{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T04:39:09Z","timestamp":1648787949563},"reference-count":18,"publisher":"Akademiai Kiado Zrt.","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,2,1]]},"abstract":"<jats:p>A beteg nyolc h\u00f3napos \u00e9letkorban ker\u00fclt vizsg\u00e1latra p\u00e1r napja \u00e9szlelt \u00e9tv\u00e1gytalans\u00e1g \u00e9s m\u00e9rs\u00e9kelt elesetts\u00e9g miatt. Laborat\u00f3riumi eredm\u00e9nyei s\u00falyos hypokalaemi\u00e1t, hyponatraemi\u00e1t \u00e9s hypochloraemi\u00e1s alkalosist mutattak. Mivel az alacsony sz\u00e9rumelektrolit-\u00e9rt\u00e9keknek megfelel\u0151en alacsony vizeletelektrolit-\u00fcr\u00edt\u00e9s \u00e9s emelkedett renin-, aldoszteronszint volt \u00e9szlelhet\u0151, az \u00e1llapot pszeudo-Bartter-szindr\u00f3m\u00e1nak felelt meg. Felvet\u0151d\u00f6tt a mucoviscidosis diagn\u00f3zisa, ezt az emelkedett verejt\u00e9kkloridszint igazolta. A ciszt\u00e1s fibrosis transzmembr\u00e1n regul\u00e1tor g\u00e9n 27 exonj\u00e1nak szekven\u00e1l\u00e1sa sor\u00e1n a szerz\u0151k k\u00e9t, ritk\u00e1n el\u0151fordul\u00f3 mut\u00e1ci\u00f3t detekt\u00e1ltak kevert heterozig\u00f3ta form\u00e1ban, az egyik a 10. exonban tal\u00e1lt C1529G-, a m\u00e1sik a 20. exonban azonos\u00edtott G3978A-mut\u00e1ci\u00f3. Ezek a cser\u00e9k a mut\u00e1ci\u00f3 hely\u00e9n stopkodon l\u00e9trej\u00f6tt\u00e9hez vezetnek mindk\u00e9t all\u00e9lon (S466X \u00e9s W1282X). A mut\u00e1ci\u00f3k k\u00f6z\u00fcl az els\u0151 hordoz\u00e1s\u00e1t az egy\u00e9bk\u00e9nt t\u00fcnetmentes any\u00e1ban, az ut\u00f3bbi\u00e9t a szint\u00e9n panaszmentes ap\u00e1ban siker\u00fclt kimutatni. A gyermekben \u00e9s az any\u00e1ban a fentiek mellett a 17-es exonban m\u00e9g egy G3341A-mut\u00e1ci\u00f3t is tal\u00e1ltak, ami elm\u00e9letileg R1070Q-aminosav-cser\u00e9vel is j\u00e1r. A gyakorlatban azonban ez nem k\u00f6vetkezhet be a gyermekben a C1529G-mut\u00e1ci\u00f3val t\u00e1rsul\u00f3 stopkodon kialakul\u00e1sa miatt, \u00edgy k\u00f6vetkezm\u00e9nnyel sem kell sz\u00e1molni. Ezek az elt\u00e9r\u00e9sek \u0394F508-mut\u00e1ci\u00f3val kombin\u00e1lva elt\u00e9r\u0151 s\u00falyoss\u00e1g\u00fa t\u00fcneteket okoznak a k\u00fcl\u00f6nb\u00f6z\u0151 betegekben; egy\u00fcttes el\u0151fordul\u00e1sukr\u00f3l azonban a szerz\u0151knek nincs ismeret\u00fck. A beteg m\u00e1sf\u00e9l \u00e9ves nyomon k\u00f6vet\u00e9se sor\u00e1n a k\u00f3rlefoly\u00e1s benignusnak t\u0171nt.<\/jats:p>","DOI":"10.1556\/oh.2008.28239","type":"journal-article","created":{"date-parts":[[2008,4,12]],"date-time":"2008-04-12T00:18:03Z","timestamp":1207959483000},"page":"325-328","source":"Crossref","is-referenced-by-count":3,"title":["Pseudo-Bartter syndrome in a case of cystic fibrosis caused by C1529G and G3978A compound heterozygosity"],"prefix":"10.1556","volume":"149","author":[{"given":"Katalin","family":"Horvatovich","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria","family":"\u00d6rk\u00e9nyi","sequence":"additional","affiliation":[{"name":"2 Baranya Megyei Kerpel-Fronius \u00d6d\u00f6n Gyermekk\u00f3rh\u00e1z P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"B\u00edr\u00f3","sequence":"additional","affiliation":[{"name":"2 Baranya Megyei Kerpel-Fronius \u00d6d\u00f6n Gyermekk\u00f3rh\u00e1z P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1lm\u00e1n","family":"Pongr\u00e1cz","sequence":"additional","affiliation":[{"name":"3 Vas Megyei Markusovszky Lajos K\u00f3rh\u00e1z, Egyetemi Oktat\u00f3k\u00f3rh\u00e1z Szombathely"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Kisfali","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Tali\u00e1n","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika","family":"Cs\u00f6ngei","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"J\u00e1romi","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enik\u0151","family":"S\u00e1fr\u00e1ny","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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferenc","family":"Harangi","sequence":"additional","affiliation":[{"name":"2 Baranya Megyei Kerpel-Fronius \u00d6d\u00f6n Gyermekk\u00f3rh\u00e1z P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Endre","family":"Sulyok","sequence":"additional","affiliation":[{"name":"2 Baranya Megyei Kerpel-Fronius \u00d6d\u00f6n Gyermekk\u00f3rh\u00e1z P\u00e9cs"}],"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 u. 12. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/S0140-6736(00)02652-0","volume":"356","year":"2000","journal-title":"Lancet"},{"key":"atypb2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/978-1-4684-5934-0_2","volume":"290","year":"1991","journal-title":"Adv. Exp. Med. Biol."},{"key":"atypb3","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/318384a0","volume":"318","year":"1985","journal-title":"Nature"},{"key":"atypb4","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","volume":"245","year":"1989","journal-title":"Science"},{"key":"atypb5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/humu.1380040302","volume":"4","year":"1994","journal-title":"Hum. Mutat."},{"key":"atypb6","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/humu.10041","volume":"19","year":"2002","journal-title":"Hum. Mutat."},{"key":"atypb7","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J","volume":"10","year":"1997","journal-title":"Hum. Mutat."},{"key":"atypb8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/sj.ejhg.5200970","volume":"11","year":"2003","journal-title":"Eur. J. Hum. 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