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 language | Hungarian |
|---|---|
| Pages (from-to) | 1156-1164 |
| Number of pages | 9 |
| Journal | Orvosi Hetilap |
| Volume | 154 |
| Issue number | 29 |
| DOIs | |
| Publication status | Published - júl. 1 2013 |
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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
}
TY - JOUR
T1 - Haemochromatosis - mint a vastúlterheléssel járó betegségek egyik formája
AU - Szalay, F.
PY - 2013/7/1
Y1 - 2013/7/1
N2 - 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.
AB - 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.
KW - ferroportin
KW - haemochromatosis
KW - hemochromatosis
KW - hepcidin
KW - hereditary hemochromatosis
KW - herediter haemochromatosis
KW - iron-overload diseases
KW - juvenilis haemochromatosis
KW - neonatal hemochromatosis
KW - vastúlterhelés
UR - http://www.scopus.com/inward/record.url?scp=84880407518&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84880407518&partnerID=8YFLogxK
U2 - 10.1556/OH.2013.29668
DO - 10.1556/OH.2013.29668
M3 - Article
C2 - 23853349
AN - SCOPUS:84880407518
VL - 154
SP - 1156
EP - 1164
JO - Orvosi Hetilap
JF - Orvosi Hetilap
SN - 0030-6002
IS - 29
ER -