34 KB111 KB30 KB192920262006Vujkovac, Bojanštevilka:127 straniletnik:75str. 769-775ISSN:1318-0347COBISSID:22404313URN:URN:NBN:SI:doc-MFVVHG9KslSlovensko zdravniško društvoZdravniški vestnikdedne bolezniDiagnosisdiagnostikaFabryjeva bolezenFabry's DiseasePractice GuidelinesPraktična navodilaTherapyzdravljenjePriporočila za odkrivanje in zdravljenje Fabryjeve bolezni v Sloveniji| Recommendation for diagnosis and treatment of Fabry's disease in Slovenia|Background Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme agalactosidase A is lowered or absent and sphingolipids care deposited in different organ cells. All males with gene mutation are affected but females too, due to X chromosome inactivation, can frequently be affected as well, although usually to a lesser extend. Disease is slowly progressive and there is an early dysfunction of several organs, specially endothelium, kidney, heart and central nervous system, which all leads to early death of the patient. Conclusions Recently, a specific enzyme replacement therapy, based on recombinant technology, was discovered. Specific therapy is effective and safe. Due to a new therapy there was a need to set objective criteria when to start with enzyme replacement therapy, but also a need to more complex, multidisciplinary approach to those patients. This article is an initial proposal for systematic management of Fabry diseasein our countryIzhodišča Fabryjeva bolezen je redka, na kromosom X vezana dedna bolezen. Zaradi mutacije gena je zmanjšana aktivnost alfa galaktozidaze A in posledično prihaja do kopičenja sfingolipidov v celicah različnih organov. Obolevajo vsi moški, ki imajo gensko okvaro. Ženske niso samo prenašalke bolezni, temveč so pogosto bolezensko prizadeze zaradi inaktivacije kromosoma X. Bolezen postopoma napreduje in povzroči zgodnjo prizadetost predvsem ožilja, ledvic, srca in centralnega živčnega sistema. Posledica je zgodnja umrljivost teh bolnikov. Zaključki Pred nekaj leti je bilo odkrito nadomestno encimsko zdravilo, pridobljeno z rekombinantno tehnologijo. Zdravilo se je izkazalo za učinkovito in varno. Z uvedbo specifičnega zdravjenja se je pojavila potreba po objektivnih kriterijih za uvedbo takšnega načina zdravljenja in do celovite obravnave teh bolnikov sploh. Prispevek je prvi poskus predloga za enotno obravnavo bolnikov s Fabryjevo boleznijo v naši državiTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo