Información del artículo
El Texto completo está disponible en PDF
Referencias bibliográficas
[1.]
Powell L.W., Isselbacher K.J..
Hemocromatosis.
Principios de Medicina Interna. Decimocuarta Edición, pp. 2444-2448
[2.]
Roa S., Martín-Oterino J.A., Rodríguez R.E., García Berrocal B., Sánchez-Rodríguez A., González-Sarmiento R..
Estudio del gen HFE en una familia española con hemocromatosis hereditaria.
Med Clin (Barc), 116 (2001), pp. 100-103
[3.]
Von Recklinghausen F..
Uber hamochromatose.
Heidelberg: Tageblatt (62) Versammling Dtsch Naturforsch Artze, 62 (1889), pp. 324-325
[4.]
Trouseau A..
Glycosurie, diabete sucre.
Anonymus Clinique medicale de l'Hotel-Dieu de Paris, 2, pp. 663-693
[5.]
Sheldon J.H..
Haemochromatosis, Oxford University Press, (1935),
[6.]
Simon M., Bourel M., Fauchet R., Genetet B..
Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis.
Gut, 2 (1976), pp. 332-334
[7.]
Jouanolle A.M., Gandon G., Jezequel P., Blayau M., Campion M.L., Yaouanq J., Mosser J., Fergelot P., Chauvel B., Bouric P., Carn G., Andrieux N., Gicquel I., Le Gall J.Y., David V..
Haemochromatosis and HLA-H.
Nat Genet, 14 (1996), pp. 251-252
[8.]
Feder J.N., Tsuchihashi Z., Irrinki A., Lee V.K., Mapa F.A., Morikang E., Prass C.E., Starnes S.M., Wolff R.K., Parkkila S., Sly W.S., Schatzman R.C..
The hemochromatosis founder mutation in HLA-H disrupts beta-2-microglobulin interaction and cell surface expression.
J Biol Chem, 272 (1997), pp. 14025-14028
[9.]
Jazwinska E.C., Cullen L.M., Busfield F., Pyper W.R., Webb S.I., Powell L.W., Morris C.P., Walsh T.P..
Hemochromatosis and HLA-H.
Nat Genet, 14 (1996), pp. 249-251
[10.]
Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., Dormishian F., Domingo R., Ellis M.C., Fullan A., Hinton L.M., Jones N.L., Kimmel B.E., Kronmal G.S., Lauer P., Lee V.K., Loeb D.B., Mapa F.A., McClelland E., Meyer N.C., Mintier G.A., Moeller N., Moore T., Morikang E., Wolff R.K., et al.
A novel MCH class I-Like gene is mutated in patients with hereditary haemochromatosis.
Nat Genet, 13 (1996), pp. 399-408
[11.]
Moreno C., Ortiz de Zárate E., García N..
Hemocromatosis: genética y diagnóstico.
Actualización. Gac Med Bilbao, 96 (1999), pp. 45-50
[12.]
EASL International Consensus Conference on Hemochromatosis.
J Hepatol, 33 (2000), pp. 485-504
[13.]
Lucotte G..
Celtic origin of the C282Y mutation of hemochromatosis.
Blood Cells Mol Dis, 24 (1998), pp. 433-438
[14.]
Pardo A., Salido E., Quintero E..
Hemocromatosis hereditaria: implicaciones clínicas del diagnóstico genético.
Gastroenterol Hepatol, 22 (1999), pp. 415-428
[15.]
Sánchez M., Bruguera M., Bosch J., Rodés J., Ballesta F., Oliva R..
Prevalence of the Cys282T and His63Asp gene mutations in Spanish patients with hereditary hemochromatosis and in controls.
J Hepatol, 29 (1998), pp. 725-728
[16.]
Rhodés D.A., Raha-Chodwury R., Cox T.M., Trowsdale J..
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary hemochromatosis.
J Med Genet, 34 (1997), pp. 761-764
[17.]
Niederau C., Fisher R., Sonnenberg A., Stremmel W., Trampisch H.J., Strohmeyer G..
Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis.
N Engl J Med, 313 (1985), pp. 1256-1262
[18.]
Niederau C., Fischer R., Purschel A., Stremmel W., Haüssinguer D., Strohemeyer G..
Long term survival in patients with hereditary hemochromatosis.
Gastroenterology, 110 (1996), pp. 1107-1119
[19.]
Bonkovsky H., Jawaid Q., Totorelli K., et al.
Nonalcoholic steatohepatitis and iron: increased prevalence of mutation of the HFE gene in non-alcoholic steatohepatitis.
J Hepatol, 31 (1999), pp. 421-429
[20.]
Bacon B.R..
Diagnosis and management of hemochromatosis.
Gastroenterology, 113 (1997), pp. 995-999
[21.]
Pietrangelo A..
Hemochromatosis 1998: is one gene enough?.
J Hepatol, 29 (1998), pp. 502-509
[22.]
Gordeuk V., Mukiibi J., Hasstedt S.J., Samowitz W., Edwards C.Q., West G., Ndambire S., Emmanual J., Nkanza N., Chapanduka Z., et al.
