World journal of gastroenterology · 2013
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Sticova Eva, Elleder Milan, Hulkova Helena, Luksan Ondrej, Sauer Martin, Wunschova-Moudra Irena, Novotny Jan, Jirsa Milan
Аннотация
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.
Предметные рубрики MeSH
AdenocarcinomaAged, 80 and overBiopsyColonic NeoplasmsCoronary Artery DiseaseDNA Mutational AnalysisFatal OutcomeGenetic Predisposition to DiseaseHumansImmunohistochemistryJaundice, Chronic IdiopathicLymphatic MetastasisMaleMultidrug Resistance-Associated Protein 2ATP-Binding Cassette, Sub-Family C ProteinsMutationPrognosis