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

• المؤلفون الرئيسيون: Eric Tibesar (مؤلف), Christine Karwowski (مؤلف), Paula Hertel (مؤلف), Ann Scheimann (مؤلف), Wikrom Karnsakul (مؤلف)
• التنسيق: كتاب
• منشور في: Hindawi Limited, 2014-01-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...