Logo Xem trang đào tạo trực tuyến arrow1
space


Tham khảo

(Tham khảo chính: ICPC )

  1. Cullis, J.O.; Fitzsimons, E.J.; Griffiths, W.J.; Tsochatzis, E.; Thomas, D.W.; Haematology, T.B.S.F. Investigation and management of a raised serum ferritin. Br. J. Haematol. 2018, 181, 331–340. [Google Scholar] [CrossRef] [PubMed]
  2. Jacobs, A.; Miller, F.; Worwood, M.; Beamish, M.R.; Wardrop, C.A. Ferritin in the serum of normal subjects and patients with iron deficiency and iron overload. Br. Med. J. 1972, 4, 206–208. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  3. Knovich, M.A.; Storey, J.A.; Coffman, L.G.; Torti, S.V.; Torti, F.M. Ferritin for the clinician. Blood Rev. 2009, 23, 95–104. [Google Scholar] [PubMed]
  4. Guyatt, G.H.; Oxman, A.D.; Ali, M.; Willan, A.; McIlroy, W.; Patterson, C. Laboratory diagnosis of iron-deficiency anemia: An overview. J. Gen. Intern. Med. 1992, 7, 145–153. [Google Scholar] [CrossRef]
  5. Beaton, M.D.; Adams, P.C. Treatment of hyperferritinemia. Ann. Hepatol. 2012, 11, 294–300. [Google Scholar]
  6. Torti, F.M.; Torti, S.V. Regulation of ferritin genes and protein. Blood 2002, 99, 3505–3516. [Google Scholar]
  7. Adams, P.C.; Barton, J.C. A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation. J. Hepatol. 2011, 55, 453–458. [Google Scholar] [CrossRef] [Green Version]
  8. Ellervik, C.; Marott, J.L.; Tybjaerg-Hansen, A.; Schnohr, P.; Nordestgaard, B.G. Total and cause-specific mortality by moderately and markedly increased ferritin concentrations: General population study and metaanalysis. Clin. Chem. 2014, 60, 1419–1428. [Google Scholar] [CrossRef] [Green Version]
  9. Ogilvie, C.; Fitzsimons, K.; Fitzsimons, E.J. Serum ferritin values in primary care: Are high values overlooked? J. Clin. Pathol. 2010, 63, 1124–1126. [Google Scholar]
  10. Harrison, P.M.; Arosio, P. The ferritins: Molecular properties, iron storage function and cellular regulation. Biochim. Biophys. Acta 1996, 1275, 161–203. [Google Scholar] [CrossRef] [Green Version]
  11. Hentze, M.; Caughman, S.; Rouault, T.; Barriocanal, J.; Dancis, A.; Harford, J.; Klausner, R. Identification of the iron-responsive element for the translational regulation of human ferritin mRNA. Science 1987, 238, 1570–1573. [Google Scholar] [CrossRef] [Green Version]
  12. Anderson, G.J.; Frazer, D.M. Current understanding of iron homeostasis. Am. J. Clin. Nutr. 2017, 106, 1559–1566. [Google Scholar] [CrossRef] [Green Version]
  13. Ferreira, C.; Bucchini, D.; Martin, M.-E.; Levi, S.; Arosio, P.; Grandchamp, B.; Beaumont, C. Early embryonic lethality of H ferritin gene deletion in mice. J. Biol. Chem. 2000, 275, 3021–3024. [Google Scholar] [CrossRef] [Green Version]
  14. Arosio, P.; Yokota, M.; Drysdale, J.W. Characterization of serum ferritin in iron overload: Possible identity to natural apoferritin. Br. J. Haematol. 1977, 36, 199–207. [Google Scholar] [CrossRef]
  15. ten Kate, J.; Wolthuis, A.; Westerhuis, B.; van Deursen, C. The iron content of serum ferritin: Physiological importance and diagnostic value. Eur. J. Clin. Chem. Clin. Biochem. 1997, 35, 53–56. [Google Scholar] [CrossRef]
  16. Cohen, L.A.; Gutiérrez, L.; Weiss, A.; Leichtmann-Bardoogo, Y.; Zhang, D.-L.; Crooks, D.R.; Sougrat, R.; Morgenstern, A.; Galy, B.; Hentze, M.W.; et al. Serum ferritin is derived primarily from macrophages through a nonclassical secretory pathway. Blood 2010, 116, 1574–1584. [Google Scholar] [CrossRef] [Green Version]
  17. Santambrogio, P.; Cozzi, A.; Levi, S.; Arosio, P. Human serum ferritin G-peptide is recognized by anti-L ferritin subunit antibodies and concanavalin-A. Br. J. Haematol. 1987, 65, 235–237. [Google Scholar] [CrossRef]
  18. Wang, W.; Knovich, M.A.; Coffman, L.G.; Torti, F.M.; Torti, S.V. Serum ferritin: Past, present and future. Biochim. Biophys. Acta 2010, 1800, 760–769. [Google Scholar] [CrossRef] [Green Version]
  19. Ghosh, S.; Hevi, S.; Chuck, S.L. Regulated secretion of glycosylated human ferritin from hepatocytes. Blood 2004, 103, 2369–2376. [Google Scholar] [CrossRef] [Green Version]
