[Hereditary hemochromatosis: the most frequent inherited human disease].
Hereditary hemochromatosis is now recognized as a very common inherited disease of the Caucasian population. It is defined as a disorder of unique clinicopathology caused by mutations of genes that control iron metabolism. Inappropriately increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress in tissues. This results in significant cellular damage, induction of inflammation, and fibrosis. Liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiac insufficiency are diagnosed in the advanced phase of this disease. The natural course is modified by environmental factors and personal predisposition. Three forms of hemochromatosis with the pathophysiology of iron overload are described. Among them the classical form, juvenile hemochromatosis with severe course and circulatory insufficiency, and ferroportin disease are presented. Properly directed diagnostics makes early treatment protecting against disease progression and multiorgan insufficiency possible.
Sikorska
Katarzyna
K
Klinika Chorób Zakaźnych Akademii Medycznej w Gdańsku.
Bielawski
Krzysztof Piotr
KP
Romanowski
Tomasz
T
Stalke
Piotr
P
D002877:Chromosomes, Human / Q000235:genetics; D005192:Family Health; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics; D044465:White People / Q000235:genetics*
D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron