Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion

摘要: Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation pruritus. Laboratory tests demonstrate elevated bilirubin bile acids, without an increase serum gamma-glutamyl-transpeptidase or cholesterol. This study was performed evaluate our experience with medical therapy as well two types surgical treatment used PFIC, particularly partial external diversion (PEBD) alternative method transplantation (OLTx). Between 1979 1998 we have treated 46 PFIC (27 boys 19 girls), aged 10 months yr (at time this study). Medical ursodeoxycholic (UDCA) 39 patients for period between 6 82 months. PEBD (cholecysto-jejuno-cutaneostomy) 16 patients, OLTx eight (including one after unsuccessful PEBD). Retrospective analysis clinical course selected laboratory (bilirubin, ASPAT, ALAT, acids), histopathological examinations were performed. Results assessed by means influence type on symptoms, tests, progress hepatic physical development survival. effective long term four (10%) resulting biochemical normalization. Both methods OLTx, resulted 80% success rate therefore should be complementary therapies. In before established cirrhosis, choice treatment. Patients presenting ineffective qualify OLTx. With strategy most PIFC can cured.