Haemochromatosis - mint a vastúlterheléssel járó betegségek egyik formája

Research output: Article

2 Citations (Scopus)

Abstract

Iron-overload diseases are typically insidious, causing progressive and irreversible organ injury before clinical symptoms develop. Some iron-overload diseases as HFE-associated hemochromatosis and beta-thalassemia are quite common, whereas others are very rare. Early diagnosis is important since iron toxicity can be attenuated or prevented. Significant progress of our knowledge on iron metabolism developed in the past years. We learned a lot about HFE gene mutations, function of ferroportin and hepcidin, the hypoferremia hormone produced by the liver. However, many questions are still open. Special forms of localized iron overload are the Hallervorden-Spatz syndrome and pantothenate kinase gene mutation associated neurodegeneration causing progressive extrapyramidal movement disorders. Neonatal hemochromatosis is a severe systemic iron-overload disorder due to gestational alloimmune liver disease caused by transplacental maternal IgG directed against the fetal liver. This review article gives an overview on iron metabolism and iron-overload disease. Pathomechanism, diagnosis and treatment of hereditary hemochromatosis are discussed. Orv. Hetil., 2013, 154, 1156-1164.

Original languageHungarian
Pages (from-to)1156-1164
Number of pages9
JournalOrvosi Hetilap
Volume154
Issue number29
DOIs
Publication statusPublished - júl. 1 2013

Fingerprint

Iron Overload
Hemochromatosis
Iron
Pantothenate Kinase-Associated Neurodegeneration
Basal Ganglia Diseases
Hepcidins
Mutation
Liver
beta-Thalassemia
Movement Disorders
Genes
Liver Diseases
Early Diagnosis
Immunoglobulin G
Mothers
Hormones
Wounds and Injuries

Keywords

  • ferroportin
  • haemochromatosis
  • hemochromatosis
  • hepcidin
  • hereditary hemochromatosis
  • herediter haemochromatosis
  • iron-overload diseases
  • juvenilis haemochromatosis
  • neonatal hemochromatosis
  • vastúlterhelés

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Haemochromatosis - mint a vastúlterheléssel járó betegségek egyik formája. / Szalay, F.

In: Orvosi Hetilap, Vol. 154, No. 29, 01.07.2013, p. 1156-1164.

Research output: Article

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