  20. Kannengiesser, C.; Jouanolle, A.-M.; Hetet, G.; Mosser, A.; Muzeau, F.; Henry, D.; Bardou-Jacquet, E.; Mornet, M.; Brissot, P.; Deugnier, Y.; et al. A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. Haematologica 2009, 94, 335–339. [Google Scholar] [CrossRef]
  21. Andrews, N.C. Forging a field: The golden age of iron biology. Blood 2008, 112, 219–230. [Google Scholar] [CrossRef] [Green Version]
  22. Anderson, E.R.; Shah, Y.M. Iron homeostasis in the liver. Compr. Physiol. 2013, 3, 315–330. [Google Scholar]
  23. Kohgo, Y.; Ikuta, K.; Ohtake, T.; Torimoto, Y.; Kato, J. Body iron metabolism and pathophysiology of iron overload. Int. J. Hematol. 2008, 88, 7–15. [Google Scholar] [CrossRef] [Green Version]
  24. Donovan, A.; Lima, C.A.; Pinkus, J.L.; Pinkus, G.S.; Zon, L.I.; Robine, S.; Andrews, N.C. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab. 2005, 1, 191–200. [Google Scholar] [CrossRef] [Green Version]
  25. Wallace, D.F. The regulation of iron absorption and homeostasis. Clin. Biochem. Rev. 2016, 37, 51–62. [Google Scholar]
  26. Harrison-Findik, D.D. Role of alcohol in the regulation of iron metabolism. World J. Gastroenterol. 2007, 13, 4925–4930. [Google Scholar] [CrossRef]
  27. Mena, N.P.; Esparza, A.; Tapia, V.; Valdes, P.; Nunez, M.T. Hepcidin inhibits apical iron uptake in intestinal cells. Am. J. Physiol. Gastrointest. Liver Physiol. 2008, 294, 192–198. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  28. Brasse–Lagnel, C.; Karim, Z.; Letteron, P.; Bekri, S.; Bado, A.; Beaumont, C. Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradation. Gastroenterology 2011, 140, 1261–1271 e1. [Google Scholar] [CrossRef] [PubMed]
  29. Adams, P.C.; Barton, J.C. Haemochromatosis. Lancet 2007, 370, 1855–1860. [Google Scholar] [CrossRef]
  30. Fleming, R.E.; Ponka, P. Iron overload in human disease. N. Engl. J. Med. 2012, 366, 348–359. [Google Scholar] [CrossRef] [Green Version]
  31. Bacon, B.R.; Adams, P.C.; Kowdley, K.V.; Powell, L.W.; Tavill, A.S. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011, 54, 328–343. [Google Scholar] [CrossRef] [Green Version]
  32. Adams, P.C.; Reboussin, D.M.; Barton, J.C.; McLaren, C.E.; Eckfeldt, J.H.; McLaren, G.D.; Dawkins, F.W.; Acton, R.T.; Harris, E.L.; Gordeuk, V.R.; et al. Hemochromatosis and iron-overload screening in a racially diverse population. N. Engl. J. Med. 2005, 352, 1769–1778. [Google Scholar] [CrossRef] [Green Version]
  33. Koperdanova, M.; Cullis, J.O. Interpreting raised serum ferritin levels. BMJ 2015, 351, 3692. [Google Scholar] [CrossRef] [Green Version]
  34. Hearnshaw, S.; Thompson, N.P.; McGill, A. The epidemiology of hyperferritinaemia. World J. Gastroenterol. 2006, 12, 5866–5869. [Google Scholar] [CrossRef]
  35. Olynyk, J.K.; Cullen, D.J.; Aquilia, S.; Rossi, E.; Summerville, L.; Powell, L.W. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 1999, 341, 718–724. [Google Scholar] [CrossRef] [Green Version]
  36. European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J. Hepatol. 2010, 53, 3–22. [Google Scholar] [CrossRef]
  37. Tran, T.N.; Eubanks, S.K.; Schaffer, K.J.; Zhou, C.Y.; Linder, M.C. Secretion of ferritin by rat hepatoma cells and its regulation by inflammatory cytokines and iron. Blood 1997, 90, 4979–4986. [Google Scholar] [CrossRef]
  38. Roy, C.N.; Andrews, N.C. Anemia of inflammation: The hepcidin link. Curr. Opin. Hematol. 2005, 12, 107–111. [Google Scholar] [CrossRef]
  39. Ganz, T. Anemia of Inflammation. N. Engl. J. Med. 2019, 381, 1148–1157. [Google Scholar] [CrossRef]
  40. Kernan, K.F.; Carcillo, J.A. Hyperferritinemia and inflammation. Int. Immunol. 2017, 29, 401–409. [Google Scholar] [CrossRef]
  41. Rosario, C.; Zandman-Goddard, G.; Meyron-Holtz, E.G.; D’Cruz, D.P.; Shoenfeld, Y. The hyperferritinemic syndrome: Macrophage activation syndrome, Still’s disease, septic shock and catastrophic antiphospholipid syndrome. BMC Med. 2013, 11, 185. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  42. Lin, T.F.; Ferlic-Stark, L.L.; Allen, C.E.; Kozinetz, C.A.; McClain, K.L. Rate of decline of ferritin in patients with hemophagocytic lymphohistiocytosis as a prognostic variable for mortality. Pediatr. Blood Cancer 2011, 56, 154–155. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  43. Allen, C.E.; Yu, X.; Kozinetz, C.A.; McClain, K.L. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr. Blood Cancer 2008, 50, 1227–1235. [Google Scholar] [CrossRef] [PubMed]
