Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characteriz...Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characterized by biphasic,predominantly conjugatedhyperbilirubinemia with no progression to end-stage liver disease.The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24.Clinical onset of the syndrome is most often seen in the late teens or early adulthood.In this report,we describe a case of previously unrecognized Dubin-Johnson syndrome caused by two novel pathogenic mutations (c.2360_2366delCCCTGTC and c.3258+1G>A),coinciding with cholestatic liver disease in an 82-year-old male patient.The patient,suffering from advanced atherosclerosis with serious involvement of coronary arteries,developed colorectal cancer with nodal metastases.The subsequent findings do not support the protective role of Dubin-Johnson type hyperbilirubinemia.展开更多
基金Supported by The Project(Ministry of Health,Czech Republic)for Development of Research Organization00023001(IKEM,Prague,Czech Republic)-Institutional supportthe grant SVV-2012-264502
文摘Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress.Dubin-Johnson syndrome is a rare,autosomal recessive,inherited disorder characterized by biphasic,predominantly conjugatedhyperbilirubinemia with no progression to end-stage liver disease.The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24.Clinical onset of the syndrome is most often seen in the late teens or early adulthood.In this report,we describe a case of previously unrecognized Dubin-Johnson syndrome caused by two novel pathogenic mutations (c.2360_2366delCCCTGTC and c.3258+1G>A),coinciding with cholestatic liver disease in an 82-year-old male patient.The patient,suffering from advanced atherosclerosis with serious involvement of coronary arteries,developed colorectal cancer with nodal metastases.The subsequent findings do not support the protective role of Dubin-Johnson type hyperbilirubinemia.
