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PRACA PRZEGLĄDOWA
Częstość występowania i związek poznanych mutacji w genach HFE z fenotypami wybranych chorób reumatycznych
 
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Data publikacji online: 28-12-2011
 
 
Reumatologia 2011;49(6):432-438
 
SŁOWA KLUCZOWE
STRESZCZENIE
Mutacje w genach niektórych białek związanych z metabolizmem żelaza są odpowiedzialne za rozwój różnych postaci wrodzonej hemochromatozy (hereditary haemochromatosis – HH). Od kilku lat trwają badania dotyczące ich związku z występowaniem i przebiegiem chorób tkanki łącznej (w tym głównie związku z chorobą zwyrodnieniową i z reumatoidalnym zapaleniem stawów). Nadal toczy się dyskusja na temat tego, czy istnieje związek etiologiczny między tymi schorzeniami. W niniejszej pracy przedstawiono krótki opis obecnego stanu wiedzy na temat etiologii HH, a także przegląd prac dotyczących związku HH i jej wpływu na fenotyp wybranych chorób reumatycznych (tab. I).
 
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