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  • 1 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4012
  • 2 Felsőszabolcsi Kórház Nefrológiai Osztály Kisvárda
  • 3 Erzsébet Kórház Neurológiai Osztály Sopron
  • 4 Markusovszky Kórház Patológiai és Neurológiai Osztály Szombathely
  • 5 Markusovszky Kórház Patológiai és Neurológiai Osztály Szombathely
  • 6 Szegedi Tudományegyetem, Általános Orvostudományi Kar Neurológiai Klinika Szeged
  • 7 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum I. Belgyógyászati Klinika Debrecen
  • 8 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Kardiológiai Klinika Debrecen
  • 9 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Gyermekgyógyászati Klinika Debrecen
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A Fabry-kór X-kromoszómához kötött öröklődésmenetű, több szervet érintő, ritka, lysosomalis tárolási betegség, amelyet a GAL gén mutációja, az α-galaktozidáz A-enzim elégtelen működése okoz. Az enzimhiány következtében lipid lebontási termékek (glikoszfingolipidek) halmozódnak fel a kiserek endothel sejtjeiben, a simaizomsejtekben, a leukocytákban, és a fibroblastokban. A betegséget a bőrön, a szemben, az idegrendszerben, a vesében és a szívben sokszínű szervi eltérések jellemzik. A Fabry-kór leggyakoribb klinikai megjelenési formái az acroparesthesia, az angiokeratoma, a corneahomály, valamint különféle cardialis, renalis és cerebrovascularis megbetegedések. A 2003 óta Magyarországon is elérhető enzimpótló kezeléssel a betegség progressziója lassítható. A szerzők közleményükben 31 beteg férfi és hordozó nő klinikai adatait foglalják össze. A 31 főből 15 férfi, 16 nő, az elhunytak száma 5 fő (4 férfi, 1 nő). A nők egynegyede tünetmentes. A 7 gondozott család mindegyikében sikerült azonosítani a betegségokozó mutációt; 3 családban új mutáció igazolódott. Enzimpótló kezelésben 12 beteg részesül, közülük 8 férfi, 4 nő.

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