{"id":55178,"date":"2025-11-29T13:00:18","date_gmt":"2025-11-29T13:00:18","guid":{"rendered":"https:\/\/cardiacinstitute.bg\/?p=55178"},"modified":"2025-11-29T13:34:51","modified_gmt":"2025-11-29T13:34:51","slug":"geneticists-and-nephrologists-at-mama-and-i-introduce-state-of-the-art-diagnostic-approaches-for-congenital-kidney-anomalies","status":"publish","type":"post","link":"https:\/\/cardiacinstitute.bg\/tr\/2025\/11\/29\/geneticists-and-nephrologists-at-mama-and-i-introduce-state-of-the-art-diagnostic-approaches-for-congenital-kidney-anomalies\/","title":{"rendered":"\u201cMama ve Ben\u201d Klini\u011fi\u2019ndeki Genetik\u00e7iler ve Nefrologlar, Do\u011fumsal B\u00f6brek Anomalileri i\u00e7in En Modern Tan\u0131 Yakla\u015f\u0131mlar\u0131n\u0131 Uyguluyor"},"content":{"rendered":"<p>Miras yoluyla ge\u00e7en b\u00f6brek hastal\u0131klar\u0131, Avrupa\u2019da 100.000 ki\u015fiden 60\u201380\u2019ini etkilemekte olup, son y\u0131llarda g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 \u00f6nemli \u00f6l\u00e7\u00fcde artm\u0131\u015ft\u0131r. Bu hastal\u0131klar, \u00e7ocukluk \u00e7a\u011f\u0131nda kronik b\u00f6brek hasar\u0131n\u0131n \u00f6nde gelen nedenlerinden biridir ve vakalar\u0131n %30\u201350\u2019sinde genetik temel tespit edilmektedir. Son d\u00f6nem b\u00f6brek yetmezli\u011fine ula\u015fan ve diyaliz veya nakil gerektiren \u00e7ocuklar\u0131n neredeyse tamam\u0131 bu t\u00fcr kal\u0131tsal hastal\u0131klardan muzdariptir. Bu hastal\u0131klar s\u0131kl\u0131kla di\u011fer organ ve sistemleri de etkiledi\u011finden, tedavi i\u00e7in karma\u015f\u0131k bir yakla\u015f\u0131m ve \u00f6nemli kaynaklar gerektirir.<\/p>\n<p data-start=\"797\" data-end=\"1047\">Bulgaria\u2019da t\u00fcr\u00fcn\u00fcn tek \u00f6rne\u011fi olan <strong data-start=\"833\" data-end=\"850\">\u201cMama ve Ben\u201d<\/strong> Anne ve \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 Klini\u011fi\u2019nde, nefrologlar ve genetik\u00e7ilerden olu\u015fan \u00e7ok disiplinli bir ekip, kal\u0131tsal nefropatilerin tan\u0131 ve tedavisinde uluslararas\u0131 kabul g\u00f6rm\u00fc\u015f y\u00f6ntemleri uygulamaktad\u0131r.<\/p>\n<p data-start=\"1049\" data-end=\"1646\">T\u0131bbi Genetik Laboratuvar\u0131 uzmanlar\u0131, \u00e7ocuk nefrolo\u011fu Do\u00e7. Dr. Maria Gaydarova ile birlikte, b\u00f6breklerin ve idrar yollar\u0131n\u0131n do\u011fumsal anomalilerini belirlemek i\u00e7in g\u00fcnl\u00fck olarak modern tan\u0131 algoritmalar\u0131n\u0131 kullanmaktad\u0131r. Bu yakla\u015f\u0131m sayesinde ekip, <strong data-start=\"1299\" data-end=\"1307\">PKD1<\/strong> ve <strong data-start=\"1311\" data-end=\"1320\">PKHD1<\/strong> genlerinde patojenik varyantlar\u0131 tespit ederek <strong data-start=\"1368\" data-end=\"1390\">b\u00f6brek polikistozu<\/strong> vakas\u0131n\u0131n genetik nedenini ba\u015far\u0131yla belirlemi\u015ftir. Ba\u015fka bir vaka ise, <strong data-start=\"1463\" data-end=\"1482\">Alport sendromu<\/strong> ile ili\u015fkili <strong data-start=\"1496\" data-end=\"1506\">COL4A3<\/strong> mutasyonu ta\u015f\u0131yan bir aileyi ortaya \u00e7\u0131karm\u0131\u015ft\u0131r. Bu sendrom, karakteristik b\u00f6brek belirtileri olan \u00e7ok sistemli kal\u0131tsal bir hastal\u0131kt\u0131r.