Surcharges héréditaires en fer

Pathologie Biologie - Tập 58 - Trang 316-323 - 2010
P. Brissot1, E. Bardou-Jacquet1, M. Latournerie1, M. Ropert-Bouchet2, M.L. Island2, O. Loréal3, A.-M. Jouanolle4
1Inserm U-522, service des maladies du foie, centre de dépistage des surcharges en fer rares d’origine génétique, CHU Pontchaillou, 2, rue Henri-Le-Guilloux, 35033 Rennes cedex 13, France
2Inserm U-522, laboratoire de biochimie spécialisée, centre de dépistage des surcharges en fer rares d’origine génétique, CHU Pontchaillou, 2, rue Henri-Le-Guilloux, 35033 Rennes cedex 13, France
3Inserm U-522, centre de dépistage des surcharges en fer rares d’origine génétique, CHU Pontchaillou, 2, rue Henri-Le-Guilloux, 35033 Rennes cedex 13, France
4Laboratoire de génétique moléculaire, centre de dépistage des surcharges en fer rares d’origine génétique, CHU Pontchaillou, 2, rue Henri-Le-Guilloux, 35033 Rennes cedex 13, France

Tài liệu tham khảo

Brissot, 2008, Current approach to hemochromatosis, Blood Rev, 22, 195, 10.1016/j.blre.2008.03.001 Pietrangelo, 2009, Inherited metabolic disease of the liver, Curr Opin Gastroenterol, 25, 209, 10.1097/MOG.0b013e328329e13d Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399 Beutler, 2002, Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA, Lancet, 359, 211, 10.1016/S0140-6736(02)07447-0 Allen, 2008, Iron-overload-related disease in HFE hereditary hemochromatosis, N Engl J Med, 358, 221, 10.1056/NEJMoa073286 Gurrin, 2009, HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity, Hepatology, 50, 94, 10.1002/hep.22972 Jacolot, 2004, HAMP as a modifier gene that increase the phenotypic expression of the HFE C282Y homozygous genotype, Blood, 103, 2340, 10.1182/blood-2003-10-3366 Merryweather-Clarke, 2003, Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis, Hum Mol Genet, 12, 2241, 10.1093/hmg/ddg225 Island, 2009, A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis, Haematologica, 94, 720, 10.3324/haematol.2008.001784 Le Gac, 2004, The recently identifiedtype 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype, Hum Mol Genet, 13, 1913, 10.1093/hmg/ddh206 Millet, 2007, Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway module HFE hemochromatosis penetrance, Am J Human Genet, 81, 799, 10.1086/520001 Constantine, 2009, A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis, Br J Haematol, 147, 140, 10.1111/j.1365-2141.2009.07843.x Papanikolaou, 2004, Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis, Nat Genet, 36, 77, 10.1038/ng1274 Roetto, 2003, Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis, Nat Genet, 33, 21, 10.1038/ng1053 Camaschella, 2000, The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22, Nat Genet, 25, 14, 10.1038/75534 Montosi, 2001, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J Clin Invest, 108, 619, 10.1172/JCI200113468 Njajou, 2001, A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nat Genet, 28, 213, 10.1038/90038 Drakesmith, 2005, Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin, Blood, 106, 1092, 10.1182/blood-2005-02-0561 Miyajima, 2003, Aceruloplasminemia, an inherited disorder of iron metabolism, Biometals, 16, 205, 10.1023/A:1020775101654 Kono, 2006, Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia, Gastroenterology, 131, 240, 10.1053/j.gastro.2006.04.017 Knisely, 2004, Molecular characterization of a third case of human atransferrinemia, Blood, 104, 2607, 10.1182/blood-2004-05-1751 Mims, 2005, Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload, Blood, 105, 1337, 10.1182/blood-2004-07-2966 Beaumont, 2006, Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload, Blood, 107, 4168, 10.1182/blood-2005-10-4269 Iolascon, 2006, Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2), Blood, 107, 349, 10.1182/blood-2005-06-2477 Camaschella, 2007, The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload, Blood, 110, 1353, 10.1182/blood-2007-02-072520 Andrews, 2008, Forging a field: the golden age of iron biology, Blood, 112, 219, 10.1182/blood-2007-12-077388 Pigeon, 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, 10.1074/jbc.M008923200 Viatte, 2009, Hepcidin, the iron watcher, Biochimie, 91, 1223, 