Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
23429660
PubMed Central
PMC3574894
DOI
10.3748/wjg.v19.i6.946
Knihovny.cz E-zdroje
- Klíčová slova
- ABCC2, Atherosclerosis, Cancer, Dubin-Johnson syndrome, Hyperbilirubinemia, Oxidative stress,
- MeSH
- adenokarcinom komplikace sekundární MeSH
- biopsie MeSH
- fatální výsledek MeSH
- genetická predispozice k nemoci MeSH
- imunohistochemie MeSH
- lidé MeSH
- lymfatické metastázy MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- nádory tračníku komplikace patologie MeSH
- nemoci koronárních tepen komplikace diagnóza MeSH
- prognóza MeSH
- protein spojený s mnohočetnou rezistencí k lékům 2 MeSH
- proteiny spojené s mnohočetnou rezistencí k lékům genetika MeSH
- senioři nad 80 let MeSH
- žloutenka chronická idiopatická komplikace diagnóza genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- ABCC2 protein, human MeSH Prohlížeč
- protein spojený s mnohočetnou rezistencí k lékům 2 MeSH
- proteiny spojené s mnohočetnou rezistencí k lékům MeSH
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.
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Stocker R, Yamamoto Y, McDonagh AF, Glazer AN, Ames BN. Bilirubin is an antioxidant of possible physiological importance. Science. 1987;235:1043–1046. PubMed
Siow RC, Sato H, Mann GE. Heme oxygenase-carbon monoxide signalling pathway in atherosclerosis: anti-atherogenic actions of bilirubin and carbon monoxide? Cardiovasc Res. 1999;41:385–394. PubMed
Mayer M. Association of serum bilirubin concentration with risk of coronary artery disease. Clin Chem. 2000;46:1723–1727. PubMed
Vítek L, Schwertner HA. Protective effects of serum bilirubin on peripheral vascular disease. Ann Hepatol. 2008;7:94–95. PubMed
Lin JP, Vitek L, Schwertner HA. Serum bilirubin and genes controlling bilirubin concentrations as biomarkers for cardiovascular disease. Clin Chem. 2010;56:1535–1543. PubMed
Ollinger R, Kogler P, Troppmair J, Hermann M, Wurm M, Drasche A, Königsrainer I, Amberger A, Weiss H, Ofner D, et al. Bilirubin inhibits tumor cell growth via activation of ERK. Cell Cycle. 2007;6:3078–3085. PubMed
Lacko M, Roelofs HM, Te Morsche RH, Voogd AC, Ophuis MB, Peters WH, Manni JJ. Genetic polymorphism in the conjugating enzyme UGT1A1 and the risk of head and neck cancer. Int J Cancer. 2010;127:2815–2821. PubMed
Horsfall LJ, Rait G, Walters K, Swallow DM, Pereira SP, Nazareth I, Petersen I. Serum bilirubin and risk of respiratory disease and death. JAMA. 2011;305:691–697. PubMed
Keshavan P, Schwemberger SJ, Smith DL, Babcock GF, Zucker SD. Unconjugated bilirubin induces apoptosis in colon cancer cells by triggering mitochondrial depolarization. Int J Cancer. 2004;112:433–445. PubMed
Temme EH, Zhang J, Schouten EG, Kesteloot H. Serum bilirubin and 10-year mortality risk in a Belgian population. Cancer Causes Control. 2001;12:887–894. PubMed
Zucker SD, Horn PS, Sherman KE. Serum bilirubin levels in the U.S. population: gender effect and inverse correlation with colorectal cancer. Hepatology. 2004;40:827–835. PubMed
Jirásková A, Novotný J, Novotný L, Vodicka P, Pardini B, Naccarati A, Schwertner HA, Hubácek JA, Puncochárová L, Šmerhovský Z, et al. Association of serum bilirubin and promoter variations in HMOX1 and UGT1A1 genes with sporadic colorectal cancer. Int J Cancer. 2012;131:1549–1555. PubMed
Ioannou GN, Liou IW, Weiss NS. Serum bilirubin and colorectal cancer risk: a population-based cohort study. Aliment Pharmacol Ther. 2006;23:1637–1642. PubMed
Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore) 1954;33:155–197. PubMed
Shani M, Seligsohn U, Gilon E, Sheba C, Adam A. Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. Q J Med. 1970;39:549–567. PubMed
Paulusma CC, Kool M, Bosma PJ, Scheffer GL, ter Borg F, Scheper RJ, Tytgat GN, Borst P, Baas F, Oude Elferink RP. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology. 1997;25:1539–1542. PubMed
Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, Adachi Y, Sakisaka S, Kuwano M. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am J Hum Genet. 1999;64:739–746. PubMed PMC
Machida I, Wakusawa S, Sanae F, Hayashi H, Kusakabe A, Ninomiya H, Yano M, Yoshioka K. Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. J Gastroenterol. 2005;40:366–370. PubMed
Haimi-Cohen Y, Merlob P, Marcus-Eidlits T, Amir J. Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. Clin Pediatr (Phila) 1998;37:511–513. PubMed
Sprinz H, Nelson RS. Persistent non-hemolytic hyperbilirubinemia associated with lipochrome-like pigment in liver cells: report of four cases. Ann Intern Med. 1954;41:952–962. PubMed
Varma RR, Grainger JM, Scheuer PJ. A case of the Dubin-Johnson syndrome complicated by acute hepatitis. Gut. 1970;11:817–821. PubMed PMC
Watanabe S, Nishioka M, Kodama T, Ando K, Numa Y, Fukumoto Y, Okita K, Takemoto T, Mizuta M. Clinicopathological studies of the Dubin-Johnson syndrome complicated with chronic hepatitis. Gastroenterol Jpn. 1982;17:576–584. PubMed
Hunter FM, Sparks RD, Flinner RL. Hepatitis with resulting mobilization of hepatic pigment in a patient with Dubin-Johnson syndrome. Gastroenterology. 1964;47:631–635. PubMed
Cebecauerova D, Jirasek T, Budisova L, Mandys V, Volf V, Novotna Z, Subhanova I, Hrebicek M, Elleder M, Jirsa M. Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert’s and Dubin-Johnson syndrome. Gastroenterology. 2005;129:315–320. PubMed