EULAR Textbook on Rheumatic Diseases. References chapter 40

Transcription

1 References chapter 40 References hereditary chromatosis 1. Pietrangelo A. Hereditary hemochromatosis. Gastroenterology 2010;139: Feder JN, Gnike A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13: Adams PC, Reboussin DM, Barton JC et al. Hemochromatosis and iron-overload in a racially diverse population. N Engl J Med 2005;352: Gleeson F, Ryan E, Barrett S, Crowe J. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol 2004; 16: Adams PC, Barton JC. Haemochromatosis. Lancet 2007;370: Whitlock E, Garlitz B, Harris E et al. screening for hereditary hemochromatosis: a review for the US Preventive Services Task Force. Ann Int Med 2006;145: van Bhoven MA, van Deursen CTBM, Swinkels DW. Diagnosis and management of hereditary haemochromatosis. BMJ 2011;342:c Nielsen P, Carpinteiro S, Fisher R et al Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in controls subjects from Northern Germany. Br J Haematol 1998;103: Gurrin LC, Bertalli NA, Dalton GW et al. HFE C282Y/H63D composite heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology 2009;50: Yen AW, Fancher TL, Bowlus CL. Revisiting hereditary hemochromatosis: current concepts and progress. Am J Med 2006;119: Wallace DF, Subramiam VN. Non-HFE hemochromatosis. World J Gastroenterol 2007;13: Andrews NC. Disorders of iron metabolism. N Engl J Med 1999;341: Nemeth E, Ganz T. The role of hepcidin in iron metabolism. Acta Haematol 2009;122: Meynard D, Kautz L, Darnaud V et al. Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nat Genet 2009;41:

2 15. Andriopoulos B, Corradini E, Xia Y et al. BMP6 is a key endogenous regulator of hepcidin expression and iron homeostasis. Nat Genet 2009;41: Fleming RE, Ahmann JR, Migas MC et al. targeted mutagenesis of the murine transferring receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci USA 2002;99: Gao J, Chen J, Kramer M, et al. Interaction of the hereditary hemochromatosis protein HFE with transferring receptor 2 is required for transferring induced hepcidin expression. Cell Metab 2009;9: Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997; 25: McDonnel S, Preston B, Jewell S et al. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 1999;106: Niederau C, Strohmeyer G, Stremmel W. Epidemiology, clinical spectrum and prognosis of hemochromatosis. Adv Exp Med Biol 1994; 356: Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: A changing scene. Am J Med 1991; 90: Bacon BR, Sadiq SA. Hereditary hemochromatosis: Presentation and diagnosis in the 1990s. Am J Gastroenterol 1997; 92: De Seze S, Solnica J, Mitrovic D, et al. Joint and bone disorders and hypoparathyroidism in hemochromatosis. Semin Arthritis Rheum 1972; 2: Schumacher HR. Haemochromatosis. Ballières Best Pract Res Clin Rheumatol 2000;14: Pawlotsky Y, Le Dantec P, Moirand R et al. Elevated parathyroid hormone and osteoarticular changes in patients with genetic hemochromatosis. Arthritis Rheum 1999;42: Ines LS, da Silva JA, Malcata AB, Porto A. Arthropathy of genetic hemochromatosis: a major and distinctive manifestation of the disease. Clin Exp Rheumatol 2001;19:

3 27. Von Kempis J. Arthropathy in hereditary hemochromatosis. Curr Opin Rheumatol 2001;13: Sahinbegovic E, Dallos T, Aigner E et al. Musculoskeletal burden of hereditary hemochromatosis. Arthritis Rheum 2010; 62: Valenti L, Fracanzani AL, AL, Rossi V et al. The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol 2008;35: Zhang W, Doherty M, Bardin et al. EULAR recommendations for calcium pyrophosphate deposition. Part1 terminology and diagnosis. Annals Rheum Dis 2011;70: Carroll GJ. Primary osteoarthritis of the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation of the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype. J Clin Rheumatol 2006;12: Carlsson A. Hereditary hemochromatosis: a neglected diagnosis in orthopedics. Acta orthop 2009;80: Jacki HJ, Mehring U-M, Gotz G et al. Predominant tankle arthropathy in hereditary hemochromatosis. Rheumatology Oxford 1999;38: Schmid H, Struppler C, Braun GS et al. Ankle and hind foot arthropathy in hereditary hemochromatosis. J Rheumatol 2003;30: Axford JS, Bomford A, Revell P et al. Hip arthropathy in genetic hemochromatosis. Radiographic and histological features. Arthritis Rheum 1991; 34: Richette P, Ottaviani S, Vicault et al. Musculoskeletal complication of hemochromatosis: a case control study. J Rheumatol 2010;37: Rollot F, Wechsler B, du Boutin TH et al. Hemochromatosis and femoral head aseptic osteonecrosis: a non fortuitous association? J Rheumatol 2005;32: Adams PC, Speechley M. The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol 1996; 23: Schumacher HR. Ultrastructural characteristics of the synovial membrane in idiopathic haemochromatosis? Ann Rheum Dis 1972;31:

