{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T23:06:49Z","timestamp":1784934409299,"version":"3.55.0"},"reference-count":34,"publisher":"Akademiai Kiado Zrt.","issue":"51","license":[{"start":{"date-parts":[[2022,12,18]],"date-time":"2022-12-18T00:00:00Z","timestamp":1671321600000},"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":[[2022,12,18]]},"abstract":"<jats:p><jats:italic>Bevezet\u00e9s:<\/jats:italic> A cyst\u00e1s fibrosis (CF) az egyik leggyakoribb\n                    monog\u00e9nes betegs\u00e9g. A genetikai vizsg\u00e1lat a k\u00f3ros mut\u00e1ci\u00f3k kider\u00edt\u00e9s\u00e9vel a\n                    diagn\u00f3zis fel\u00e1ll\u00edt\u00e1s\u00e1hoz, illetve meger\u0151s\u00edt\u00e9s\u00e9hez egyre ink\u00e1bb elengedhetetlenn\u00e9\n                    v\u00e1lik. A magyar CF-betegek genetikai rev\u00edzi\u00f3j\u00e1t a kornak megfelel\u0151 diagnosztikai\n                    strat\u00e9gia kialak\u00edt\u00e1sa tette szu\u0308ks\u00e9gess\u00e9. Ezt a t\u00f6rekv\u00e9st k\u00e9s\u0151bb kieg\u00e9sz\u00edtette a\n                    CF-ben alkalmazhat\u00f3 mut\u00e1ci\u00f3specifikus kezel\u00e9s elv\u00e1r\u00e1sa, mely genetikai alapokon\n                    nyugszik. <jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic> A munkacsoport c\u00e9lk\u00e9nt t\u0171zte ki a magyar\n                    Cyst\u00e1s Fibrosis Regiszterben nyilv\u00e1ntartott betegek genetikai adatainak\n                    revide\u00e1l\u00e1s\u00e1t, illetve \u00e1tfog\u00f3 genot\u00edpus-elemz\u00e9s\u00e9t. <jats:italic>M\u00f3dszer:<\/jats:italic> A\n                    rev\u00edzi\u00f3 sor\u00e1n \u00f6sszesen 582 (528, regiszterben szerepl\u0151 \u00e9s 54, a rev\u00edzi\u00f3 ideje\n                    alatt \u00e9rkezett) beteg adataival, illetve mint\u00e1ival dolgoztunk. A megl\u00e9v\u0151 leletek\n                    \u00e1ttekint\u00e9se ut\u00e1n, amennyiben azok nem igazolt\u00e1k a CF diagn\u00f3zis\u00e1t, a\n                        <jats:italic>CFTR<\/jats:italic>-g\u00e9n h\u00e1romszint\u0171 genetikai anal\u00edzis\u00e9t v\u00e9gezt\u00fck el.\n                        <jats:italic>Eredm\u00e9nyek:<\/jats:italic> A regiszterben szerepl\u0151 528 vizsg\u00e1lt beteg\n                    k\u00f6z\u00fcl 395 (74,8%) eset\u00e9ben siker\u00fclt igazolni mindk\u00e9t k\u00f3roki vari\u00e1nst.\n                    Vizsg\u00e1lataink felder\u00edtett\u00e9k, illetve jav\u00edtott\u00e1k 94, kor\u00e1bban 1 mut\u00e1ci\u00f3val\n                    rendelkez\u0151 vagy kimutatott mut\u00e1ci\u00f3val nem rendelkez\u0151 beteg genetikai status\u00e1t\n                    is. \u00d6sszesen 73 k\u00fcl\u00f6nb\u00f6z\u0151 mut\u00e1ci\u00f3t detekt\u00e1ltunk, melyek k\u00f6z\u00f6tt egy kor\u00e1bban m\u00e9g\n                    nem k\u00f6z\u00f6lt, patog\u00e9n elt\u00e9r\u00e9st is le\u00edrtunk (c.3130G&gt;A). Az els\u0151 \u00f6t leggyakoribb\n                    mut\u00e1ci\u00f3 a hazai popul\u00e1ci\u00f3ban: F508del (68,4%); <jats:italic>CFTR<\/jats:italic>dele2,3\n                    (3,7%); G542X (3,2%); 2184insA (2,7%); W1282X (2,3%). Genot\u00edpus \u00e9s \u00e9letkor\n                    alapj\u00e1n 211 beteget tal\u00e1ltunk alkalmasnak a lumakaftor\u2013ivakaftor kombin\u00e1lt\n                    k\u00e9sz\u00edtm\u00e9nyre \u00e9s 361-et az ivakaftor\u2013tezakaftor\u2013elexakaftor ter\u00e1pi\u00e1ra, melyek m\u00e1r\n                    haz\u00e1nkban is el\u00e9rhet\u0151k. <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic> A rev\u00edzi\u00f3\n                    eredm\u00e9nyek\u00e9ppen felismer\u00e9sre ker\u00fcltek azok a betegek, akik t\u00fcneti ter\u00e1pia\n                    helyett a mut\u00e1ci\u00f3specifikus gy\u00f3gyszereknek k\u00f6sz\u00f6nhet\u0151en oki ter\u00e1pi\u00e1ban\n                    r\u00e9szes\u00fclhetnek. Emellett a megl\u00e9v\u0151 eredm\u00e9nyek alapj\u00e1n siker\u00fclt felt\u00e9rk\u00e9pezni a\n                        <jats:italic>CFTR-<\/jats:italic>g\u00e9n mut\u00e1ci\u00f3inak hazai megoszl\u00e1s\u00e1t, ami seg\u00edt a\n                    diagnosztikus strat\u00e9gia kialak\u00edt\u00e1s\u00e1ban. Orv Hetil. 2022; 163(51): 2052\u20132059.<\/jats:p>","DOI":"10.1556\/650.2022.32655","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T10:18:51Z","timestamp":1671617931000},"page":"2052-2059","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":3,"title":["A magyar Cyst\u00e1s Fibrosis Regiszter genetikai rev\u00edzi\u00f3ja"],"prefix":"10.1556","volume":"163","author":[{"given":"Anna","family":"De\u00e1k","sequence":"first","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Koczok","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Be\u00e1ta","family":"Bessenyei","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zsuzsanna","family":"Sz\u0171cs","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Madar","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Csorba","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsolya","family":"Orosz","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Istv\u00e1n","family":"Laki","sequence":"additional","affiliation":[{"name":"T\u00fcd\u0151gy\u00f3gyint\u00e9zet T\u00f6r\u00f6kb\u00e1lint, Gyermekoszt\u00e1ly T\u00f6r\u00f6kb\u00e1lint Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Hal\u00e1sz","sequence":"additional","affiliation":[{"name":"Orsz\u00e1gos Kor\u00e1nyi Pulmonol\u00f3giai Int\u00e9zet, Ciszt\u00e1s Fibr\u00f3zis R\u00e9szleg Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9za","family":"Marsal","sequence":"additional","affiliation":[{"name":"Ciszt\u00e1s Fibr\u00f3zis Betegek Egyes\u00fclete Buda\u00f6rs Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Istv\u00e1n","family":"Balogh","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Laborat\u00f3riumi Medicina Int\u00e9zet, Klinikai Genetikai Tansz\u00e9k Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"},{"name":"Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Hum\u00e1ngenetikai Tansz\u00e9k Debrecen Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"ref0","unstructured":"1 Iv\u00e1dy G. 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