Moms of Children with PFIC Progressive Familial Intrahepatic Cholestasis(liver disease)

PFIC (Progressive Familial Intrahepatic Cholestasis) Type 1 PFIC-1 is characterized by a mutation in FIC-1, a gene predicted to encode a P-type ATPase that may be involved in phospholipid translocation. It was previously identified as a clinical entity known as Byler’s disease. Patients with PFIC may have severe cholestasis manifest by intense pruritus, fat malabsorption and fat soluble vitamin deficiencies. PFIC-1 may be associated with extrahepatic manifestations, especially after liver transplantation, since the FIC-1 gene is expressed in many tissues other than the liver.