{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T00:13:54Z","timestamp":1700784834234},"reference-count":26,"publisher":"Akademiai Kiado Zrt.","issue":"46","license":[{"start":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T00:00:00Z","timestamp":1700352000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2023,11,19]]},"abstract":"<jats:p>A Niemann\u2013Pick-betegs\u00e9g a lizoszom\u00e1lis t\u00e1rol\u00e1si betegs\u00e9gek csoportj\u00e1ba tartoz\u00f3\n                    ritka, autoszom\u00e1lis recessz\u00edven \u00f6r\u00f6kl\u0151d\u0151 betegs\u00e9g. H\u00e1tter\u00e9ben a szfingomielin\u00e1z\n                    enzim hi\u00e1nya vagy cs\u00f6kkent m\u0171k\u00f6d\u00e9se, illetve az intracellul\u00e1ris\n                    koleszterintranszporter feh\u00e9rje deficienti\u00e1ja \u00e1ll, \u00e9s a lebont\u00e1si zavar miatt a\n                    sejtek lizosz\u00f3m\u00e1iban szfingomielin \u00e9s koleszterin szaporodik fel. A betegs\u00e9g 5\n                    alt\u00edpus\u00e1t (A, A\/B, B, C, D) k\u00fcl\u00f6nb\u00f6ztetj\u00fck meg. A szerz\u0151k egy 24 \u00e9ves,\n                    gyermekkor\u00e1ban B-t\u00edpus\u00fa Niemann\u2013Pick-betegs\u00e9ggel diagnosztiz\u00e1lt fiatal f\u00e9rfi\n                    eset\u00e9t mutatj\u00e1k be, k\u00fcl\u00f6n\u00f6s tekintettel a betegs\u00e9g szem\u00e9szeti manifeszt\u00e1ci\u00f3j\u00e1ra.\n                    A beteg vizsg\u00e1lata sor\u00e1n fundusfot\u00f3k \u00e9s fundusautofluoreszcencia-felv\u00e9telek\n                    k\u00e9sz\u00fcltek, tov\u00e1bb\u00e1 optikaikoherencia-tomogr\u00e1fi\u00e1s (OCT-), OCT-angiogr\u00e1fi\u00e1s\n                    (OCTA-) \u00e9s l\u00e1t\u00f3t\u00e9r (perimetria)-vizsg\u00e1latok t\u00f6rt\u00e9ntek. A szemfen\u00e9k\n                    vizsg\u00e1latakor, illetve a fundusfot\u00f3kon j\u00f3l l\u00e1tszott a betegs\u00e9gre jellegzetes\n                    macularis gy\u0171r\u0171 alak\u00fa udvar (tov\u00e1bbiakban halo) \u00e9s a cseresznyepiros folt a\n                    fove\u00e1ban. Az OCT-felv\u00e9teleken a macularis halo megfelel\u0151en nagy reflektivit\u00e1s\u00fa,\n                    fok\u00e1lis megvastagod\u00e1s \u00e1br\u00e1zol\u00f3dott a ganglionsejtr\u00e9tegben, a foveola ter\u00fclete\n                    megk\u00edm\u00e9lt volt. A l\u00e1t\u00f3t\u00e9rvizsg\u00e1lattal mindk\u00e9t szem l\u00e1t\u00f3tere \u00e9p volt. A\n                    bemutatott p\u00e1ciens eset\u00e9hez hasonl\u00f3an a B-alt\u00edpusba tartoz\u00f3 betegekn\u00e9l a t\u00fcnetek\n                    enyh\u00e9bbek, a visceralis t\u00fcnetek mellett idegrendszeri t\u00fcnetek nincsenek, \u00e9s a\n                    specifikus szem\u00e9szeti elt\u00e9r\u00e9sek nem okoznak l\u00e1t\u00e1sroml\u00e1st. Jelenleg a\n                    Niemann\u2013Pick-betegs\u00e9g ritka betegs\u00e9gnek sz\u00e1m\u00edt, sok esetben a betegek diagn\u00f3zisa\n                    k\u00e9sik vagy ak\u00e1r el is maradhat az aspecifikus vagy enyhe t\u00fcnetek miatt. A\n                    szakter\u00fcletek k\u00f6z\u00f6tti konzult\u00e1ci\u00f3 r\u00e9v\u00e9n belgy\u00f3gy\u00e1szati szempontb\u00f3l t\u00fcnetszeg\u00e9ny\n                    esetekben a szem\u00e9szeti vizsg\u00e1lat is hozz\u00e1j\u00e1rulhat a j\u00f3 diagn\u00f3zishoz. Az id\u0151ben\n                    t\u00f6rt\u00e9n\u0151 diagn\u00f3zissal a t\u00fcnetek az egyre b\u0151v\u00fcl\u0151 ter\u00e1pi\u00e1s lehet\u0151s\u00e9geknek\n                    k\u00f6sz\u00f6nhet\u0151en m\u00e9rs\u00e9kelhet\u0151k, a betegs\u00e9g progresszi\u00f3ja stabiliz\u00e1lhat\u00f3, a betegek\n                    \u00e9lettartama \u00edgy n\u00f6vekedhet. Orv Hetil. 2023; 164(46): 1838\u20131844.<\/jats:p>","DOI":"10.1556\/650.2023.32927","type":"journal-article","created":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T07:25:36Z","timestamp":1700378736000},"page":"1838-1844","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["Feln\u0151ttkori B-t\u00edpus\u00fa Niemann\u2013Pick-betegs\u00e9g szem\u00e9szeti manifeszt\u00e1ci\u00f3ja"],"prefix":"10.1556","volume":"164","author":[{"given":"Orsolya","family":"Angeli","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zolt\u00e1n","family":"Nagy","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikl\u00f3s","family":"Schneider","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Szem\u00e9szeti Klinika Budapest Magyarorsz\u00e1g"},{"name":"Department of Ophthalmology, Rigshospitalet Valdemar Hansens Vej 1\u201323, DK-2600 Glostrup Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"1424","DOI":"10.1016\/j.ophtha.2003.10.034","article-title":"Ocular manifestations of Niemann-Pick disease type B","volume":"111","author":"1 McGovern","year":"2004","unstructured":"1 McGovern MM, Wasserstein MP, Aron A, et al. 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