Liver disease associated with canalicular transport defects: Current and future therapies

摘要: Bile formation at the canalicular membrane is a delicate process. This illustrated by inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all encoding hepatocanalicular transporters. Effective treatment of these transport defects clinical scientific challenge that still ongoing. Current evidence indicates ursodeoxycholic acid (UDCA) can be effective selected patients with PFIC3 (ABCB4 deficiency), while rifampicin reduces pruritus PFIC1 (ATP8B1 deficiency) PFIC2 (ABCB11 might abort cholestatic episodes BRIC (mild ATP8B1 or ABCB11 deficiency). Cholestyramine essential sitosterolemia (ABCG5/8 Most will benefit from partial biliary drainage. Nevertheless transplantation needed substantial proportion patients, as it patients. New developments using nuclear receptors target, enhancing expression mutated transporter protein employing chaperones, mutation specific therapy show promise. review focus on currently available well those are likely influence practice near future.