  44. Schram, A.M.; Campigotto, F.; Mullally, A.; Fogerty, A.; Massarotti, E.; Neuberg, D.; Berliner, N. Marked hyperferritinemia does not predict for HLH in the adult population. Blood 2015, 125, 1548–1552. [Google Scholar] [CrossRef]
  45. Mehta, P.; McAuley, D.F.; Brown, M.; Sanchez, E.; Tattersall, R.S.; Manson, J.J. COVID-19: Consider cytokine storm syndromes and immunosuppression. Lancet 2020, 395, 1033–1034. [Google Scholar] [CrossRef]
  46. Zhou, F.; Yu, T.; Du, R.; Fan, G.; Liu, Y.; Liu, Z.; Xiang, J.; Wang, Y.; Song, B.; Gu, X.; et al. Clinical course and risk factors for mortality of adult inpatients with COVID-19 in Wuhan, China: A retrospective cohort study. Lancet 2020, 395, 1054–1062. [Google Scholar] [CrossRef]
  47. Cheng, L.; Li, H.; Li, L.; Liu, C.; Yan, S.; Chen, H.; Li, Y. Ferritin in the coronavirus disease 2019 (COVID-19): A systematic review and meta-analysis. J. Clin. Lab. Anal. 2020, 34, e23618. [Google Scholar] [CrossRef]
  48. Lorcerie, B.; Audia, S.; Samson, M.; Millière, A.; Falvo, N.; Leguy-Seguin, V.; Berthier, S.; Bonnotte, B. Diagnosis of hyperferritinemia in routine clinical practice. Press Med. 2017, 46, e329–e338. [Google Scholar] [CrossRef]
  49. Kell, D.B.; Pretorius, E. Serum ferritin is an important inflammatory disease marker, as it is mainly a leakage product from damaged cells. Metallomics 2014, 6, 748–773. [Google Scholar] [CrossRef] [Green Version]
  50. Milic, S.; Mikolasevic, I.; Orlic, L.; Devcic, E.; Starcevic-Cizmarevic, N.; Stimac, D.; Kapovic, M.; Ristic, S. The Role of Iron and Iron Overload in Chronic Liver Disease. Med. Sci. Monit. 2016, 22, 2144–2151. [Google Scholar] [CrossRef] [Green Version]
  51. Moirand, R.; Lescoat, G.; Delamaire, D.; Lauvin, L.; Campion, J.P.; Deugnier, Y.; Brissot, P. Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal. Alcohol Clin. Exp. Res. 1991, 15, 963–969. [Google Scholar] [CrossRef]
  52. Moirand, R.; Kerdavid, F.; Loréal, O.; Hubert, N.; Leroyer, P.; Brissot, P.; Lescoat, G. Regulation of ferritin expression by alcohol in a human hepatoblastoma cell line and in rat hepatocyte cultures. J. Hepatol. 1995, 23, 431–439. [Google Scholar] [CrossRef]
  53. Harrison-Findik, D.D.; Klein, E.; Crist, C.; Evans, J.; Timchenko, N.; Gollan, J. Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology 2007, 46, 1979–1985. [Google Scholar] [CrossRef]
  54. Ioannou, G.N.; Weiss, N.S.; Kowdley, K.V. Relationship between transferrin-iron saturation, alcohol consumption, and the incidence of cirrhosis and liver cancer. Clin. Gastroenterol. Hepatol. 2007, 5, 624–629. [Google Scholar] [CrossRef]
  55. Ioannou, G.N.; Dominitz, J.A.; Weiss, N.S.; Heagerty, P.J.; Kowdley, K.V. The effect of alcohol consumption on the prevalence of iron overload, iron deficiency, and iron deficiency anemia. Gastroenterology 2004, 126, 1293–1301. [Google Scholar] [CrossRef]
  56. Whitfield, J.B.; Zhu, G.; Heath, A.C.; Powell, L.W.; Martin, N.G. Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers. Alcohol Clin. Exp. Res. 2001, 25, 1037–1045. [Google Scholar] [CrossRef]
  57. Conte, D.; Corsetti, M.; Colli, A.; Bardella, M.T.; Cocciolo, M.; Fraquelli, A.M. Iron-related indexes in chronic alcoholics. Effect of alcohol withdrawal. Ital. J. Gastroenterol. Hepatol. 1998, 30, 534–538. [Google Scholar]
  58. Brudevold, R.; Hole, T.; Hammerstrom, J. Hyperferritinemia is associated with insulin resistance and fatty liver in patients without iron overload. PLoS ONE 2008, 3, e3547. [Google Scholar] [CrossRef] [Green Version]
  59. Jehn, M.; Clark, J.M.; Guallar, E. Serum ferritin and risk of the metabolic syndrome in U.S. adults. Diabetes Care 2004, 27, 2422–2428. [Google Scholar] [CrossRef] [Green Version]
  60. Haap, M.; Fritsche, A.; Mensing, H.J.; Haring, H.U.; Stumvoll, M. Association of high serum ferritin concentration with glucose intolerance and insulin resistance in healthy people. Ann. Intern. Med. 2003, 139, 869–871. [Google Scholar] [CrossRef] [Green Version]
