Sticova E, Elleder M, Hulkova H, Luksan O, Sauer M, Wunschova-Moudra I, Novotny J, Jirsa M. Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. World J Gastroenterol 2013; 19(6): 946-950 [PMID: 23429660 DOI: 10.3748/wjg.v19.i6.946]
Corresponding Author of This Article
Eva Sticova, MD, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Videnska 1958/9, 14021 Prague 4, Czech Republic. eva.sticova@ikem.cz
Article-Type of This Article
Case Report
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World J Gastroenterol. Feb 14, 2013; 19(6): 946-950 Published online Feb 14, 2013. doi: 10.3748/wjg.v19.i6.946
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis
Eva Sticova, Milan Elleder, Helena Hulkova, Ondrej Luksan, Martin Sauer, Irena Wunschova-Moudra, Jan Novotny, Milan Jirsa
Eva Sticova, Ondrej Luksan, Milan Jirsa, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague 4, Czech Republic
Eva Sticova, Third Faculty of Medicine, Charles University, 10000 Prague 10, Czech Republic
Milan Elleder, Helena Hulkova, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and VFN, 12808 Prague 2, Czech Republic
Martin Sauer, Department of Surgery IPVZ, Masaryk Hospital, 40113 Usti nad Labem, Czech Republic
Irena Wunschova-Moudra, Department of Thoracic Surgery, Masaryk Hospital, 40113 Usti nad Labem, Czech Republic
Jan Novotny, Gastroenterology Department, Masaryk Hospital, 40113 Usti nad Labem, Czech Republic
Author contributions: Sticova E and Jirsa M analyzed the mutations, the pathological data and were involved in writing and editing the manuscript; Elleder M and Hulkova H performed histochemical, immunohistological and ultrastructural analysis; Luksan O participated in mutation analysis; Sauer M, Wunschova-Moudra I and Novotny J were involved in collecting the clinical and laboratory data.
Supported by The Project (Ministry of Health, Czech Republic) for Development of Research Organization 00023001 (IKEM, Prague, Czech Republic) - Institutional support; and the grant SVV-2012-264502
Correspondence to: Eva Sticova, MD, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Videnska 1958/9, 14021 Prague 4, Czech Republic. eva.sticova@ikem.cz
Telephone: +420-236-055229 Fax: +420-241-721666
Received: July 12, 2012 Revised: October 10, 2012 Accepted: October 22, 2012 Published online: February 14, 2013
Abstract
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 conjugated hyperbilirubinemia 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.
