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

• Główni autorzy: Eric Tibesar (Autor), Christine Karwowski (Autor), Paula Hertel (Autor), Ann Scheimann (Autor), Wikrom Karnsakul (Autor)
• Format: Książka
• Wydane: Hindawi Limited, 2014-01-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...