A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters

Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene th...

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Autores principales: Amer, Syed, Hajira, Amtul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051073/
https://www.ncbi.nlm.nih.gov/pubmed/27785268
http://dx.doi.org/10.14740/gr609e
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author Amer, Syed
Hajira, Amtul
author_facet Amer, Syed
Hajira, Amtul
author_sort Amer, Syed
collection PubMed
description Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene that codes for aminophospholipid translocase protein and maintains canalicular membrane stability. Types 2 and 3 are caused by defect in genes that code for bile acid transporter and a phospholipid translocase, respectively. This review summarizes the genetics, clinical features, diagnosis and treatment of the three types of PFIC.
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spelling pubmed-50510732016-10-26 A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters Amer, Syed Hajira, Amtul Gastroenterology Res Review Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene that codes for aminophospholipid translocase protein and maintains canalicular membrane stability. Types 2 and 3 are caused by defect in genes that code for bile acid transporter and a phospholipid translocase, respectively. This review summarizes the genetics, clinical features, diagnosis and treatment of the three types of PFIC. Elmer Press 2014-04 2014-05-02 /pmc/articles/PMC5051073/ /pubmed/27785268 http://dx.doi.org/10.14740/gr609e Text en Copyright 2014, Amer et al. http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Amer, Syed
Hajira, Amtul
A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title_full A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title_fullStr A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title_full_unstemmed A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title_short A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
title_sort comprehensive review of progressive familial intrahepatic cholestasis (pfic): genetic disorders of hepatocanalicular transporters
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051073/
https://www.ncbi.nlm.nih.gov/pubmed/27785268
http://dx.doi.org/10.14740/gr609e
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