10.1016/j.biochi.2009.06.012 Loreal, 2005, Hepcidin in iron metabolism, Curr Protein Pept Sci, 6, 279, 10.2174/1389203054065392 Babitt, 2006, Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression, Nat Genet, 38, 531, 10.1038/ng1777 Wang, 2005, A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression, Cell Metab, 2, 399, 10.1016/j.cmet.2005.10.010 Ramey, 2009, Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes, Haematologica, 94, 765, 10.3324/haematol.2008.003541 Kautz, 2009, BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression, Blood, 10.1182/blood-2009-02-206771 Corradini, 2009, Bone morphogenetic protein signaling is impaired in a Hfe knockout mouse model of hemochromatosis, Gastroenterology, 10.1053/j.gastro.2009.06.057 Goswami, 2006, Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing, J Biol Chem, 281, 28494, 10.1074/jbc.C600197200 Gao, 2009, Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression, Cell Metab, 9, 217, 10.1016/j.cmet.2009.01.010 Schmidt, 2008, The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression, Cell Metab, 7, 205, 10.1016/j.cmet.2007.11.016 De Domenico, 2007, Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin, Embo J, 26, 2823, 10.1038/sj.emboj.7601735 Fernandes, 2009, The molecular basis of hepcidin-resistant hereditary hemochromatosis, Blood, 114, 437, 10.1182/blood-2008-03-146134 Hershko, 1978, Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity, Br J Haematol, 40, 255, 10.1111/j.1365-2141.1978.tb03662.x Hider, 2002, Nature of nontransferrin-bound iron, Eur J Clin Invest, 32, 50, 10.1046/j.1365-2362.2002.0320s1050.x Brissot, 1985, Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states, Clin Invest, 76, 1463, 10.1172/JCI112125 Craven, 1987, Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis, Proc Natl Acad Sci U S A, 84, 3457, 10.1073/pnas.84.10.3457 Esposito, 2003, Labile plasma iron in iron overload: redox activity and susceptibility to chelation, Blood, 102, 2670, 10.1182/blood-2003-03-0807 Le Lan, 2005, Redox active plasma iron in C282Y/C282Y hemochromatosis, Blood, 105, 4527, 10.1182/blood-2004-09-3468 Cabantchik, 2005, LPI-labile plasma iron in iron overload, Best Pract Res Clin Haematol, 18, 277, 10.1016/j.beha.2004.10.003 Duval, 2009, Hip involvement in hereditary hemochromatosis: a clinical-pathologic study, Joint Bone Spine, 76, 412, 10.1016/j.jbspin.2008.11.012 Gandon, 2004, Noninvasive assessment of hepatic iron stores by MRI, Lancet, 33, 338 St Pierre, 2005, Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance, Blood, 105, 855, 10.1182/blood-2004-01-0177 Moirand, 1997, A new syndrome of liver iron overload with normal transferrin saturation, Lancet, 349, 95, 10.1016/S0140-6736(96)06034-5 Mendler, 1999, Insulin resistance-associated hepatic iron overload, Gastroenterology, 117, 1155, 10.1016/S0016-5085(99)70401-4 Ruivard, 2009, Iron absorption in dysmetabolic iron overload syndrome is decreased and correlates with increased plasma hepcidin, J Hepatol, 50, 1219, 10.1016/j.jhep.2009.01.029 Cazzola, 2008, Clinical relevance of anemia and transfusion iron overload in myelodysplastic syndromes, Am Soc Hematol Educ Prog, 166, 10.1182/asheducation-2008.1.166 Tanno, 2007, High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin, Nat Med, 13, 1096, 10.1038/nm1629 Brissot P, Troadec MB, Loreal O. The clinical relevance of new insights in iron transport and metabolism. Curr Hematol Rep. 2004;3:107–15. HAS. French recommendations for management of HFE hemochromatosis. Haute Autorité de santé 2005 ; www.has-sante.fr. Cappellini, 2006, A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia, Blood, 107, 3455, 10.1182/blood-2005-08-3430 Trousseau, 1865 Ganz, 2008, Immunoassay for human serum hepcidin, Blood, 112, 4292, 10.1182/blood-2008-02-139915 Swinkels, 2008, Hepcidin in the management of patients with mild non-hemochromatotic iron overload: Fact or fiction?, J Hepatol, 49, 680, 10.1016/j.jhep.2008.08.004 Meynard, 2009, Lack of the bone morphogenetic protein BMP6 induces massive iron overload, Nat Genet, 41, 478, 10.1038/ng.320 Andriopoulos, 2009, BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism, Nat Genet, 41, 482, 10.1038/ng.335