Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice

Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. Patients usually present with jaundice, pruritus, growth failure, and fat soluble vitamin deficiencies. We present two patients diagnosed with PFIC type 2...

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Autores principales: Tibesar, Eric, Karwowski, Christine, Hertel, Paula, Scheimann, Ann, Karnsakul, Wikrom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060322/
https://www.ncbi.nlm.nih.gov/pubmed/24991443
http://dx.doi.org/10.1155/2014/185923
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author Tibesar, Eric
Karwowski, Christine
Hertel, Paula
Scheimann, Ann
Karnsakul, Wikrom
author_facet Tibesar, Eric
Karwowski, Christine
Hertel, Paula
Scheimann, Ann
Karnsakul, Wikrom
author_sort Tibesar, Eric
collection PubMed
description Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. Patients usually present with jaundice, pruritus, growth failure, and fat soluble vitamin deficiencies. We present two patients diagnosed with PFIC type 2 due to severe coagulopathy and bleeding without jaundice.
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spelling pubmed-40603222014-07-02 Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice Tibesar, Eric Karwowski, Christine Hertel, Paula Scheimann, Ann Karnsakul, Wikrom Case Rep Pediatr Case Report Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. Patients usually present with jaundice, pruritus, growth failure, and fat soluble vitamin deficiencies. We present two patients diagnosed with PFIC type 2 due to severe coagulopathy and bleeding without jaundice. Hindawi Publishing Corporation 2014 2014-06-02 /pmc/articles/PMC4060322/ /pubmed/24991443 http://dx.doi.org/10.1155/2014/185923 Text en Copyright © 2014 Eric Tibesar et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Tibesar, Eric
Karwowski, Christine
Hertel, Paula
Scheimann, Ann
Karnsakul, Wikrom
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title_full Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title_fullStr Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title_full_unstemmed Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title_short Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice
title_sort two cases of progressive familial intrahepatic cholestasis type 2 presenting with severe coagulopathy without jaundice
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060322/
https://www.ncbi.nlm.nih.gov/pubmed/24991443
http://dx.doi.org/10.1155/2014/185923
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