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Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F13%3A43907185" target="_blank" >RIV/00216208:11120/13:43907185 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/13:10193303 RIV/00023001:_____/13:00058656 RIV/00064165:_____/13:10193303

  • Result on the web

    <a href="http://dx.doi.org/10.3748/wjg.v19.i6.946" target="_blank" >http://dx.doi.org/10.3748/wjg.v19.i6.946</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3748/wjg.v19.i6.946" target="_blank" >10.3748/wjg.v19.i6.946</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

  • Original language 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, deve

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FE - Other fields of internal medicine

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    S - Specificky vyzkum na vysokych skolach

Others

  • Publication year

    2013

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    World Journal of Gastroenterology

  • ISSN

    1007-9327

  • e-ISSN

  • Volume of the periodical

    19

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    CN - CHINA

  • Number of pages

    5

  • Pages from-to

    946-950

  • UT code for WoS article

    000314578100021

  • EID of the result in the Scopus database