{"id":26577,"date":"2024-03-07T10:59:04","date_gmt":"2024-03-07T10:59:04","guid":{"rendered":"https:\/\/kraios.app\/news\/saglik\/2024\/03\/07\/turk-bilim-insanlari-cocuklarda-bobrek-yetmezliginde-kilit-rol-oynayan-geni-saptadi\/"},"modified":"2024-03-07T10:59:04","modified_gmt":"2024-03-07T10:59:04","slug":"turk-bilim-insanlari-cocuklarda-bobrek-yetmezliginde-kilit-rol-oynayan-geni-saptadi","status":"publish","type":"post","link":"https:\/\/kraios.app\/news\/saglik\/2024\/03\/07\/turk-bilim-insanlari-cocuklarda-bobrek-yetmezliginde-kilit-rol-oynayan-geni-saptadi\/","title":{"rendered":"T\u00fcrk bilim insanlar\u0131 \u00e7ocuklarda b\u00f6brek yetmezli\u011finde kilit rol oynayan geni saptad\u0131"},"content":{"rendered":"

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H\u00dc T\u0131p Fak\u00fcltesi \u00c7ocuk Nefrolojisi Bilim Dal\u0131 \u00d6\u011fretim \u00dcyesi Prof. Dr. Fatih \u00d6zalt\u0131n, konuya ili\u015fkin AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, 2021’de ba\u015flayan bilimsel \u00e7al\u0131\u015fman\u0131n, \u0130stanbul \u00dcniversitesi Cerrahpa\u015fa T\u0131p Fak\u00fcltesi Pediatrik Nefroloji Bilim Dal\u0131 ile M\u00fcnih Teknik \u00dcniversitesi i\u015fbirli\u011finde y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc aktard\u0131.<\/p>\n

\u00c7al\u0131\u015fmada, Cerrahpa\u015fa T\u0131p Fak\u00fcltesinde kronik b\u00f6brek yetmezli\u011fine yol a\u00e7an \u00dcriner Sistemin Konjenital Anomalisi (USKA) tan\u0131l\u0131 iki k\u00fc\u00e7\u00fck karde\u015fin ara\u015ft\u0131r\u0131ld\u0131\u011f\u0131n\u0131, \u00e7ocuklar\u0131n akraba evlili\u011fi sonucu d\u00fcnyaya geldi\u011fini anlatan \u00d6zalt\u0131n, ailede genetik fakt\u00f6rlerin incelendi\u011fini s\u00f6yledi.<\/p>\n

\"\"<\/p>\n

“Kal\u0131tsal Nadir B\u00f6brek Hastal\u0131klar\u0131nda Yeni Genlerin Ara\u015ft\u0131r\u0131lmas\u0131” ba\u015fl\u0131kl\u0131 proje kapsam\u0131nda desteklenen ara\u015ft\u0131rman\u0131n genetik \u00e7al\u0131\u015fmalar\u0131n\u0131n Hacettepe’de y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc belirten \u00d6zalt\u0131n, “Yapt\u0131\u011f\u0131m\u0131z bilimsel \u00e7al\u0131\u015fma neticesinde FOXD2 ad\u0131n\u0131 verdi\u011fimiz gene ula\u015ft\u0131k. Bu genin mutasyona u\u011framas\u0131 sonucu USKA anomalisine nas\u0131l yol a\u00e7t\u0131\u011f\u0131na y\u00f6nelik ileri ara\u015ft\u0131rmalar\u0131 ba\u015flatt\u0131k.” ifadesini kulland\u0131.<\/p>\n

“Gen, bebeklerin b\u00f6brek geli\u015fiminde hayati bir a\u015famay\u0131 d\u00fczenliyor”<\/h3>\n

Prof. Dr. \u00d6zalt\u0131n, bu \u00e7er\u00e7evede uluslararas\u0131 i\u015fbirli\u011fine gidildi\u011fini ve M\u00fcnih Teknik \u00dcniversitesince takip edilen, ayn\u0131 gende mutasyona sahip hasta bir ailenin daha belirlendi\u011fini anlatarak, \u015f\u00f6yle dedi: <\/p>\n

