2001, Número 4
<< Anterior Siguiente >>
Rev Med Hosp Gen Mex 2001; 64 (4)
Hemocromatosis. Revisión de la literatura y presentación de un caso ilustrativo
León-González MG, Zárate-Sánchez T, Vargas-Trujillo S, Aguilar Martínez E, Martínez-Bistrain A, Palacios-López C, Gutiérrez-Romero M
Idioma: Español
Referencias bibliográficas: 28
Paginas: 246-250
Archivo PDF: 109.04 Kb.
RESUMEN
Se revisan los conceptos de hemocromatosis, sus causas, frecuencia y tratamientos. Se presenta un caso que inicialmente se prestó a discusión si se trataba de una hemocromatosis primaria no HFE, que finalmente se consideró secundaria a una hepatitis viral C crónica con datos de cirrosis. Se hacen las consideraciones, de lo raro que es en nuestro medio esta patología, aun las formas secundarias, no así en los países sajones y europeos en donde la hemocromatosis primaria HFE se considera el trastorno genético más frecuente en la raza blanca (7%) con una prevalencia de 1 en 300.
REFERENCIAS (EN ESTE ARTÍCULO)
Adams PC, Valberg LS. Evolving expression of hereditary hemochromatosis. Semin Liver Dis 1996; 16: 47-54.
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Stromeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110: 1107-1119.
Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with hemochromatosis. Hepatology 1997; 25: 162-166.
Burke W, Thomas E, Khoury MJ. Hereditary hemochromatosis, gene discovery and its implications for population-based screening. JAMA 1998; 280: 172-178.
Von Recklinghhausen FD. Uber haemochromatosis. Heidelberg: Taggeblatt (62) Versammling Dtsch Naturforsch Artze; 1889: 324-325.
Powell LW, George DK, McDonnell SM, Kowdley KV. Diagnosis of hemochromatosis. Ann Intern Med 1998; 129: 925-931.
Sheldon JH. Haemochromatosis. London: Oxford Univ Pr, 1935.
Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut 1976; 2: 332-334.
Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 251-252.
Carella M, D’Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D et al. Mutation analysis of the HLA-H gene in Italian Hemochromatosis patients. Am J Hum Genet 1997; 60: 828-832.
Shaheen NJ, Bacon BR, Grimm IS. Clinical characteristic of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology 1998; 28: 526-529.
Zhou XY, Tomatsu S, Fleming RE et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci USA 1998; 95: 2492-2497.
Beutler E, Gelbart T, West C et al. Mutation analysis in hereditary hemochromatosis. Blood Cell Mol Dis 1996; 22: 187-914.
Feder JN, Tsuchihashi Z, Irrinki A et al. The hemochromatosis founder mutation in HLA-H disrupts beta-2 microglobulin interaction and cell surface expression. J Biol Chem 1997; 272: 14025-14028.
Powell LW, Jazwinska E, Halliday JW. Primary iron overload. In: Brock JH, Halliday JW, Pippard MJ, Powell LW (eds). Iron metabolism in health and disease. Philadelphia: WB Saunders, 1994: 227-70.
Crawford DH, Jazwinska EC, Cullen LM, Powell LM. Expression of HLA-linked hemochromatosis subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998; 114: 1003-1008.
Brittenham GM, Franks AL, Rickles FR. Research priorities in hereditary hemochromatosis. Ann Intern Med 1998; 129: 993-996.
Himmelmann A, Fehr J. Cloning of the hereditary hemochromatosis gene: Implications for pathogenesis, diagnosis, and screening. J Lab Clin Med 1999; 133: 229-236.
Looker AC, Johnson CL. Prevalence of elevated serum transferrin saturation in adults in the United States. Annals of Internal Medicine 1998; 129: 940-945.
Niederau C, Fischer R, Sonnenberg A et al. Survival and causes of death in cirrhotic and in non cirrhotic patients with primary hemochromatosis. N Engl J Med 1985; 313: 1256-1262.
Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991; 101: 368-372.
Press RD. Hereditary hemochromatosis: Impact of molecular and iron-based testing on the diagnosis, treatment, and prevention of a common, chronic disease. Arch Pathol Lab Med 1999; 123: 1053-1059.
Heishko C, Weatherall DJ. Iron-chelating therapy. Crit Rev Clin Lab Sci 1988; 26: 303-304.
Gutiérrez RM, Vargas TS. Comunicación personal.
Valdez E, Chávez LG. Diabetes mellitus e hiperpigmentación cutánea generalizada. Rev Fac Med UNAM 1999; 42: 244-249.
Rodríguez A, García GR, Siorda GA, Fernan F, Cantú MA, Tejeda S. Hemocromatosis neonatal. Informe de 3 casos de autopsias. Rev Inv Clin Mex 1999; 51: 81-87.
Seamark C, Hutchinson M. Should asymptomatic haemochromatosis be treated? BMJ 2000; 320: 1314-7.
Olynyk JK. Hereditary haemochromatosis: diagnosis and management in the gene era. Liver 1999; 19: 73-80.