  61. Bozzini, C.; Girelli, D.; Olivieri, O.; Martinelli, N.; Bassi, A.; De Matteis, G.; Tenuti, I.; Lotto, V.; Friso, S.; Pizzolo, F.; et al. Prevalence of body iron excess in the metabolic syndrome. Diabetes Care 2005, 28, 2061–2063. [Google Scholar] [CrossRef] [Green Version]
  62. Trombini, P.; Piperno, A. Ferritin, metabolic syndrome and NAFLD: Elective attractions and dangerous liaisons. J. Hepatol. 2007, 46, 549–552. [Google Scholar] [CrossRef]
  63. Tuomainen, T.-P.; Nyyssönen, K.; Salonen, R.; Tervahauta, A.; Korpela, H.; Lakka, T.; A Kaplan, G.; Salonen, J.T. Body iron stores are associated with serum insulin and blood glucose concentrations. Population study in 1,013 eastern Finnish men. Diabetes Care 1997, 20, 426–428. [Google Scholar] [CrossRef]
  64. Beaton, M.D.; Chakrabarti, S.; Adams, P.C. Inflammation is not the cause of an elevated serum ferritin in non-alcoholic fatty liver disease. Ann. Hepatol. 2014, 13, 353–356. [Google Scholar] [CrossRef]
  65. Zelber-Sagi, S.; Nitzan-Kaluski, D.; Halpern, Z.; Oren, R. NAFLD and hyperinsulinemia are major determinants of serum ferritin levels. J. Hepatol. 2007, 46, 700–707. [Google Scholar] [CrossRef]
  66. Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernandez-Rodriguez, I.; Fuster, J.L.; Llinares, M.E.; Galera, A.M.; Romero, J.L.; Pérez-Montero, S.; Tornador, C.; et al. L-Ferritin: One gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia—Report of new cases. Pharmaceuticals 2019, 12, 17. [Google Scholar] [CrossRef] [Green Version]
  67. Thurlow, V.; Vadher, B.; Bomford, A.; Delord, C.; Kannengiesser, C.; Beaumont, C.; Grandchamp, B. Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay. Ann. Clin. Biochem. 2012, 49, 302–305. [Google Scholar] [CrossRef] [Green Version]
  68. Mistry, P.K.; Sadan, S.; Yang, R.; Yee, J.; Yang, M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am. J. Hematol. 2007, 82, 697–701. [Google Scholar] [CrossRef] [PubMed]
  69. Nagral, A. Gaucher disease. J. Clin. Exp. Hepatol. 2014, 4, 37–50. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  70. Piperno, A. Classification and diagnosis of iron overload. Haematologica 1998, 83, 447–455. [Google Scholar] [PubMed]
  71. Andrews, N.C. Disorders of iron metabolism. N. Engl. J. Med. 1999, 341, 1986–1995. [Google Scholar] [CrossRef]
  72. Ogilvie, C.; Gaffney, D.; Murray, H.; Kerry, A.; Haig, C.; Spooner, R.; Fitzsimons, E.J. Improved detection of hereditary haemochromatosis. J. Clin. Pathol. 2015, 68, 218–221. [Google Scholar] [CrossRef]
  73. Wood, M.J.; Skoien, R.; Powell, L.W. The global burden of iron overload. Hepatol. Int. 2009, 3, 434–444. [Google Scholar] [CrossRef] [Green Version]
  74. Grosse, S.D.; Gurrin, L.C.; Bertalli, N.A.; Allen, K.J. Clinical penetrance in hereditary hemochromatosis: Estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes. Genet. Med. 2018, 20, 383–389. [Google Scholar] [CrossRef]
  75. Adams, P.C. Nonexpressing homozygotes for C282Y hemochromatosis: Minority or majority of cases? Mol. Genet. Metab. 2000, 71, 81–86. [Google Scholar] [CrossRef]
  76. Allen, K.J.; Gurrin, L.C.; Constantine, C.C.; Osborne, N.J.; Delatycki, M.B.; Nicoll, A.J.; McLaren, C.E.; Bahlo, M.; Nisselle, A.E.; Vulpe, C.D.; et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N. Engl. J. Med. 2008, 358, 221–230. [Google Scholar] [CrossRef] [Green Version]
  77. Walsh, A.; Dixon, J.L.; Ramm, G.A.; Hewett, D.G.; Lincoln, D.J.; Anderson, G.J.; Subramaniam, V.N.; Dodemaide, J.; Cavanaugh, J.A.; Bassett, M.L.; et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin. Gastroenterol. Hepatol. 2006, 4, 1403–1410. [Google Scholar] [CrossRef]
  78. Alexander, J.; Kowdley, K.V. HFE-associated hereditary hemochromatosis. Genet. Med. 2009, 11, 307–313. [Google Scholar] [CrossRef] [Green Version]
  79. Beutler, E. The significance of the 187G (H63D) mutation in hemochromatosis. Am. J. Hum. Genet. 1997, 61, 762–764. [Google Scholar] [CrossRef] [Green Version]
  80. Fitzsimons, E.J.; Cullis, J.O.; Thomas, D.W.; Tsochatzis, E.; Griffiths, W.J.H.; on behalf of the British Society for Haematology. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br. J. Haematol. 2018, 181, 293–303. [Google Scholar] [CrossRef]
