Porfīrija ir ģenētisku slimību grupa, kam raksturīgs hēma biosintēzē iesaistītu enzīmu deficīts, kā rezultātā organismā uzkrājas hēma biosintēzes starpprodukti. Enzīmu deficīts ir iedzimts, bet dažādi ārējās vides faktori – medikamenti, ķīmiskas vielas, diētas faktori, saules gaisma – atkarībā no porfīrijas tipa būtiski ietekmē slimības smaguma pakāpi un gaitu.
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Klīniskā aina (līdzīgi kā ārstēšana) dažādiem porfīrijas tipiem ir atšķirīga, tomēr visbiežāk tiek skarta āda un nervu sistēma. Akūtas porfīrijas diagnoze bieži vien ir novēlota, jo simptomi ir nespecifiski.
Vairāk informācijas par porfīriju atradīsiet:- EpNet- European Porphyria Network: http://www.porphyria-europe.com/
- Medikamentu saraksts, kas var provocēt akūtas
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porfīrijas lēkmi: http://www.porphyria-europe.com/03-drugs/selecting-drug-unsafe.asp
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Porphyria Foundation: http://www.porphyriafoundation.com/
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