Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice. (2nd June 2014)

• Record Type: Journal Article
• Authors: Tibesar, Eric; Karwowski, Christine; Hertel, Paula; Scheimann, Ann; Karnsakul, Wikrom
• Other Names: Takaya Junji Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2014(2014)
• Publication Date: 2014-06-02
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2014/185923
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : 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.