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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F18%3A43916975" target="_blank" >RIV/00216208:11120/18:43916975 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1155/2018/2313675" target="_blank" >https://doi.org/10.1155/2018/2313675</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1155/2018/2313675" target="_blank" >10.1155/2018/2313675</a>

Result language

angličtina

Original language name

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

Original language description

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 and intrahepatic cholestasis in pregnancy. This review summarises the current knowledge of the clinical manifestations, genetics, and molecular mechanisms of these diseases and briefly outlines the therapeutic options, both conservative and invasive, with an outlook for future personalised therapeutic strategies.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30219 - Gastroenterology and hepatology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Canadian Journal of Gastroenterology and Hepatology

ISSN

2291-2797

e-ISSN

—

Volume of the periodical

2018

Issue of the periodical within the volume

July

Country of publishing house

GB - UNITED KINGDOM

Number of pages

12

Pages from-to

"Article 2313675"

UT code for WoS article

000440933900001

EID of the result in the Scopus database

2-s2.0-85051257671