title: Progressive familial intrahepatic cholestasis and inborn errors of bile acid synthesis.
abstract: Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3). PFIC and inborn errors of bile acid synthesis (IEBAS) often present in infancy with cholestasis. The distinctive feature of PFIC 1 and 2 and IEBAS is a normal level of GGT, while IEBAS are suspected in patients with low plasma bile acids concentration. Molecular testing, urinary bile acid analysis (IEBAS), liver biopsy and immuno-staining are used for the diagnosis. Some patients with PFIC can be successfully treated with ursodeoxycholic acid or partial external biliary diversion. IEBAS is treated with cholic acid. Liver transplantation is required for cirrhosis with liver failure. Hepatocarcinoma has been reported in PFIC2.
authors.affiliation: Department of Gastroenterology, Hepatology and Eating Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich, 20, 04730 Warsaw, Poland.
authors.forename: Irena
authors.initials: I
authors.lastname: Jankowska
authors.forename: Piotr
authors.initials: P
authors.lastname: Socha
mesh_terms: D001361:Avitaminosis / Q000209:etiology; D001647:Bile Acids and Salts / Q000096:biosynthesis*; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D002648:Child; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D019826:Cholic Acid / Q000627:therapeutic use; D013505:Digestive System Surgical Procedures; D005765:Gastrointestinal Agents / Q000627:therapeutic use; D006130:Growth Disorders / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007565:Jaundice / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D011537:Pruritus / Q000209:etiology; D013163:Splenomegaly / Q000209:etiology; D000637:Transaminases / Q000097:blood; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: D001647:Bile Acids and Salts; D005765:Gastrointestinal Agents; D002635:Chenodeoxycholic Acid; D005723:gamma-Glutamyltransferase; D000637:Transaminases; D019826:Cholic Acid