Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FE - Ostatní obory vnitřního lékařství

OECD FORD obor

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Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

World Journal of Gastroenterology

ISSN

1007-9327

e-ISSN

—

Svazek periodika

19

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

CN - Čínská lidová republika

Počet stran výsledku

5

Strana od-do

946-950

Kód UT WoS článku

000314578100021

EID výsledku v databázi Scopus

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