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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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2014/185923 |
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| _version_ | 1832549428201783296 |
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| author | Eric Tibesar Christine Karwowski Paula Hertel Ann Scheimann Wikrom Karnsakul |
| author_facet | Eric Tibesar Christine Karwowski Paula Hertel Ann Scheimann Wikrom Karnsakul |
| author_sort | Eric Tibesar |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-2cc49065aa754c25bd59f11c54a3c625 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2cc49065aa754c25bd59f11c54a3c6252025-02-03T06:11:13ZengWileyCase Reports in Pediatrics2090-68032090-68112014-01-01201410.1155/2014/185923185923Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without JaundiceEric Tibesar0Christine Karwowski1Paula Hertel2Ann Scheimann3Wikrom Karnsakul4Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USADivision of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USADivision of Pediatric Gastroenterology, Texas Children’s Hospital, 6621 Fannin Street, Houston, TX 77030, USADivision of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USADivision of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USAProgressive 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.http://dx.doi.org/10.1155/2014/185923 |
| spellingShingle | Eric Tibesar Christine Karwowski Paula Hertel Ann Scheimann Wikrom Karnsakul Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2014/185923 |
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