  81. Hamdi-Roze, H.; Beaumont-Epinette, M.P.; Ben Ali, Z.; Le Lan, C.; Loustaud-Ratti, V.; Causse, X.; Loreal, O.; Deugnier, Y.; Brissot, P.; Jouanolle, A.M.; et al. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis. Am. J. Hematol. 2016, 91, 1202–1205. [Google Scholar] [CrossRef] [Green Version]
  82. Merryweather-Clarke, A.T.; Cadet, E.; Bomford, A.; Capron, D.; Viprakasit, V.; Miller, A.; McHugh, P.J.; Chapman, R.W.; Pointon, J.J.; Wimhurst, V.L.; et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 2003, 12, 2241–2247. [Google Scholar] [CrossRef]
  83. Wallace, D.F.; Subramaniam, V.N. Non-HFE haemochromatosis. World J. Gastroenterol. 2007, 13, 4690–4698. [Google Scholar] [CrossRef]
  84. Bardou-Jacquet, E.; Ben Ali, Z.; Beaumont-Epinette, M.P.; Loreal, O.; Jouanolle, A.M.; Brissot, P. Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects. Clin. Res. Hepatol. Gastroenterol. 2014, 38, 143–154. [Google Scholar] [CrossRef] [Green Version]
  85. Pietrangelo, A. Ferroportin disease: Pathogenesis, diagnosis and treatment. Haematologica 2017, 102, 1972–1984. [Google Scholar] [CrossRef] [Green Version]
  86. Donker, A.E.; Raymakers, R.A.P.; Vlasveld, L.T.; Van Barneveld, T.; Terink, R.; Dors, N.; Brons, P.P.T.; Knoers, N.V.A.M.; Swinkels, D.W. Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis. Blood 2014, 123, 3873–3886. [Google Scholar] [CrossRef]
  87. Marchi, G.; Busti, F.; Lira Zidanes, A.; Castagna, A.; Girelli, D. Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis. Front. Neurosci. 2019, 13, 325. [Google Scholar] [CrossRef] [Green Version]
  88. Piperno, A.; Pelucchi, S.; Mariani, R. Inherited iron overload disorders. Transl. Gastroenterol. Hepatol. 2020, 5, 25. [Google Scholar] [CrossRef]
  89. Gangaidzo, I.T.; Moyo, V.M.; Saungweme, T.; Khumalo, H.; Charakupa, R.M.; Gomo, Z.A.R.; Loyevsky, M.; Stearman, R.; La Vaute, T.; Enquist, E.G.; et al. Iron overload in urban Africans in the 1990s. Gut 1999, 45, 278–283. [Google Scholar] [CrossRef]
  90. Gordeuk, V.R. African iron overload. Semin. Hematol. 2002, 39, 263–269. [Google Scholar] [CrossRef]
  91. Siah, C.W.; Ombiga, J.; Adams, L.A.; Trinder, D.; Olynyk, J.K. Normal iron metabolism and the pathophysiology of iron overload disorders. Clin. Biochem. Rev. 2006, 27, 5–16. [Google Scholar] [PubMed]
  92. Bonkovsky, H.L.; Lambrecht, R.W.; Shan, Y. Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol 2003, 30, 137–144. [Google Scholar] [CrossRef]
  93. Sebastiani, G.; Walker, A.P. HFE gene in primary and secondary hepatic iron overload. World J. Gastroenterol. 2007, 13, 4673–4689. [Google Scholar] [CrossRef]
  94. Tung, B.Y.; Emond, M.J.; Bronner, M.P.; Raaka, S.D.; Cotler, S.J.; Kowdley, K.V. Hepatitis C, iron status, and disease severity: Relationship with HFE mutations. Gastroenterology 2003, 124, 318–326. [Google Scholar] [CrossRef] [PubMed]
  95. Ryan Caballes, F.; Sendi, H.; Bonkovsky, H.L. Hepatitis C, porphyria cutanea tarda and liver iron: An update. Liver Int. 2012, 32, 880–893. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  96. Dongiovanni, P.; Fracanzani, A.L.; Fargion, S.; Valenti, L. Iron in fatty liver and in the metabolic syndrome: A promising therapeutic target. J. Hepatol. 2011, 55, 920–932. [Google Scholar] [CrossRef]
  97. Rametta, R.; Dongiovanni, P.; Pelusi, S.; Francione, P.; Iuculano, F.; Borroni, V.; Fatta, E.; Castagna, A.; Girelli, D.; Fargion, S.; et al. Hepcidin resistance in dysmetabolic iron overload. Liver Int. 2016, 36, 1540–1548. [Google Scholar] [CrossRef] [PubMed]
  98. Barisani, D.; Pelucchi, S.; Mariani, R.; Galimberti, S.; Trombini, P.; Fumagalli, D.; Meneveri, R.; Nemeth, E.; Ganz, T.; Piperno, A. Hepcidin and iron-related gene expression in subjects with Dysmetabolic Hepatic Iron Overload. J. Hepatol. 2008, 49, 123–133. [Google Scholar] [CrossRef]
  99. Babitt, J.L.; Lin, H.Y. Mechanisms of anemia in CKD. J. Am. Soc. Nephrol. 2012, 23, 1631–1634. [Google Scholar] [CrossRef] [Green Version]
  100. Rostoker, G.; Griuncelli, M.; Loridon, C.; Couprie, R.; Benmaadi, A.; Bounhiol, C.; Roy, M.; Machado, G.; Janklewicz, P.; Drahi, G.; et al. Hemodialysis-associated hemosiderosis in the era of erythropoiesis-stimulating agents: A MRI study. Am. J. Med. 2012, 125, 991–999.e1. [Google Scholar] [CrossRef]
