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  • Title: Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
    Author: Strubbe B, Geerts A, Van Vlierberghe H, Colle I.
    Journal: Acta Gastroenterol Belg; 2012 Dec; 75(4):405-10. PubMed ID: 23402083.
    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.
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