Biliary Lipid Composition in Benign Recurrent intrahepatic Cholestasis

摘要

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disorder, characterized by episodes of cholestasis without anatomical obstruction. These cholestatic attacks can last for several weeks to months, but no liver damage will develop1"3. During an attack serum bile salt concentrations are elevated, but serum 7-GT remains in the normal range. Mutations in a single gene, ATP8B1 (formerly FIC1) were found to be responsible for this disease in most families described to date4. Progressive familial intrahepatic cholestasis type 1 (PFIC1), another autosomal recessive liver disease with a low serum -y-GT, is also caused by mutations in the ATP8B1 gene. It is characterized by unremitting cholestasis that starts almost invariably before the age of 1 year, and progresses to cirrhosis and liver failure5-6. As bom BRIC and PHC1 are caused by mutations in the same gene, with a mild or a severe course respectively, we now consider them as two ends in the spectrum of the same disorder, FIC1 disease7.