  101. Kalantar-Zadeh, K.; Rodriguez, R.A.; Humphreys, M.H. Association between serum ferritin and measures of inflammation, nutrition and iron in haemodialysis patients. Nephrol. Dial. Transpl. 2004, 19, 141–149. [Google Scholar] [CrossRef]
  102. Shenoy, N.; Vallumsetla, N.; Rachmilewitz, E.; Verma, A.; Ginzburg, Y. Impact of iron overload and potential benefit from iron chelation in low-risk myelodysplastic syndrome. Blood 2014, 124, 873–881. [Google Scholar] [CrossRef]
  103. Kautz, L.; Jung, G.; Du, X.; Gabayan, V.; Chapman, J.; Nasoff, M.; Nemeth, E.; Ganz, T. Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of beta-thalassemia. Blood 2015, 126, 2031–2037. [Google Scholar] [CrossRef] [Green Version]
  104. Adams, P.C.; McLaren, C.E.; Speechley, M.; McLaren, G.D.; Barton, J.C.; Eckfeldt, J.H. HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 microg/L. Can. J. Gastroenterol. 2013, 27, 390–392. [Google Scholar] [CrossRef] [Green Version]
  105. Lee, M.H.; Means, R.T., Jr. Extremely elevated serum ferritin levels in a university hospital: Associated diseases and clinical significance. Am. J. Med. 1995, 98, 566–571. [Google Scholar] [CrossRef]
  106. Crook, M.A.; Walker, P.L. Extreme hyperferritinaemia; clinical causes. J. Clin. Pathol. 2013, 66, 438–440. [Google Scholar] [CrossRef]
  107. Senjo, H.; Higuchi, T.; Okada, S.; Takahashi, O. Hyperferritinemia: Causes and significance in a general hospital. Hematology 2018, 23, 817–822. [Google Scholar] [CrossRef] [Green Version]
  108. Vanclooster, A.; Cassiman, D.; Van Steenbergen, W.; Swinkels, D.W.; Janssen, M.C. The quality of hereditary haemochromatosis guidelines: A comparative analysis. Clin. Res. Hepatol. Gastroenterol. 2015, 39, 205–214. [Google Scholar] [CrossRef]
  109. McKinnon, E.J.; Rossi, E.; Beilby, J.P.; Trinder, D.; Olynyk, J.K. Factors that affect serum levels of ferritin in Australian adults and implications for follow-up. Clin. Gastroenterol. Hepatol. 2014, 12, 101–108 e4. [Google Scholar] [CrossRef] [Green Version]
  110. Waalen, J.; Felitti, V.J.; Gelbart, T.; Beutler, E. Screening for hemochromatosis by measuring ferritin levels: A more effective approach. Blood 2008, 111, 3373–3376. [Google Scholar] [CrossRef] [Green Version]
  111. Belfeki, N.; Strazzulla, A.; Picque, M.; Diamantis, S. Extreme hyperferritinemia: Etiological spectrum and impact on prognosis. Reumatismo 2020, 71, 199–202. [Google Scholar] [CrossRef] [PubMed]
  112. Sackett, K.; Cunderlik, M.; Sahni, N.; Killeen, A.A.; Olson, A.P. Extreme hyperferritinemia: Causes and impact on diagnostic reasoning. Am. J. Clin. Pathol. 2016, 145, 646–650. [Google Scholar] [CrossRef] [PubMed]
  113. Otrock, Z.K.; Hock, K.G.; Riley, S.B.; De Witte, T.; Eby, C.S.; Scott, M.G. Elevated serum ferritin is not specific for hemophagocytic lymphohistiocytosis. Ann. Hematol. 2017, 96, 1667–1672. [Google Scholar] [CrossRef] [PubMed]
  114. Mariani, R.; Pelucchi, S.; Paolini, V.; Belingheri, M.; di Gennaro, F.; Faverio, P.; Riva, M.; Pesci, A.; Piperno, A.; Valenti, L. Prolonged Exposure to Welding Fumes as a Novel Cause of Systemic Iron Overload; Liver Int.: Silver Spring, MD, USA, 2021. [Google Scholar]
  115. Barton, J.C.; Bertoli, L.F.; Janich, M.R.; Arthur, M.W.; Alford, T.J. Normal transferrin saturation in hemochromatosis. Hosp. Pract. 1991, 26, 46–48. [Google Scholar] [CrossRef]
  116. Adams, P.C. Epidemiology and diagnostic testing for hemochromatosis and iron overload. Int. J. Lab. Hematol. 2015, 37, 25–30. [Google Scholar] [CrossRef]
  117. Gurrin, L.C.; Osborne, N.J.; Constantine, C.C.; McLaren, C.E.; English, D.R.; Gertig, D.M.; Delatycki, M.B.; Southey, M.C.; Hopper, J.L.; Giles, G.G.; et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008, 135, 1945–1952. [Google Scholar] [CrossRef] [Green Version]
  118. Goot, K.; Hazeldine, S.; Bentley, P.; Olynyk, J.; Crawford, D. Elevated serum ferritin—What should GPs know? Aust. Fam. Physician 2012, 41, 945–949. [Google Scholar]
  119. Tavill, A.S.; Adams, P.C. A diagnostic approach to hemochromatosis. Can. J. Gastroenterol. 2006, 20, 535–540. [Google Scholar] [CrossRef]
