About: Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

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About: Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574894/pdf/WJG-19-946.pdf
Description	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. 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. (en)
Title	Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis (en)
skos:prefLabel	Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis (en)
skos:notation	RIV/00023001:_____/13:00058656!RIV14-MZ0-00023001
http://linked.open...avai/predkladatel	Institut klinické a experimentální mediciny
http://linked.open...avai/riv/aktivita	I S
http://linked.open...avai/riv/aktivity	I, S
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Jirsa, Milan Sticová, Eva
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Institut klinické a experimentální medicíny
http://linked.open...dnocenehoVysledku	70680
http://linked.open...ai/riv/idVysledku	RIV/00023001:_____/13:00058656
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Cancer; Atherosclerosis; Oxidative stress; Hyperbilirubinemia; ABCC2; Dubin-Johnson syndrome (en)
http://linked.open.../riv/klicoveSlovo	Cancer Dubin-Johnson syndrome Atherosclerosis Oxidative stress ABCC2 Hyperbilirubinemia
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[46B75EB0700F]
http://linked.open...i/riv/nazevZdroje	World journal of gastroenterology
http://linked.open...in/vavai/riv/obor	FE
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	19
http://linked.open...iv/tvurceVysledku	Elleder, Milan Novotný, Jan Sticová, Eva Jirsa, Milan Hulkova, Helena Luksan, Ondrej Sauer, Martin Wunschova-Moudra, Irena
http://linked.open...ain/vavai/riv/wos	000314578100021
issn	1007-9327
number of pages	5 (xsd:int)
http://bibframe.org/vocab/doi	10.3748/wjg.v19.i6.946

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