New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications

Canadian Journal of Gastroenterology & Hepatology
Eva SticovaJoanna Pawłowska

Abstract

Cholestasis is characterised by impaired bile secretion and accumulation of bile salts in the organism. Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids. Phenotypic manifestation is highly variable, ranging from progressive familial intrahepatic cholestasis (PFIC)-with onset in early infancy and progression to end-stage liver disease-to a milder intermittent mostly nonprogressive form known as benign recurrent intrahepatic cholestasis (BRIC). Cases have been reported of initially benign episodic cholestasis that subsequently transitions to a persistent progressive form of the disease. Therefore, BRIC and PFIC seem to represent two extremes of a continuous spectrum of phenotypes that comprise one disease. Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4, TJP2, and NR1H4 have been described. In addition to familial intrahepatic cholestasis, partial defects in ATP8B1, ABCB11, and ABCB4 predispose patients to drug-induced cholestasis an...Continue Reading

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Citations

Nov 8, 2019·Human Mutation·Jing ZhangJian-She Wang
Jun 12, 2019·World Journal of Hepatology·Sarah Af HenkelJames E Squires
Nov 30, 2018·Frontiers in Endocrinology·Anca D PetrescuSharon DeMorrow
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Mar 7, 2021·Antioxidants·Mariapia VairettiClarissa Berardo
Jul 20, 2021·Journal of Gastroenterology and Hepatology·Mingxia ShiXiong Ma

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Methods Mentioned

BETA
biopsies
pharmacotherapies

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