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Chapter 29 - Iron storage disorders

from Section IV - Metabolic liver disease

Published online by Cambridge University Press:  05 March 2014

Michael R. Narkewicz
Affiliation:
Section of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA
Peter F. Whittington
Affiliation:
Northwestern University Feinberg School of Medicine, Siragusa Transplantation Center, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
William F. Balistreri
Affiliation:
University of Cincinnati College of Medicine
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Publisher: Cambridge University Press
Print publication year: 2014

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References

Pietrangelo, A, Caleffi, A, Corradini, E.Non-HFE hepatic iron overload. Semin Liver Dis 2011;31:302–318.CrossRefGoogle ScholarPubMed
Evstatiev, R, Gasche, C.Iron sensing and signalling. Gut 2012;61:933–952.CrossRefGoogle ScholarPubMed
Donovan, A, Lima, CA, Pinkus, JL, et al. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab 2005;1:191–200.CrossRefGoogle ScholarPubMed
Vaulont, S, Lou, DQ, Viatte, L, Kahn, A.Of mice and men: the iron age. J Clin Invest 2005;115:2079–2082.CrossRefGoogle ScholarPubMed
De Domenico, I, Ward, DM, Kaplan, J.Hepcidin and ferroportin: the new players in iron metabolism. Semin Liver Dis 2011;31:272–279.CrossRefGoogle ScholarPubMed
Pietrangelo, A.Hepcidin in human iron disorders: therapeutic implications. J Hepatol 2011;54:173–181.CrossRefGoogle ScholarPubMed
Huang, FW, Pinkus, JL, Pinkus, GS, Fleming, MD, Andrews, NC.A mouse model of juvenile hemochromatosis. J Clin Invest 2005;115:2187–2191.CrossRefGoogle ScholarPubMed
Feder, JN, Gnirke, A, Thomas, W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399–408.CrossRefGoogle ScholarPubMed
Babitt, JL, Lin, HY.The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis 2011;31:280–292.CrossRefGoogle ScholarPubMed
Phatak, PD, Sham, RL, Raubertas, RF, et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med 1998;129:954–961.CrossRefGoogle ScholarPubMed
Olynyk, JK, Cullen, DJ, Aquilia, S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718–724.CrossRefGoogle ScholarPubMed
Edwards, CQ, Griffen, LM, Goldgar, D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355–1362.CrossRefGoogle ScholarPubMed
Ramrakhiani, S, Bacon, R.Hemochromatosis: advances in molecular genetics and clinical diagnosis. J Clin Gastroenterol 1998;27:41–46.CrossRefGoogle ScholarPubMed
Pietrangelo, A.Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010;139:393–408, e1–2.CrossRefGoogle Scholar
Pietrangelo, A.Juvenile hemochromatosis. J Hepatol 2006;45:892–894.CrossRefGoogle ScholarPubMed
Adams, PC, Kertesz, AE, Valberg, LS.Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology 1995;22:1720–1727.Google ScholarPubMed
Grove, J, Daly, AK, Burt, AD, et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 1998;43:262–266.CrossRefGoogle ScholarPubMed
Bonkovsky, HL, Jawaid, Q, Tortorelli, K, et al. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol 1999;31:421–429.CrossRefGoogle ScholarPubMed
Kowdley, KV, Trainer, TD, Saltzman, JR, et al. Utility of hepatic iron index in American patients with hereditary hemochromatosis: a multicenter study. Gastroenterology 1997;113:1270–1277.CrossRefGoogle ScholarPubMed
Martin, DR, Semelka, RC.Magnetic resonance imaging of the liver: review of techniques and approach to common diseases. Semin Ultrasound CT MR 2005;26:116–131.CrossRefGoogle ScholarPubMed
Adams, PC.Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet 1998;53:176–178.CrossRefGoogle ScholarPubMed
Guyader, D, Jacquelinet, C, Moirand, R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929–936.CrossRefGoogle ScholarPubMed
Whitlock, EP, Garlitz, BA, Harris, EL, Beil, TL, Smith, PR.Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann Intern Med 2006;145:209–223.CrossRefGoogle Scholar
Niederau, C, Erhardt, A, Haussinger, D, et al. Haemochromatosis and the liver. J Hepatol 1999;30(Suppl 1):6–11.Google ScholarPubMed
EASL. Clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53:3–22.CrossRefGoogle Scholar
Gehrke, SG, Pietrangelo, A, Kascak, M, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet 2005;67:425–428.CrossRefGoogle ScholarPubMed
Wolfe, L, Olivieri, N, Sallan, D, et al. Prevention of cardiac disease by subcutaneous deferoxamine in patients with thalassemia major. N Engl J Med 1985;312:1600–1603.CrossRefGoogle ScholarPubMed
Nielsen, P, Fischer, R, Engelhardt, R, et al. Liver iron stores in patients with secondary haemosiderosis under iron chelation therapy with deferoxamine or deferiprone. Br J Haematol 1995;91:827–833.CrossRefGoogle ScholarPubMed
