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  • 1 Semmelweis Egyetem, Általános Orvostudományi Kar II. Gyermekgyógyászati Klinika Budapest Tűzoltó u. 7–9. 1094
  • 2 Semmelweis Egyetem, Általános Orvostudományi Kar I. Belgyógyászati Klinika Budapest
  • 3 Semmelweis Egyetem, Általános Orvostudományi Kar Neurológiai Klinika Budapest
  • 4 Semmelweis Egyetem, Általános Orvostudományi Kar Pulmonológiai Klinika Budapest
  • 5 Semmelweis Egyetem, Általános Orvostudományi Kar Bőrgyógyászati Klinika Budapest
  • 6 Semmelweis Egyetem, Általános Orvostudományi Kar Szemészeti Klinika Budapest
  • 7 Debreceni Egyetem, OEC Infektológiai és Gyermekimmunológiai Tanszék Debrecen
  • 8 Debreceni Egyetem, OEC Kardiológiai Klinika Debrecen
  • 9 Debreceni Egyetem, OEC Neurológiai Klinika Debrecen
  • 10 Gottsegen György Országos Kardiológiai Intézet Budapest
  • 11 Semmelweis Egyetem, Tudásközpont MR Labor Budapest
Open access

A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben. A betegség első tünetei többnyire gyermekkorban jelentkeznek, a progresszió során a betegek súlyos szervi károsodásokkal és korai halálozással számolhatnak. Elsősorban fiúk és férfiak érintettek, azonban a betegség tüneteit heterozigóta nők esetében is megfigyelhetjük, de náluk a kórkép súlyossága változó, általában enyhébb lefolyású. Az enzimpótló kezelések megjelenése szükségessé tette, hogy részletes diagnosztikus és terápiás protokollt dolgozzunk ki. A jelen dolgozatban megjelenő ajánlásokat egy, a magyarországi Fabry-betegek kezelésében aktívan részt vevő orvosokból, a diagnosztika területén dolgozó biológosukból és egyéb szakemberekből álló multidiszciplináris munkacsoport foglalta össze. A munkacsoport áttekintette a korábbi klinikai tanulmányokat, a publikált vizsgálatokat és a közelmúltban megjelent nemzetközi és nemzeti útmutatókat.

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