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

• मुख्य लेखकों: Eric Tibesar (लेखक), Christine Karwowski (लेखक), Paula Hertel (लेखक), Ann Scheimann (लेखक), Wikrom Karnsakul (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hindawi Limited, 2014-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...