{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T21:40:02Z","timestamp":1738273202188,"version":"3.35.0"},"reference-count":51,"publisher":"Akademiai Kiado Zrt.","issue":"27","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,7,1]]},"abstract":"<jats:p>Az ismert famili\u00e1ris, nem konjug\u00e1lt hyperbilirubinaemi\u00e1k k\u00f6z\u00e9 tartoz\u00f3 Gilbert-szindr\u00f3ma az \u00e1tlagpopul\u00e1ci\u00f3 7\u201310%-\u00e1t \u00e9rint\u0151 benignus k\u00f3rk\u00e9p. T\u00fcnetei rendszerint aspecifikusak, egyed\u00fcl az esetlegesen el\u0151fordul\u00f3 s\u00e1rgas\u00e1g, tov\u00e1bb\u00e1 az enyh\u00e9n emelkedett nem konjug\u00e1lt bilirubin szintje utal a rendelleness\u00e9gre. M\u00e1s labor\u00e9rt\u00e9kek \u00e9s a m\u00e1jbiopszia \u00e1ltal\u00e1ban nem mutat elt\u00e9r\u00e9st a norm\u00e1list\u00f3l. A betegs\u00e9g h\u00e1tter\u00e9ben a legt\u00f6bb esetben az UDP-gl\u00fckuronil-transzfer\u00e1z g\u00e9n r\u00e9szleges m\u0171k\u00f6d\u00e9szavara \u00e1ll. A g\u00e9n azt az enzimet k\u00f3dolja, amely a bilirubin gl\u00fckuronsavval val\u00f3 konjug\u00e1ci\u00f3j\u00e1t seg\u00edti. Noha a Gilbert-szindr\u00f3ma diagnosztiz\u00e1l\u00e1sa kor\u00e1bban hagyom\u00e1nyos laborat\u00f3riumi m\u00f3dszerekkel \u00e9s csal\u00e1di anamn\u00e9zis felv\u00e9tel\u00e9vel t\u00f6rt\u00e9nt, napjainkban lehet\u0151s\u00e9g van az UDP-gl\u00fckuronil-transzfer\u00e1z g\u00e9n genetikai vari\u00e1nsainak meghat\u00e1roz\u00e1s\u00e1ra. A g\u00e9n promoterr\u00e9gi\u00f3j\u00e1ban, homozig\u00f3ta form\u00e1ban l\u00e9v\u0151 (TA)-inszerci\u00f3 \u2013 (TA)<jats:sub>7<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub>\u2013 a betegek 80\u2013100%-\u00e1ban jelen van, \u00e9s az akt\u00edv UDP-gl\u00fckuronil-transzfer\u00e1z mennyis\u00e9g\u00e9nek cs\u00f6kken\u00e9s\u00e9hez vezet. A k\u00f3dol\u00f3r\u00e9gi\u00f3ban tal\u00e1lhat\u00f3 missense mut\u00e1ci\u00f3k szerepe m\u00e9g nem teljesen tiszt\u00e1zott, de a (TA)<jats:sub>7<\/jats:sub>promotervari\u00e1nssal val\u00f3 egy\u00fcttes el\u0151fordul\u00e1suk magyar\u00e1zatul szolg\u00e1lhat az emelkedett bilirubinszintre \u00e9s a s\u00e1rgas\u00e1gra, valamint a Gilbert-szindr\u00f3ma csal\u00e1di halmoz\u00f3d\u00e1s\u00e1ra.<\/jats:p>","DOI":"10.1556\/oh.2008.28381","type":"journal-article","created":{"date-parts":[[2008,6,25]],"date-time":"2008-06-25T13:34:50Z","timestamp":1214400890000},"page":"1277-1282","source":"Crossref","is-referenced-by-count":1,"title":["Gilbert syndrome"],"prefix":"10.1556","volume":"149","author":[{"given":"Bernadett","family":"Farag\u00f3","sequence":"first","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"1 P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1002\/hep.510230519","volume":"23","year":"1996","journal-title":"Hepatology"},{"key":"atypb2","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1093\/hmg\/7.2.203","volume":"7","year":"1998","journal-title":"Hum. 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