K otázkám etiopatogeneze a mechanismů terapiepozdní kožní porfyrie

On the Problems of the Etiopathogenesis and the Mechanisms of TreatingPorphyria Cutanea Tarda

Porphyria cutanea tarda appears in its familial form with an autosomal dominant transmissionof the defect of uroporphyrinogen decarboxylase in all tissues of the body, or in its sporadic formwith the defect in the liver only, in our population with a prevalence of 1:15.000. Etiologically thereparticipate in its appearance the iron overload (often caused by a mutation of the HFE gene ofhereditary hemochromatosis), chronic alcohol intoxication, long-term estrogen therapy, and hepatitisC infection. Reliable treatments are serial phlebotomies and oral therapy with low doses ofquinoline antimalarial drugs, or the combination of both.The report speaks of factors and conditions for the appearance of the disorder and of themechanisms of the therapeutic action of both the treatments. It also presents a draft of a rationalscheme for the optimal therapy of PCT.

Key words:
porphyria cutanea tarda – iron overload – uroporphyrinogen decarboxylase – HFE genemutation – hepatitis C – alcohol – estrogens – venepuncture – antimalarial drugs