{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:33:20Z","timestamp":1789760000766,"version":"4.0.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"3-4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggyogy Sz"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>C\u00e9lkit\u0171z\u00e9s \u2013 A spinalis izomatrophia (SMA) az als\u00f3 motoneuronok pusztul\u00e1s\u00e1val j\u00e1r\u00f3 progressz\u00edv, auto\u00adszom\u00e1lis recessz\u00edv betegs\u00e9g. Az elm\u00falt \u00e9vekben fordulat k\u00f6vetkezett be az SMA oki kezel\u00e9s\u00e9ben, k\u00e9t SMN2 splicing m\u00f3dos\u00edt\u00f3 \u00e9s egy g\u00e9nter\u00e1pi\u00e1s gy\u00f3gyszer v\u00e1lt el\u00e9rhet\u0151v\u00e9. K\u00e9rd\u00e9sfelvet\u00e9s \u2013 Az \u00faj gy\u00f3gyszerek az SMA gyermekkori lefoly\u00e1s\u00e1t \u00e9rdemben m\u00f3dos\u00edtj\u00e1k, \u00e9s egyes gy\u00f3gyszerek feln\u0151ttkori hat\u00e1s\u00e1r\u00f3l is egyre t\u00f6bb adat \u00e9rhet\u0151 el. Nem \u00e1ll azonban rendelkez\u00e9sre olyan szakirodalom, ami a leg\u00fajabb eredm\u00e9nyek alapj\u00e1n seg\u00edts\u00e9get ny\u00fajtana a feln\u0151tt SMA-betegek kezel\u00e9s\u00e9hez sz\u00fcks\u00e9ges d\u00f6nt\u00e9sek meghozatal\u00e1ban. A Magyar Klinikai Neurogenetikai T\u00e1rsas\u00e1g vezet\u0151s\u00e9ge \u00e1ttekintette az SMA palliat\u00edv kezel\u00e9s\u00e9nek ir\u00e1nyelveit, a randomiz\u00e1lt, kontroll\u00e1lt gy\u00f3gyszervizsg\u00e1latokat, a feln\u0151tt SMA-betegek retrospekt\u00edv \u00e9s prospekt\u00edv gy\u00f3gyszeres vizsg\u00e1latainak eredm\u00e9nyeit. A vizsg\u00e1lat alanyai \u2013 A konszenzusaj\u00e1nl\u00e1s megalkot\u00e1sa szempontj\u00e1b\u00f3l azokat a k\u00f6zlem\u00e9nyeket \u00e9rt\u00e9kelt\u00fck, amelyek a feln\u0151ttkort el\u00e9r\u0151, f\u0151k\u00e9nt SMA II- \u00e9s III-csoportba tartoz\u00f3 betegek gy\u00f3gyszeres kezel\u00e9s\u00e9nek eredm\u00e9nyeir\u0151l szolg\u00e1ltatnak adatokat. A konszenzusaj\u00e1nl\u00e1st a feln\u0151tt SMA-betegek kezel\u00e9s\u00e9r\u0151l kilenc pontban fogalmaztuk meg, ami kit\u00e9r a gy\u00f3gyszeres kezel\u00e9s technikai, szakmai felt\u00e9teleire, biztons\u00e1goss\u00e1gi szempontjaira, a betegek kiv\u00e1laszt\u00e1s\u00e1ra, \u00e9s hossz\u00fa t\u00e1v\u00fa monitoriz\u00e1l\u00e1s\u00e1ra. Aj\u00e1nl\u00e1sunk a leg\u00fajabb inform\u00e1ci\u00f3kra alapozva seg\u00edti a feln\u0151tt SMA-betegek palliat\u00edv ell\u00e1t\u00e1s\u00e1t \u00e9s gy\u00f3gyszeres kezel\u00e9s\u00e9t, a szem\u00e9lyre szabott kezel\u00e9s sor\u00e1n figyelembe veend\u0151 hat\u00e9konys\u00e1gi \u00e9s biztons\u00e1goss\u00e1gi szempontokat ny\u00fajt. R\u00e1vil\u00e1g\u00edt a k\u00e9s\u0151bbiekben megv\u00e1laszo\u00adlan\u00add\u00f3, egyel\u0151re nyitott k\u00e9rd\u00e9sekre is. Az aj\u00e1nl\u00e1s mindennapi gyakorlatban val\u00f3 haszn\u00e1lata a kezel\u00e9s optimaliz\u00e1ci\u00f3j\u00e1t eredm\u00e9nyezheti.<\/jats:p>","DOI":"10.18071\/isz.74.0079","type":"journal-article","created":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T12:59:27Z","timestamp":1617281967000},"page":"79-86","source":"Crossref","is-referenced-by-count":2,"title":["A Magyar Klinikai Neurogenetikai T\u00e1rsas\u00e1g konszenzusaj\u00e1nl\u00e1sa a feln\u0151ttkori spinalis izomatrophia (SMA) kezel\u00e9s\u00e9hez"],"prefix":"10.18071","volume":"74","author":[{"given":"Judit","family":"Bocz\u00e1n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e9ter","family":"Kliv\u00e9nyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette","family":"K\u00e1lm\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Karcagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9nes","family":"Z\u00e1dori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2021,3,30]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"deposited":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T12:59:28Z","timestamp":1617281968000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/consensus-statement-of-the-hungarian-clinical-neurogenic-society-about-the-therapy-of-adult-sma-patients"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":0,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2021,3,30]]},"published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.74.0079","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}