Iron overload in Africa: interaction betwen a gene and dietary iron content.
N Engl J Med, 326 (1992), pp. 95-100
[24.]
Moirand R., Mortaji A., Loréal O., Paillard F., Brissot P., Deugnier Y..
A new syndrome of liver iron overload with normal transferrin saturation.
Lancet, 349 (1997), pp. 95-97
[25.]
Yoshida K., Furihata K., Takeda S., Nakamura A., Yamamoto K., Morita H., Hiyamuta S., Ikeda S., Shimizu N., Yanagisawa N..
A mutation in theceruloplasmin gene is associated with systemic hemosiderosis in humans.
Nat Genet, 9 (1995), pp. 267-272
[27.]
Camaschella C., Roetto A., Ciciliano M., Pasquero P., Bosio S., Gubetta L., et al.
Juvenile and adult hemochromatosis are distinct genetic disorders.
Eur J Hum Genet, 5 (1997), pp. 371-375
[28.]
Haile D..
Regulation of genes of iron metabolism by the iron-responsive proteins.
Am J Med Sci, 318 (1999), pp. 230-240
[29.]
Feder J., Penny D.M., Irrinki A., Lee V.K., Lebron J.A., Watson N., et al.
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.
Proc Natl Acad Sci USA, 93 (1998), pp. 1472-1477
[30.]
Felitti V.J.B.E..
New developments in Hereditary Hemochromatosis.
Am J Med Sci, 318 (1999), pp. 257-268
[31.]
Piperno A., Arosio C., Fargion S., Roetto A., Nicoli C., Girelli D., Sbaiz L., Gasparini P., Boari G., Sampietro M., Camaschella C..
The ancestral haplotype is associated with a severe phenotype expression in Italian patients.
Hepatology, 24 (1996), pp. 43-46
[32.]
Fracanzani A.L., Fargion S., Romano R., Conte D., Piperno A., D'Alba R., Mandelli C., Fraquelli M., Pacchetti S., Braga M., et al.
Portal hypertension and iron depletion in patients with genetic hemochromatosis.
Hepatology, 22 (1995), pp. 1127-1131
[33.]
Caro-Patón Gómez A..
Enfermedades metabólicas del hígado.
Medicina Interna. Decimocuarta edición, pp. 421-424
[34.]
Yaouanq J.M..
Diabetes and haemochromatosis: Current concepts, management and prevention.
Diabete Metab, 21 (1995), pp. 319-329
[35.]
Nelson R.L., Baldus W.P., Rubenstein A.H., Go V.L., Service F.J..
Pancreatic alpha-cell function in diabetic hemochromatotic subjets.
J Clin Endocrinol Metab, 49 (1979), pp. 412-416
[36.]
Cundy T., Bomford A., Butler J., Wheeler M., Willians R..
Hypogonadism and sexual dysfunction in hemochromatosis: The effects of cirrhosis and diabetes.
J Clin Endocrinol Metab, 69 (1989), pp. 110-116
[37.]
Fernández-Yáñez J., Palomo J., Castellano N., García J., García de la Villa B., Delcan J.L..
Patología cardiaca de origen extracardiaco: La repercusión cardica de la hemocromatosis y amiloidosis.
Rev Esp Cardiol, 50 (1997), pp. 790-801
[38.]
Schumacher H.J..
Hemochromatosis and arthritis.
Arthritis Reum, 7 (1964), pp. 41-50
[39.]
Von Kempis J..
Artropathy in hereditary hemochromatosis.
Curr Opin Rheumatol, 13 (2000), pp. 80-83
[40.]
Alonso J.L., de la Hera M., Sánchez S., Rodríguez C., Pastor J.M., Peña J.L..
Artropatía y diagnóstico precoz de la hemocromatosis idiopática.
Estudio familiar. Rev Esp Reumatol, 17 (1989), pp. 6-9
[41.]
Benito S., de Miguel E..
Hemocromatosis primaria.
Rev Esp Reumatol, 16 (1989), pp. 93-97
[42.]
Walker E., Walker S.M..
Effects of iron overload on the inmune system.
Ann Clin Lab Sci, 30 (2000), pp. 354-365
[43.]
Pérez C., Jiménez C., Migueliz E., Torroba L., Montes M..
Hemocromatosis y bacteriemia cau- sada por Yersinia enterocolitica.
Gastroenterol Hepatol, 18 (1995), pp. 445
[44.]
Buti M., Esteban R..
Diagnóstico y tratamiento de la hemocromatosis idiopática.
Med Clin (Barc), 89 (1987), pp. 835-837
[45.]
Powel L.W., George K., McDonnell S.M., Kowdley K.V..
Diagnosis of Hemochromatosis.
Ann Intern Med, 129 (1998), pp. 925-931
[46.]
Edwards C.Q., Kushner J.P..
Screening for hemochromatosis.
N Engl J Med, 328 (1993), pp. 1616-1620
[47.]
El-Serag H.B., Inadomi J.M., Kowdley K.V..
Screening for hereditary hemochromatosis in siblings and children of affected patients.
Ann Intern Med, 132 (2000), pp. 261-269
[48.]