4 40. Carrol GJ, Breidahl WH, Bulsara MK et al. Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load. Arthritis Rheum 2011;63: Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic haemochromatosis. Hepatology 1997;25: Schumacher HR, Straka PC, Krikker MA et al. The arthropathy of hemochromatosis. Recent studies. Ann N Y Acad Sci 1988;526: Richette P, Eymard C, Deberg M et al. Increase in type II collagen turnover after iron depletion in patients with hereditary hemochromatosis. Rheumatology Oxford 2010;49: Guggenbuhl P, Deugnier Y, Boisdet JF et al. Bone mineral density in men with genetic hemochromatosis and HFE mutation. Osteoporosis Int 2005; 16: Valenti L, Varenna M, Fracanzani Al et al. Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. Osteoporosis Int 2009; 20: de Vernejoul MC, Pointillart A, Gollenzer CC et al. Effect of iron overload on bone remodelling in pigs. Am J Pathol 1884;116: Guggenbulh P,Fergelot P, Doyard M et al. Bone status in a mouse model of hemochromatosis. Osteop Intn211;22: Guggenbulh P, Filmon R, Mabilleua G et al. Iron inhibits hydroxyapatite crystal growth in vitro. Metabolism 2008; 57: Fracanzani AL, Fargion S, Romano R, et al. Portal hypertension and iron depletion in patients with genetic hemochromatosis. Hepatology 1995; 22: Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110: Thorburn D, Curry G, Spooner R, et al. The role of iron and haemochromatosis gene mutations in the progression of liver disease in chronic hepatitis C. Gut 2002; 50: 248.

5 52. Elmberg M, Hultcrantz R, Ekbom A, et al. Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 2003; 125: European Association for the Study of the liver. EASL clinical practice guidelines for HFE Hemochromatosis. J Hepatology 2010;53: Salonen JT, Tuomainen TP, Kontula K. Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes in healthy men: Prospective cohort study. BMJ 2000; 320: Rivers J, Garrahy P, Robinson W, Murphy A. Reversible cardiac dysfunction in hemochromatosis. Am Heart J 1987; 113: Kelly TM, Edwards CQ, Meikle AW, et al. Hypogonadism in hemochromatosis: Reversal with iron depletion. Ann Intern Med 1984; 101: Edwards CQ, Kelly TM, Ellwein G, Kushner JP. Thyroid disease in hemochromatosis. Increased incidence in homozygous men. Arch Intern Med 1983; 143: van Asbeck BS, Verbrugh HA, van Oost VA, et al. Listeria monocytogenes meningitis and decreased phagocytosis associated with iron overload. Br Med J 1982; 284: Carniel E, Mazigh D, Mollaret HH. Expression of iron-regulated proteins in Yersinia species and their relation to virulence. Infect Immun 1987; 55: Bullen JJ, Spalding PB, Ward CG, Gutteridge JM. Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. Arch Intern Med 1991; 151: Powell LW, Jazwinsk EC. Hemochromatosis in heterozygotes. N Engl J Med 1996; 335: Adams PC, Reboussin D, McLaren C et al. Biological variety of transferring saturation and unsaturated iron binding capacity. Am J Med 1997;120:e1-e Seamark CJ, Hutchinson M, Heath I, McMullin MF. Controversy in primary care: Should asymptomatic haemochromatosis be treated? Treatment can be onerous for patients and doctors. BMJ 2000;230: Barton JC. Chelation therapy of iron overload. Curr Gastroenterol Rep 2007;9:74-92.

6 65. Crawford DH, Fletcher LM, Hubscher SG, et al. Patient and graft survival after liver transplantation for hereditary hemochromatosis implications for pathogenesis. Hepatology 2004; 39: