Abstract
A new clinicopathologic entity, “chronic idiopathic jaundice with unidentified pigment in liver cells, ”was proposed in 1954 by Dubin and Johnson and at present is called Dubin-Johnson syndrome (DJS) . Pathogenesis of DJS was thought to be an impairment of conjugated birilubin-secretion into the bile canaliculi. In 1997, mutations of the responsible gene for DJS were reported by Paulusuma et al. revealing that this gene, named multidrug resistance protein 2 (MRP2) and at present also called ATP-binding cassette, sub-family C, member 2 (ABCC2), encodes a transmembrane protein which belongs to a ABC transporter family. In comparison with the clinicopathologic analysis, the gene analysis of DJS is still not sufficient. Only ten kinds of mutations of the MRP2/ABCC2 gene in DJS have been reported.In this review, mutations of the MRP2 gene in DJS, as well as in vitro pathogenesis of abnormal MRP2 protein, will be described.