  120. Dale, J.C.; Burritt, M.F.; Zinsmeister, A.R. Diurnal variation of serum iron, iron-binding capacity, transferrin saturation, and ferritin levels. Am. J. Clin. Pathol. 2002, 117, 802–808. [Google Scholar] [CrossRef] [Green Version]
  121. Adams, P.C.; Reboussin, D.M.; Press, R.D.; Barton, J.C.; Acton, R.T.; Moses, G.C.; Leiendecker-Foster, C.; McLaren, G.D.; Dawkins, F.W.; Gordeuk, V.R.; et al. Biological variability of transferrin saturation and unsaturated iron-binding capacity. Am. J. Med. 2007, 120, 999.e1–999.e7. [Google Scholar] [CrossRef] [Green Version]
  122. Guillygomarc’H, A.; Christian, J.; Romain, M.; Vincent, Q.; Véronique, D.; Deugnier, Y. Circadian variations of transferrin saturation levels in iron-overloaded patients: Implications for the screening of C282Y-linked haemochromatosis. Br. J. Haematol. 2003, 120, 359–363. [Google Scholar] [CrossRef]
  123. Pietrangelo, A. Hereditary hemochromatosis—A new look at an old disease. N. Engl. J. Med. 2004, 350, 2383–2397. [Google Scholar] [CrossRef] [Green Version]
  124. Wood, J.C. Guidelines for quantifying iron overload. Hematol. Am. Soc. Hematol. Educ. Program 2014, 2014, 210–215. [Google Scholar] [CrossRef] [Green Version]
  125. Pelucchi, S.; Mariani, R.; Ravasi, G.; Pelloni, I.; Marano, M.; Tremolizzo, L.; Alessio, M.; Piperno, A. Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. Parkinsonism Relat. Disord. 2018, 51, 36–42. [Google Scholar] [CrossRef]
  126. Vila Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti, A.; Chelban, V.; Houlden, H.; Wood, N.W.; Piubelli, C.; et al. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis. Int. J. Mol. Sci. 2020, 21, 2374. [Google Scholar] [CrossRef] [Green Version]
  127. Ferreira, C.R.; Gahl, W.A. Lysosomal storage diseases. Transl. Sci. Rare Dis. 2017, 2, 1–71. [Google Scholar] [CrossRef] [Green Version]
  128. Beutler, E.; Felitti, V.J.; Koziol, J.A.; Ho, N.J.; Gelbart, T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002, 359, 211–218. [Google Scholar] [CrossRef]
  129. Guyader, D.; Jacquelinet, C.; Moirand, R.; Turlin, B.; Mendler, M.H.; Chaperon, J.; David, V.; Brissot, P.; Adams, P. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998, 115, 929–936. [Google Scholar] [CrossRef]
  130. Porto, G.; Brissot, P.; Swinkels, D.W.; Zoller, H.; Kamarainen, O.; Patton, S.; Alonso, I.; A Morris, M.; Keeney, S. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur. J. Hum. Genet. 2016, 24, 479–495. [Google Scholar] [CrossRef] [Green Version]
  131. Fletcher, L.M.; Dixon, J.L.; Purdie, D.M.; Powell, L.W.; Crawford, D.H. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 2002, 122, 281–289. [Google Scholar] [CrossRef]
  132. Adams, P.C.; Speechley, M.; Kertesz, A.E. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991, 101, 368–372. [Google Scholar] [CrossRef]
  133. Niederau, C.; Fischer, R.; Purschel, A.; Stremmel, W.; Haussinger, D.; Strohmeyer, G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996, 110, 1107–1119. [Google Scholar] [CrossRef]
  134. Niederau, C.; Fischer, R.; Sonnenberg, A.; Stremmel, W.; Trampisch, H.J.; Strohmeyer, G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N. Engl. J. Med. 1985, 313, 1256–1262. [Google Scholar] [CrossRef]
  135. Gordeuk, V.R.; Reboussin, D.M.; McLaren, C.E.; Barton, J.C.; Acton, R.T.; McLaren, G.D.; Harris, E.L.; Reiss, J.A.; Adams, P.C.; Speechley, M.; et al. Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population. Am. J. Hematol. 2008, 83, 618–626. [Google Scholar] [CrossRef] [Green Version]
  136. Adams, P.C.; Barton, J.C. How I treat hemochromatosis. Blood 2010, 116, 317–325. [Google Scholar] [CrossRef] [Green Version]
  137. McLaren, G.D.; Nathanson, M.H.; Jacobs, A.; Trevett, D.; Thomson, W. Regulation of intestinal iron absorption and mucosal iron kinetics in hereditary hemochromatosis. J. Lab. Clin. Med. 1991, 117, 390–401. [Google Scholar]
  138. El-Serag, H.B.; Inadomi, J.M.; Kowdley, K.V. Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann. Intern. Med. 2000, 132, 261–269. [Google Scholar] [CrossRef] [Green Version]
