus, mostly without evident liver damage. Between symptomatic periods, patients are completely asymptomatic. In this article, a short overview of the aetiology, the clinical and diagnostic characteristics and the therapy of both PFIC and BRIC are given.
authors: Department of Hepatology and Gastroenterology, Ghent University Hospital, Ghent, Belgium. beatrijs_strubbe@yahoo.com
authors: B
authors: B
authors: Strubbe
authors: A
authors: A
authors: Geerts
authors: H
authors: H
authors: Van Vlierberghe
authors: I
authors: I
authors: Colle
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000378:metabolism*; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000378:metabolism*; D000251:Adenosine Triphosphatases / Q000378:metabolism*; D001646:Bile / Q000378:metabolism*; D001648:Bile Canaliculi / Q000378:metabolism / Q000503:physiopathology; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002908:Chronic Disease; D003937:Diagnosis, Differential; D019468:Disease Management; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D006801:Humans; D054539:Medication Therapy Management; D012008:Recurrence; D016896:Treatment Outcome
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