Muñoz Sanchez M.M., Núñez Martínez O., Torres Orgaz A., del Castillo Rueda A., Portugal Alvarez J..
Hemocromatosis primaria en jóvenes asintomáticos.
An Med Interna, 17 (2000), pp. 9-12
[49.]
Powell L.W., Subramaniam V.N., Yapp T.R..
Haemochromatosis in the new millenium.
J Hepatol, 32 (1999), pp. 48-62
[50.]
Bruguera M..
Biopsia hepática en las enfermedades hepáticas por depósito.
Gastroenterol Hepatol, 22 (1999), pp. 20-24
[51.]
Summers K.M., Halliday J.W., Powell LW..
Identification of homozygous hemochromatosis subjets by measurement of hepatic iron index.
Hepatology, 12 (1990), pp. 20-25
[52.]
Brunt E., Olynik J.K., Britton R.S., Jaway C.G., Di Bisergie A.M., Bacon BR..
Hystological evaluation of iron in liver biopsies: relationship to HFE mutations.
Am J Gastroenterol, 95 (2000), pp. 1788-1793
[53.]
Sallie R.W., Reed W.D., Shilkin K.B..
Confirmation of the efficacy of hepatic tissue iron index in differentiating genetic haemochromatosis from alcoholic liver disease complicated by alcoholic haemosiderosis.
Gut, 32 (1991), pp. 207-210
[54.]
Bacon B.R., Olynyk J.K., Brunt E.M., Britton R.S., Wolff R.K..
HFE genotype in patients with hemochromatosis and other liver diseases.
Ann Intern Med, 130 (1999), pp. 953-962
[55.]
Oliva R., Sánchez M., Bruguera M., Rodés J..
Utilidad clínica de la detección de mutaciones del gen HFE en la hemocromatosis.
Gastroenterol Hepatol, 23 (2000), pp. 433-435
[56.]
Guyader D., Jacquelinet C., Moirand R., Turlin B., Mendler M.H., Chaperon J., David V., Brissot P., Adams P., Deugnier Y..
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis.
Gastroenterology, 115 (1998), pp. 929-936
[57.]
Brandhagen D.J., Fairbanks V.F., Batts K.P., Thibodeau S.N..
Update on hereditary hemochromatosis and HFE gene.
Mayo Clin Proc, 74 (1999), pp. 917-921
[58.]
Crawford D.H.G., Halliday J.W..
Current concepts in rational therapy for haemocromatosis.
Drugs, 41 (1991), pp. 875-882
[59.]
Martí-Bonmatí L..
Pruebas de imagen para el diagnóstico de enfermedades metabólicas.
Gastroenterol Hepatol, 22 (1999), pp. 25-26
[60.]
Ernst O., Sergent G., Bonvarlet P., Canva-Delcambre V., Paris J.C., L'Hermine C..
Hepatic iron overload: diagnosis and quantitation with MR imaging.
AJR, 168 (1997), pp. 1205-1208
[61.]
Mura C., Raguenes O., Férec C..
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild forms of hemochromatosis.
Blood, 93 (1999), pp. 2502-2505
[62.]
Pietrangelo A., Montosi G., Totaro A., Garuti C., Conte D., Casanelli S., et al.
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
N Engl J Med, 341 (1999), pp. 725-732
[63.]
Ortiz V., Berenguer J..
Implicaciones clínicas del diagnóstico genético de la hemocromatosis.
Med Clin (Barc), 116 (2001), pp. 98-99
[64.]
Moreno L., Vallcorba P., Boixeda D., Cabello P., Bermejo F., San Román C..
Utilidad de la detección de las mutaciones Cys282Tyr e His63Asp en el diagnóstico de la hemocromatosis hereditaria.
Rev Clin Esp, 199 (1999), pp. 632-636
[65.]
Enríquez R., Morales P., Castro M.J., et al.
The most frequent HFE allele linked to porphyria cutanea tarda in Mediterraneans is His63Asp.
Hepatology, 30 (1999), pp. 819-820
[66.]
Risch N..
Haemochromatosis, HFE and gene complexity.
Nat Genet, 17 (1997), pp. 375-376
[68.]
McLaren C.J., Bett J.H., Nye J.A., Halliday J.W..
Congestive cardiomyopathy and haemochromatosis-rapid progression possibly accelerated by excessive ingestion of ascorbic acid.
Aust N Z J Med, 12 (1982), pp. 187-188
[69.]
Roeser H..
The role of ascorbic acid in the turnover of storage iron.
Semin Hematol, 20 (1983), pp. 91-100
[70.]
Barton J.C., McDonnell S.M., Adams P.C., Brissot P., Powell L.W., Edwards C.Q., Cook J.D., Kowdley K.V..
the Hemochromatosis Management Working group, Management of Hemochromatosis.
Ann Intern Med, 129 (1998), pp. 932-939
[71.]
Seamark C.J., Hutchinson M..
Should asymptomatic haemochromatosis be treated? Treatment can be onerous for patient and doctor.
BMJ, 320 (2000), pp. 1314-1317
Copyright © 2002. Academia de Ciencias Médicas de Bilbao