  139. Rocchi, E.; Gibertini, P.; Cassanelli, M.; Pietrangelo, A.; Borghi, A.; Ventura, E. Serum ferritin in the assessment of liver iron overload and iron removal therapy in porphyria cutanea tarda. J. Lab. Clin. Med. 1986, 107, 36–42. [Google Scholar]
  140. Ratnaike, S.; Blake, D.; Campbell, D.; Cowen, P.; Varigos, G. Plasma ferritin levels as a guide to the treatment of porphyria cutanea tarda by venesection. Australas J. Dermatol. 1988, 29, 3–8. [Google Scholar] [CrossRef]
  141. Franchini, M.; Targher, G.; Capra, F.; Montagnana, M.; Lippi, G. The effect of iron depletion on chronic hepatitis C virus infection. Hepatol. Int. 2008, 2, 335–340. [Google Scholar] [CrossRef] [Green Version]
  142. Facchini, F.S.; Hua, N.W.; Stoohs, R.A. Effect of iron depletion in carbohydrate-intolerant patients with clinical evidence of nonalcoholic fatty liver disease. Gastroenterology 2002, 122, 931–939. [Google Scholar] [CrossRef] [PubMed] [Green Version]
  143. Valenti, L.; Fracanzani, A.L.; Fargion, S. Effect of iron depletion in patients with nonalcoholic fatty liver disease without carbohydrate intolerance. Gastroenterology 2003, 124, 866. [Google Scholar] [CrossRef] [PubMed]
  144. Datz, C.; Felder, T.K.; Niederseer, D.; Aigner, E. Iron homeostasis in the metabolic syndrome. Eur. J. Clin. Investig. 2013, 43, 215–224. [Google Scholar] [CrossRef] [PubMed]
  145. Adams, L.A.; Crawford, D.H.; Stuart, K.; House, M.J.; Pierre, T.G.S.; Webb, M.; Ching, H.L.; Kava, J.; Bynevelt, M.; MacQuillan, G.C.; et al. The impact of phlebotomy in nonalcoholic fatty liver disease: A prospective, randomized, controlled trial. Hepatology 2015, 61, 1555–1564. [Google Scholar] [CrossRef] [PubMed]
  146. Olivieri, N.F. The beta-thalassemias. N. Engl. J. Med. 1999, 341, 99–109. [Google Scholar] [CrossRef]
  147. Pinto, V.M.; Forni, G.L. Management of iron overload in beta-thalassemia patients: Clinical practice update based on case series. Int. J. Mol. Sci. 2020, 21, 8771. [Google Scholar] [CrossRef]
  148. Brittenham, G.M.; Griffith, P.M.; Nienhuis, A.W.; McLaren, C.E.; Young, N.S.; Tucker, E.E.; Allen, C.J.; Farrell, D.E.; Harris, J.W. Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. N. Engl. J. Med. 1994, 331, 567–573. [Google Scholar] [CrossRef]
  149. Angelucci, E.; Li, J.; Greenberg, P.; Wu, D.; Hou, M.; Montano Figueroa, E.H.; Rodriguez, M.G.; Dong, X.; Ghosh, J.; Izquierdo, M.; et al. Iron chelation in transfusion-dependent patients with low- to intermediate-1-risk myelodysplastic syndromes: A randomized trial. Ann. Intern. Med. 2020, 172, 513–522. [Google Scholar] [CrossRef]
  150. Hankins, J.S.; McCarville, M.B.; Loeffler, R.B.; Smeltzer, M.P.; Onciu, M.; Hoffer, F.A.; Li, C.S.; Wang, W.C.; Ware, R.E.; Hillenbrand, C.M. R2* magnetic resonance imaging of the liver in patients with iron overload. Blood 2009, 113, 4853–4855. [Google Scholar] [CrossRef]
  151. Phatak, P.; Brissot, P.; Wurster, M.; Adams, P.C.; Bonkovsky, H.L.; Gross, J.; Malfertheiner, P.; McLaren, G.D.; Niederau, C.; Piperno, A.; et al. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology 2010, 52, 1671–1779. [Google Scholar] [CrossRef] [Green Version]
  152. Nielsen, P.; Fischer, R.; Buggisch, P.; Janka-Schaub, G. Effective treatment of hereditary haemochromatosis with desferrioxamine in selected cases. Br. J. Haematol. 2003, 123, 952–953. [Google Scholar] [CrossRef]
  153. Barton, J.C. Chelation therapy for iron overload. Curr. Gastroenterol. Rep. 2007, 9, 74–82. [Google Scholar] [CrossRef]
  154. Sandnes M, Ulvik RJ, Vorland M, Reikvam H. Hyperferritinemia—A Clinical Overview. Journal of Clinical Medicine. 2021; 10(9):2008. https://doi.org/10.3390/jcm10092008

Tải về tài liệu chính .....(xem tiếp)

  • Tham khảo
  • Giới thiệu
  • Dịch tễ
  • Nguyên nhân
  • Tiếp cận chẩn đoán
  • Theo dõi điều trị
  • space
    Tài liệu đào tạo liên tục
    1-hình 1
    Đặt vấn đề

    Quản lý phòng khám ngoại chẩn.....(xem tiếp)

    1-hình 1
    Tình huống lâm sàng 2

    ICPC.....(xem tiếp)

    1-hình 1
    Hậu quả của té ngã ở người lớn tuổi

    ICPC.....(xem tiếp)

    Kiến thức nhanh
    Bệnh lý lành tính tuyến vú
    Nhồi máu não
    Tham khảo
    

    Phụ trách admin BS Trần Cao Thịnh Phước (phuoctct@pnt.edu.vn)

    Phụ trách chuyên môn TS Võ Thành Liêm (thanhliem.vo@gmail.com)

    space