<\/p>\n<p data-start=\"1648\" data-end=\"2126\">\u201cT\u0131p genetik\u00e7ileri, genetik bulgular\u0131 yorumlarken g\u00fcnl\u00fck olarak \u00f6nemli zorluklarla kar\u015f\u0131la\u015f\u0131yor ve do\u011fru tan\u0131, hem hasta hem de t\u00fcm aile i\u00e7in klinik ve \u00fcreme y\u00f6netimi a\u00e7\u0131s\u0131ndan kritik \u00f6neme sahip,\u201d diye vurguluyor T\u0131bbi Genetik Laboratuvar\u0131\u2019ndan Dr. Petya Angelova. \u201cEn y\u00fcksek ba\u015far\u0131, erken tan\u0131 ve ciddi komplikasyonlar\u0131n \u00f6nlenmesi ile elde edilir. Hastalar\u0131n en ileri evrelere ula\u015fmas\u0131na izin veremeyiz; \u00e7\u00fcnk\u00fc tedavi bu a\u015famalarda \u00e7ok daha zor ve daha az etkili hale gelir.\u201d<\/p>\n<p data-start=\"2128\" data-end=\"2506\">Pediatrik nefrologlar, \u00e7ocuk doktorlar\u0131, yenido\u011fan uzmanlar\u0131 ve klinik genetik\u00e7iler aras\u0131nda \u2013 \u00e7o\u011fu zaman \u00fclkenin \u00f6nde gelen fetal morfologlar\u0131 ve \u00e7ocuk \u00fcrologlar\u0131yla i\u015f birli\u011fi i\u00e7inde \u2013 s\u0131k\u0131 bir i\u015f birli\u011fi sayesinde, <strong data-start=\"2346\" data-end=\"2363\">\u201cMama ve Ben\u201d<\/strong> klini\u011findeki en k\u00fc\u00e7\u00fck hastalar modern, eri\u015filebilir ve kapsaml\u0131 bak\u0131m almaktad\u0131r; bu bak\u0131m, Avrupa d\u00fczeyinde genetik tan\u0131y\u0131 da i\u00e7ermektedir.<\/p>\n<p data-start=\"2508\" data-end=\"2825\">Ekip taraf\u0131ndan y\u00fcr\u00fct\u00fclen klinik vakalar ve elde edilen sonu\u00e7lar, Ulusal Nefroloji Konferans\u0131\u2019nda sunulmu\u015f ve b\u00fcy\u00fck ilgi ve y\u00fcksek takdir toplam\u0131\u015ft\u0131r. Akademik j\u00fcri, Do\u00e7. Dr. Maria Gaydarova, Dr. Todor Vasilev, Dr. Natalia Todorov ve Dr. Petya Angelova\u2019y\u0131 ortak bilimsel ve pratik \u00e7al\u0131\u015fmalar\u0131 i\u00e7in \u00f6d\u00fcllendirmi\u015ftir.<\/p>\n<p data-start=\"2827\" data-end=\"3101\"><strong data-start=\"2827\" data-end=\"2844\">\u201cMama ve Ben\u201d<\/strong> uzmanlar\u0131n\u0131n bu son ba\u015far\u0131s\u0131, klini\u011fi Bulgaristan\u2019da \u00e7ocuk sa\u011fl\u0131\u011f\u0131 alan\u0131nda lider bir merkez olarak peki\u015ftirmekte olup, Pediatri Klini\u011fi ekibinin y\u00fcksek profesyonelli\u011fi ve adanm\u0131\u015fl\u0131\u011f\u0131n\u0131n bir sonucudur; klinik Dr. Velimir Simov taraf\u0131ndan y\u00f6netilmektedir.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Miras yoluyla ge\u00e7en b\u00f6brek hastal\u0131klar\u0131, Avrupa\u2019da 100.000 ki\u015fiden 60\u201380\u2019ini etkilemekte olup, son y\u0131llarda g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 \u00f6nemli \u00f6l\u00e7\u00fcde artm\u0131\u015ft\u0131r. Bu hastal\u0131klar, \u00e7ocukluk \u00e7a\u011f\u0131nda kronik b\u00f6brek hasar\u0131n\u0131n \u00f6nde gelen nedenlerinden biridir ve vakalar\u0131n %30\u201350\u2019sinde genetik temel tespit edilmektedir. Son d\u00f6nem b\u00f6brek yetmezli\u011fine ula\u015fan ve diyaliz veya nakil gerektiren \u00e7ocuklar\u0131n neredeyse tamam\u0131 bu t\u00fcr kal\u0131tsal hastal\u0131klardan muzdariptir. Bu [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[200],"tags":[],"class_list":["post-55178","post","type-post","status-publish","format-standard","hentry","category-haber"],"_links":{"self":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/55178","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/comments?post=55178"}],"version-history":[{"count":2,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/55178\/revisions"}],"predecessor-version":[{"id":55180,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/55178\/revisions\/55180"}],"wp:attachment":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/media?parent=55178"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/categories?post=55178"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/tags?post=55178"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}