“Yap\u0131lan i\u015fbirli\u011fi ve \u00e7al\u0131\u015fmam\u0131z sonucunda, FOXD2 ad\u0131n\u0131 verdi\u011fimiz genin, idrar yollar\u0131 ve b\u00f6bre\u011fi i\u00e7ine alan \u00fcriner sistemin geli\u015fiminde \u00e7ok kritik bir rol \u00fcstlendi\u011fini, anne karn\u0131ndaki bebeklerde b\u00f6bre\u011fin geli\u015fiminde hayati bir a\u015famay\u0131 d\u00fczenledi\u011fini ortaya koyduk. Bunu birtak\u0131m hayvan deneyleriyle de g\u00f6sterdik. FOXD2 geni susturulmu\u015f hayvanlarda, insandakine benzer b\u00f6brek problemlerinin ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 saptad\u0131k.”<\/p>\n

“D\u00fcnyada ilk kez ortaya konuldu”<\/h3>\n

\u00c7ok geni\u015f kapsaml\u0131, detayl\u0131 bir \u00e7al\u0131\u015fma y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc ve \u00f6n sonu\u00e7lar\u0131n\u0131n yay\u0131mland\u0131\u011f\u0131n\u0131 vurgulayan \u00d6zalt\u0131n, \u0130srail’den uzmanlar\u0131n da benzer durumda hastalar\u0131n\u0131n oldu\u011funu kendilerine bildirdi\u011fini kaydetti.<\/p>\n

\"\"<\/p>\n

Prof. Dr. Fatih \u00d6zalt\u0131n, \u015f\u00f6yle devam etti:<\/p>\n

“D\u00fcnyada \u00e7ok nadir bir hastal\u0131k i\u00e7in \u00fc\u00e7 farkl\u0131 aile ve ayn\u0131 gende \u00fc\u00e7 farkl\u0131 mutasyon tan\u0131mlad\u0131k. Bu da FOXD2 genindeki bozuklu\u011fun USKA anomalisinden sorumlu olaca\u011f\u0131n\u0131 ispatlayan en \u00f6nemli bulgulardan bir tanesi oldu. Daha \u00f6nce ad\u0131 bilinen ama hangi durumlara yol a\u00e7t\u0131\u011f\u0131 bilinmeyen FOXD2 genindeki bozukluklar\u0131n USKA anomalisi ile ili\u015fkisi d\u00fcnyada ilk kez bu \u00e7al\u0131\u015fmada ortaya konuldu. Literat\u00fcre sunulan \u00e7al\u0131\u015fmam\u0131z, nefroloji alan\u0131n\u0131n en prestijli dergilerinden birisi olan Kidney International’da yay\u0131mland\u0131.”<\/p>\n

“Do\u011fu\u015ftan gelen \u00e7ok \u00f6nemli bir sa\u011fl\u0131k sorunu”<\/h3>\n

USKA’ya ili\u015fkin bilgileri de payla\u015fan \u00d6zalt\u0131n, “Bu anomali, \u00e7ocuklarda diyaliz ve nakil gerektiren son a\u015fama b\u00f6brek yetmezliklerinin en \u00f6nemli sebebi. Anne karn\u0131ndaki b\u00f6brekle ilgili geli\u015fimsel sorunlar sonucunda ortaya \u00e7\u0131kan, do\u011fu\u015ftan gelen \u00e7ok \u00f6nemli bir sa\u011fl\u0131k sorunu.” diye konu\u015ftu.<\/p>\n

