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

• Κύριοι συγγραφείς: Eric Tibesar (Συγγραφέας), Christine Karwowski (Συγγραφέας), Paula Hertel (Συγγραφέας), Ann Scheimann (Συγγραφέας), Wikrom Karnsakul (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Hindawi Limited, 2014-01-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο 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...