Carneiro, AA, Fernandes, JP, de Araujo, DB, et al. Liver iron concentration evaluated by two magnetic methods: magnetic resonance imaging and magnetic susceptometry. Magn Reson Med 2005;54:122–128.CrossRefGoogle ScholarPubMed
Brittenham, GM, Griffith, PM, Nienhuis, AW, et al. Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. N Engl J Med 1994;331:567–573.CrossRefGoogle ScholarPubMed
Cabibbo, S, Fidone, C, Garozzo, G, et al. Chronic red blood cell exchange to prevent clinical complications in sickle cell disease. Transfus Apher Sci 2005;32:315–321.CrossRefGoogle ScholarPubMed
Piga, A, Roggero, S, Vinciguerra, T, et al. Deferiprone: new insight. Ann N Y Acad Sci 2005;1054:169–174.CrossRefGoogle ScholarPubMed
Cappellini, MD, Musallam, KM, Taher, AT.Overview of iron chelation therapy with desferrioxamine and deferiprone. Hemoglobin 2009;33(Suppl 1):S58–S69.CrossRefGoogle ScholarPubMed
Knisely, AS, Mieli-Vergani, G, Whitington, PF.Neonatal hemochromatosis. Gastroenterol Clin North Am 2003;32:877–89, vi–vii.CrossRefGoogle ScholarPubMed
Kelly, AL, Lunt, PW, Rodrigues, F, et al. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 2001;38:599–610.CrossRefGoogle ScholarPubMed
Whitington, PF, Kelly, S.Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics 2008;121:e1615–e1621.CrossRefGoogle ScholarPubMed
Whitington, PF.Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin Liver Dis 2007;27:243–250.CrossRefGoogle ScholarPubMed
Pan, X, Kelly, S, Melin-Aldana, H, Malladi, P, Whitington, PF.Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology 2010;51:2061–2068.CrossRefGoogle ScholarPubMed
Hoftman, AC, Hernandez, MI, Lee, KW, Stiehm, ER.Newborn illnesses caused by transplacental antibodies. Adv Pediatr 2008;55:271–304.CrossRefGoogle ScholarPubMed
Bonilla, SF, Melin-Aldana, H, Whitington, PF.Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. Pediatr Res 2010;67:188–193.CrossRefGoogle ScholarPubMed
Whitington, PF, Pan, X, Kelly, S, Melin-Aldana, H, Malladi, P.Gestational alloimmune liver disease in cases of fetal death. J Pediatr 2011;159:612–616.CrossRefGoogle ScholarPubMed
Silver, MM, Beverley, DW, Valberg, LS, et al. Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies. Am J Pathol 1987;128:538–554.Google ScholarPubMed
Ekong, UD, Kelly, S, Whitington, PF.Disparate clinical presentation of neonatal hemochromatosis in twins. Pediatrics 2005;116:e880–e884.CrossRefGoogle ScholarPubMed
Knisely, AS, O'Shea, PA, Stocks, JF, Dimmick, JE.Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. J Pediatr 1988;113:871–874.CrossRefGoogle ScholarPubMed
Udell, IW, Barshes, NR, Voloyiannis, T, et al. Neonatal hemochromatosis: radiographical and histological signs. Liver Transplant 2005;11:998–1000.CrossRefGoogle ScholarPubMed
Leonis, MA, Balistreri, WF.Neonatal hemochromatosis: it's OK to say “NO” to antioxidant-chelator therapy. Liver Transplant 2005;11:1323–1325.CrossRefGoogle Scholar
Rand, EB, Karpen, SJ, Kelly, S, et al. Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. J Pediatr 2009;155:566–571.CrossRefGoogle ScholarPubMed
Ekong, UD, Melin-Aldana, H, Whitington, PF.Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. J Pediatr Gastroenterol Nutr 2008;46:329–333.CrossRefGoogle ScholarPubMed
Grabhorn, E, Richter, A, Burdelski, M, Rogiers, X, Ganschow, R.Neonatal hemochromatosis: long-term experience with favorable outcome. Pediatrics 2006;118:2060–2065.CrossRefGoogle ScholarPubMed
Rodrigues, F, Kallas, M, Nash, R, et al. Neonatal hemochromatosis: medical treatment vs. transplantation: the king's experience. Liver Transplant 2005;11:1417–1424.CrossRefGoogle ScholarPubMed
Sundaram, SS, Alonso, EM, Whitington, PF.Liver transplantation in neonates. Liver Transplant 2003;9:783–788.CrossRefGoogle ScholarPubMed

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  • Iron storage disorders
    • By Michael R. Narkewicz, Section of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA, Peter F. Whittington, Northwestern University Feinberg School of Medicine, Siragusa Transplantation Center, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.030
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  • Iron storage disorders
    • By Michael R. Narkewicz, Section of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA, Peter F. Whittington, Northwestern University Feinberg School of Medicine, Siragusa Transplantation Center, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.030
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Iron storage disorders
    • By Michael R. Narkewicz, Section of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA, Peter F. Whittington, Northwestern University Feinberg School of Medicine, Siragusa Transplantation Center, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.030
Available formats
×