\"\"<\/p>\n

Prof. Dr. \u00d6zalt\u0131n, USKA’n\u0131n alt\u0131nda bir\u00e7ok hastal\u0131k grubunun yatt\u0131\u011f\u0131n\u0131 belirterek, “Tan\u0131mlad\u0131\u011f\u0131m\u0131z FOXD2 geni mutasyonuna sahip aileler, uzun zaman b\u00f6brek fonksiyonlar\u0131 nispeten korunmu\u015f olarak ya\u015famlar\u0131n\u0131 s\u00fcrd\u00fcrebildiler ama \u015fu an itibar\u0131yla zaten b\u00f6brek yetmezli\u011fini onlar da ya\u015f\u0131yor. Hastal\u0131\u011f\u0131n baz\u0131 a\u011f\u0131r formlar\u0131nda ise bebeklerde do\u011fduklar\u0131 g\u00fcn itibar\u0131yla diyaliz ihtiyac\u0131 olu\u015fuyor.” ifadesini kulland\u0131.<\/p>\n

\u00d6zalt\u0131n, \u00e7al\u0131\u015fman\u0131n hastal\u0131\u011f\u0131n altta yatan mekanizmalar\u0131n\u0131n ayd\u0131nlat\u0131lmas\u0131 ve buna uygun tedavilerin geli\u015ftirilmesi a\u00e7\u0131s\u0131ndan \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131n alt\u0131n\u0131 \u00e7izdi.<\/p>\n

“En \u00f6nemli risk fakt\u00f6r\u00fc akraba evlilikleri”<\/h3>\n

USKA’n\u0131n genetik y\u00f6n\u00fcne i\u015faret eden \u00d6zalt\u0131n, “Anomalinin en \u00f6nemli risk fakt\u00f6r\u00fc akraba evlilikleri. Sadece bu hastal\u0131k de\u011fil t\u00fcm nadir hastal\u0131klar a\u00e7\u0131s\u0131ndan durum b\u00f6yle. Nadir hastal\u0131k y\u00fck\u00fcn\u00fc azaltabilmek i\u00e7in ailelerin bilgilendirilmesi ve akraba evliliklerinden uzak durulmas\u0131 \u00e7ok \u00f6nemli.” \u015feklinde konu\u015ftu.<\/p>\n

\"\"<\/p>\n

\u00d6zalt\u0131n, a\u011f\u0131r vakalarda gebeli\u011fin erken d\u00f6nemlerinde USKA’n\u0131n tan\u0131mlanabildi\u011fini, \u00e7ocuklarda erken d\u00f6nemde tedaviye ba\u015flanmas\u0131n\u0131n \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 dile getirdi.<\/p>\n

“T\u0131p literat\u00fcr\u00fcne kazand\u0131rd\u0131\u011f\u0131m\u0131z 9’uncu gen”<\/h3>\n

Prof. Dr. Fatih \u00d6zalt\u0131n, \u00e7al\u0131\u015fman\u0131n heyecan verici oldu\u011funu vurgulayarak, \u015fu de\u011ferlendirmelerde bulundu:<\/p>\n

“Bu gen, laboratuvar\u0131m\u0131zda tan\u0131mlanarak t\u0131p literat\u00fcr\u00fcne kazand\u0131rd\u0131\u011f\u0131m\u0131z 9’uncu gen. \u00dcniversitemiz ve \u00fclkemiz ad\u0131na gurur duydu\u011fumuz, g\u00fczel s\u00fcre\u00e7ler. \u00dclkemizde de bu tip bilimsel \u00e7al\u0131\u015fmalar\u0131n yap\u0131labilece\u011fi, bu potansiyele sahip oldu\u011funu bir kez daha g\u00f6stermesi a\u00e7\u0131s\u0131ndan da \u00e7ok \u00f6nemli. Eminim T\u00fcrkiye’de her alanda bu \u015fekilde inovatif geli\u015fimler, bulu\u015flar m\u00fcmk\u00fcn. Bununla ilgili yeti\u015fmi\u015f bir kitlemiz, gen\u00e7 ve dinamik bir nesil var. Bu \u00e7al\u0131\u015fmalara daha fazla imkanlar\u0131n sunulmas\u0131, projelerle desteklenmesi \u00f6nemli.”<\/p>\n


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