FIC1 disease: A spectrum of intrahepatic cholestatic disorders

FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1). Classically, FIC1 disease compr ises two different disorders: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC). Howev er, we now view these two disorders as two ends of a continuum. Current the rapeutic strategies for FIC1 disease, both medical and surgical, may reliev e symptoms, but are presently insufficiently evaluated. ATP8B1 encodes a pr otein belonging to a recently defined subfamily of P-type ATPases. The bioc hemical and cellular functions of its product, FIC1, and the mechanisms by which its absence or dysfunction leads to cholestasis are currently elusive . Further studies to elucidate FIC1's function will be essential to unravel the pathogenesis of FIC1 disease. Such studies will also have a general im pact on our understanding of the molecular mechanisms of bile formation and may therefore improve clinical management of both hereditary and acquired forms of cholestasis.