{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T23:14:33Z","timestamp":1648595673221},"reference-count":43,"publisher":"Akademiai Kiado Zrt.","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,6,1]]},"abstract":"<jats:p>A Fabry-k\u00f3r X-kromosz\u00f3m\u00e1hoz k\u00f6t\u00f6tt \u00f6r\u00f6kl\u0151d\u00e9smenet\u0171, t\u00f6bb szervet \u00e9rint\u0151, ritka, lysosomalis t\u00e1rol\u00e1si betegs\u00e9g, amelyet a GAL g\u00e9n mut\u00e1ci\u00f3ja, az \u03b1-galaktozid\u00e1z A-enzim el\u00e9gtelen m\u0171k\u00f6d\u00e9se okoz. Az enzimhi\u00e1ny k\u00f6vetkezt\u00e9ben lipid lebont\u00e1si term\u00e9kek (glikoszfingolipidek) halmoz\u00f3dnak fel a kiserek endothel sejtjeiben, a simaizomsejtekben, a leukocyt\u00e1kban, \u00e9s a fibroblastokban. A betegs\u00e9get a b\u0151r\u00f6n, a szemben, az idegrendszerben, a ves\u00e9ben \u00e9s a sz\u00edvben soksz\u00edn\u0171 szervi elt\u00e9r\u00e9sek jellemzik. A Fabry-k\u00f3r leggyakoribb klinikai megjelen\u00e9si form\u00e1i az acroparesthesia, az angiokeratoma, a corneahom\u00e1ly, valamint k\u00fcl\u00f6nf\u00e9le cardialis, renalis \u00e9s cerebrovascularis megbeteged\u00e9sek. A 2003 \u00f3ta Magyarorsz\u00e1gon is el\u00e9rhet\u0151 enzimp\u00f3tl\u00f3 kezel\u00e9ssel a betegs\u00e9g progresszi\u00f3ja lass\u00edthat\u00f3. A szerz\u0151k k\u00f6zlem\u00e9ny\u00fckben 31 beteg f\u00e9rfi \u00e9s hordoz\u00f3 n\u0151 klinikai adatait foglalj\u00e1k \u00f6ssze. A 31 f\u0151b\u0151l 15 f\u00e9rfi, 16 n\u0151, az elhunytak sz\u00e1ma 5 f\u0151 (4 f\u00e9rfi, 1 n\u0151). A n\u0151k egynegyede t\u00fcnetmentes. A 7 gondozott csal\u00e1d mindegyik\u00e9ben siker\u00fclt azonos\u00edtani a betegs\u00e9gokoz\u00f3 mut\u00e1ci\u00f3t; 3 csal\u00e1dban \u00faj mut\u00e1ci\u00f3 igazol\u00f3dott. Enzimp\u00f3tl\u00f3 kezel\u00e9sben 12 beteg r\u00e9szes\u00fcl, k\u00f6z\u00fcl\u00fck 8 f\u00e9rfi, 4 n\u0151.<\/jats:p>","DOI":"10.1556\/oh.2007.28086","type":"journal-article","created":{"date-parts":[[2007,6,5]],"date-time":"2007-06-05T20:57:35Z","timestamp":1181077055000},"page":"1087-1094","source":"Crossref","is-referenced-by-count":1,"title":["Molecular pathology and clinical manifestations of Fabry disease"],"prefix":"10.1556","volume":"148","author":[{"given":"\u00c9va","family":"R\u00e1k\u00f3czi","sequence":"first","affiliation":[{"name":"1 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Infektol\u00f3giai \u00e9s Gyermekimmunol\u00f3giai Tansz\u00e9k Debrecen Nagyerdei krt. 98. 4012"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e1ndor","family":"G\u00f6r\u00f6gh","sequence":"additional","affiliation":[{"name":"2 Fels\u0151szabolcsi K\u00f3rh\u00e1z Nefrol\u00f3giai Oszt\u00e1ly Kisv\u00e1rda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos","family":"Grubits","sequence":"additional","affiliation":[{"name":"3 Erzs\u00e9bet K\u00f3rh\u00e1z Neurol\u00f3giai Oszt\u00e1ly Sopron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Erd\u0151s","sequence":"additional","affiliation":[{"name":"1 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Infektol\u00f3giai \u00e9s Gyermekimmunol\u00f3giai Tansz\u00e9k Debrecen Nagyerdei krt. 98. 4012"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferenc","family":"Garzuly","sequence":"additional","affiliation":[{"name":"4 Markusovszky K\u00f3rh\u00e1z Patol\u00f3giai \u00e9s Neurol\u00f3giai Oszt\u00e1ly Szombathely"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Hahn","sequence":"additional","affiliation":[{"name":"5 Markusovszky K\u00f3rh\u00e1z Patol\u00f3giai \u00e9s Neurol\u00f3giai Oszt\u00e1ly Szombathely"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"Bencsik","sequence":"additional","affiliation":[{"name":"6 Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika Szeged"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e1szl\u00f3","family":"V\u00e9csei","sequence":"additional","affiliation":[{"name":"6 Szegedi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Neurol\u00f3giai Klinika Szeged"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Csilla","family":"Trinn","sequence":"additional","affiliation":[{"name":"7 Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum I. 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