PL EN


Preferences help
enabled [disable] Abstract
Number of results
2011 | 58 | 2 | 251-254
Article title

Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis

Content
Title variants
Languages of publication
EN
Abstracts
EN
Among possible causes of chronic hepatitis in adolescents most common are infections, autoimmune disorders and metabolic diseases. Thus, diagnostic procedures should be multidirectional. This study reports diagnosis and treatment difficulties in an 18-year-old male patient with hereditary hemochromatosis (HH), ulcerative colitis (UC), chronic hepatitis B (CHB) and Gilbert syndrome. The presented case illustrates problems in diagnostics related to the presence of numerous disease conditions in one patient. It should be taken into consideration that these diseases coexisting in one patient can mutually affect their symptoms creating specific diagnostic difficulties.
Publisher

Year
Volume
58
Issue
2
Pages
251-254
Physical description
Dates
published
2011
received
2011-03-03
revised
2011-05-26
accepted
2011-06-01
(unknown)
2011-06-02
Contributors
  • Departament of Infectious Diseases, Medical University of Gdansk, Gdańsk, Poland
author
  • Department of Pediatrics, Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Molecular Diagnostics Division, Department of Biotechnology, Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Department of Pediatrics, Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland
  • Molecular Diagnostics Division, Department of Biotechnology, Intercollegiate Faculty of Biotechnology of the University of Gdansk and Medical University of Gdansk, Gdańsk, Poland
References
  • Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 358: 221-230.
  • Arnold J, Sangwaiya A, Bhatkal B, Geoghegan F, Busbridge M (2009) Hepcidin and inflammatory bowel disease: dual role in the host defense and iron homoeostasis. Eur J Gastroenterol Hepatol 21: 425-429.
  • Beutler E (2003) The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 101: 3347-3350.
  • Beutler E, Felitti V, Gelbart T, Waalen J (2003) Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry. Br J Haematol 120: 887-893.
  • Biason M, Masier S, Toffoli G (2008) UGT1A1*28 and other UGT1A1 polymorphisms as determinants of irinotecan toxicity. J Chemother 20: 158-165.
  • Bomford A (2002) Genetics of haemochromatosis. Lancet 360: 1673-1681.
  • Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, Chowdhury NR (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333: 1171-1175.
  • Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, Subramanian VN, Powell LW, Anderson GJ, Ramm GA (2003) Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron hemostasis. Lancet 361: 669-673.
  • Deugnier Y, Brissot P, Loréal O (2008) Iron and the liver: update 2008. J Hepatol 48 (Suppl 1): S113-S123.
  • EASL (2009) Clinical Practice Guidelines: Management of chronic hepatitis B. J Hepatol 50: 227-234.
  • Gisbert JP, Gomollon F (2008) Common misconceptions in the diagnosis and management of anemia in inflammatory bowel disease. Am J Gastroenterol 103: 1299-1307.
  • Gisbert JP, Gomollon F, Cura C, Luna M, Gonzalez-Lama Y, Pajares HM, Mate J, Guijarro LG (2001) Thiopurine methyltransferase activity in Spain: a study of 14,545 patients. Dig Dis Sci 52: 1262-1269.
  • Hampe J, Schreiber S, Shaw SH, Lau KF, Bridger S, Macpherson AJ, Cardon LR, Sakul H, Harris TJ, Buckler A, Hall J, Stokkers P, van Deventer SJ, Nürnberg P, Mirza MM, Lee JC, Lennard-Jones JE, Mathew CG, Curran ME (1999) A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 64: 808-816.
  • Knight C, Murray KF (2009) Hepatobiliary associations with inflammatory bowel disease. Expert Rev Gastroenterol Hepatol 3: 681-691.
  • Kulaksiz H, Gehrke SG, Janetzko A, Rost D, Bruckner T, Kallinowski B, Stremmel W (2004) Pro-hepcidin: expression and cell specific localization in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia. Gut 53: 735-743.
  • Lankisch TO, Moebius U, Wehmeier M, Behrens G, Manns MP, Schmidt RE, Strassburg CP (2006) Gilbert's disease and atazanavir: from phenotype to UDP-glucuronyltransferase haplotype. Hepatology 44: 1324-1332.
  • Martinelli AL, Filho AB, Franco RF, Tavella MH, Ramalho LN, Zucoloto S, Rodrigues SS, Zago MA (2004) Liver iron deposits in hepatitis B patients: association with severity of liver disease but not with hemochromatosis gene mutations. J Gastroenterol Hepatol 19: 1036-1041.
  • Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y (2004) Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 115: 525-526.
  • McCarty MF (2007) 'Iatrogenic Gilbert syndrome' - A strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin Med Hypotheses 69: 974-994.
  • Nemeth E, Valore EV, Territo M, Schiller G, Lichtenstein S, Ganz T (2003) Hepcidin, a putative mediator of anemia of inflammation, is a type II acute phase-protein. Blood 101: 2461-2463.
  • Nicolas G, Chauvet C, Viatte L, Danan JL, Bigard X, Devaux I, Beaumont C, Kahn A, Vaulont S (2002) The gene encoding the iron regulatory peptide hepcidin is regulated by anemia hypoxia, and inflammation. J Clin Invest 110: 1037-1044.
  • Nicolas G, Bennoun M, Devaux C, Grandchamp B, Kahn A, Vaulont S (2003) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 98: 8780-8785.
  • Ollinger R, Wang H, Yamashita K, Wegiel B, Thomas M, Margreiter R, Bach FH (2007) Therapeutic applications of bilirubin and biliverdin in transplantation. Antioxid Redox Signal 9: 2175-2185.
  • Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loréal O (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 276: 7811-7819.
  • Ponsioen CY, Stokkers PC, vd Horst AR, Tytgat GN, van Deventer SJ (2001) A patient with hereditary hemochromatosis, ulcerative colitis, and primary sclerosing cholangitis: genetic aspects. Eur J Intern Med 12: 518-521.
  • Ramasundara M, Leach ST, Lemberg DA, Day AS (2009) Defensins and inflammation: the role of defensins in inflammatory bowel disease. J Gastroenterol Hepatol 24: 202-208.
  • Romanowski T, Sikorska K, Bielawski KP (2009) UGT1A1 gene polymorphism as a potential factor inducing iron overload in the pathogenesis of type 1 hereditary hemochromatosis. Hepatol Res 39: 469-478.
  • Sikorska K, Stalke P, Jaskiewicz K, Romanowski T, Bielawski KP (2008) Could iron deposits in hepatocytes serve as a prognostic marker of HFE gene mutations? Hepatogastroenterology 55: 1024-1028.
  • Stokkers PC, Reitsma PH, Tytgat GN, van Deventer SJ (1999) HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut 45: 395-401.
  • Verga Falzacappa MV, Muckenthaler MU (2005) Hepcidin: iron-hormone and anti-microbial peptide. Gene 364: 37-44.
  • Walters TD, Silverberg MS (2006) Genetics of inflammatory bowel disease: current status and future directions. Can J Gastroenterol 20: 633-639.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv58p251kz
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.