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27 - Iron Storage Disorders

from SECTION IV - METABOLIC LIVER DISEASE

Published online by Cambridge University Press:  18 December 2009

By
Alex S. Knisely M.D.  and
Michael R. Narkewicz M.D.
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Alex S. Knisely M.D.
Affiliation:
Professor of Pathology, Institute of Liver Studies, King's College Hospital, London, England
Michael R. Narkewicz M.D.
Affiliation:
Professor of Pediatrics, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Colorado School of Medicine, Denver, Colorado; Medical Director, Pediatric Liver Center, Children's Hospital, Denver, Colorado
Frederick J. Suchy
Affiliation:
Mount Sinai School of Medicine, New York
Ronald J. Sokol
Affiliation:
University of Colorado, Denver
William F. Balistreri
Affiliation:
University of Cincinnati
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Summary

IRON OVERLOAD DISORDERS

Hereditary Hemochromatosis (OMIM 235200)

Iron overload states can be classified as primary or secondary. There are many disorders that can lead to iron overload (Table 27.1). This chapter focuses on hereditary hemochromatosis (HHC), juvenile hemochromatosis (JHC), and secondary iron overload (primarily transfusion associated) in the pediatric patient and on neonatal hemochromatosis. For a discussion of the rarer entities, the reader is referred to several recent reviews [1, 2].

Physiology and Pathophysiology of Iron Overload

Iron is one of the more tightly regulated nutrients in the body. Humans have no significant excretory pathway for iron. Thus, body iron stores are normally controlled at the level of absorption, matching absorption to physiologic requirements. Under normal circumstances, only about 1 mg of elemental iron is absorbed per day (Figure 27.1), in balance with gastrointestinal losses. Intestinal iron absorption is increased by low body iron stores (storage regulation) [3], increased erythropoiesis (erythropoietic regulation) [3], anemias associated with ineffective erythropoiesis (thalassemias, congenital dyserythropoietic anemias, and sideroblastic anemia), and acute hypoxia. Both dietary iron intake (dietary regulation) and systemic inflammation can temporarily decrease iron absorption and availability, even in the presence of iron deficiency [4–6].

Duodenal crypt cells sense body iron status and are programmed for iron absorption as they mature. Duodenal and proximal jejunal enterocytes are responsible for iron absorption. Low gastric pH helps dissolve iron, which is then enzymatically reduced to the ferrous form by ferrireductase [7].

Type
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Liver Disease in Children , pp. 661 - 676
Publisher: Cambridge University Press
Print publication year: 2007

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  • Iron Storage Disorders
    • By Alex S. Knisely, M.D., Professor of Pathology, Institute of Liver Studies, King's College Hospital, London, England, Michael R. Narkewicz, M.D., Professor of Pediatrics, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Colorado School of Medicine, Denver, Colorado; Medical Director, Pediatric Liver Center, Children's Hospital, Denver, Colorado
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.029
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  • Iron Storage Disorders
    • By Alex S. Knisely, M.D., Professor of Pathology, Institute of Liver Studies, King's College Hospital, London, England, Michael R. Narkewicz, M.D., Professor of Pediatrics, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Colorado School of Medicine, Denver, Colorado; Medical Director, Pediatric Liver Center, Children's Hospital, Denver, Colorado
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.029
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 Alex S. Knisely, M.D., Professor of Pathology, Institute of Liver Studies, King's College Hospital, London, England, Michael R. Narkewicz, M.D., Professor of Pediatrics, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, University of Colorado School of Medicine, Denver, Colorado; Medical Director, Pediatric Liver Center, Children's Hospital, Denver, Colorado
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.029
Available formats
×