Pathogenesis of genetic haemochromatosis.
Eur J Clin Invest
; 23(6): 321-9, 1993 Jun.
Article
en En
| MEDLINE
| ID: mdl-8344331
Genetic haemochromatosis is an autosomal recessive inherited iron overload disease. The genetic defect and the underlying metabolic error are not known. Several observations indicate that the 2-4-fold increase of iron absorption is due to a regulatory defect of a membrane iron transport system in duodenal mucosal cells. The key pathophysiologic factor may be the increase of gut-derived non-transferrin bound iron liganded to low-molecular mass organic molecules. A putative membrane carrier protein for non-transferrin bound iron was identified and preliminary data suggest its enrichment in plasma membranes of human mucosal cells as well as in liver and other organs which are affected in genetic haemochromatosis. Cellular accumulation of ionic iron leads to peroxidative decomposition of organelle membrane phospholipids with the consequence of cell degeneration and cell death. Impairment of organ function and structural alterations such as cirrhosis of the liver are clinical manifestations.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemocromatosis
/
Hierro
/
Metaloproteínas
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Eur J Clin Invest
Año:
1993
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Reino Unido