Prof. Dr. Serdar Ceylaner, T\u00fcrkiye’de yakla\u015f\u0131k 7 milyon ki\u015fide nadir hastal\u0131k bulundu\u011funu belirterek, “Baz\u0131 kanserler, \u00e7ocuklardaki \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri ve hayat boyu s\u00fcren hastal\u0131klar\u0131n b\u00fcy\u00fck b\u00f6l\u00fcm\u00fc genetik k\u00f6kenli hastal\u0131klard\u0131r. Tam sebebini \u00f6\u011frenmek \u00e7ok \u00f6nemli” dedi.<\/b><\/p>\n
Nadir Hastal\u0131k G\u00f6n\u00fcll\u00fcleri Derne\u011fi Y\u00f6netim Kurulu \u00fcyesi de olan T\u0131bbi Genetik Uzman\u0131 Ceylaner, yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, diyabet, \u00f6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fc, otizm, ailesel kanserler ve buna benzer baz\u0131 hastal\u0131klar\u0131n arka plan\u0131nda bir\u00e7ok genetik rahats\u0131zl\u0131\u011f\u0131n bulunabilece\u011fine i\u015faret etti.<\/p>\n
Ceylaner, nadir hastal\u0131klar\u0131n baz\u0131 hastal\u0131klarla benzer klinik tablolara yol a\u00e7abilece\u011fini vurgulayarak, \u201cD\u00fcnya genelinde nadir hastal\u0131klar\u0131n toplumda g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 10\u2019da 1, \u00e7e\u015fitli rahats\u0131zl\u0131klarla polikliniklere ba\u015fvuran hastalar i\u00e7in de 5\u2019te 1. Bu oran\u0131n T\u00fcrkiye\u2019de bir miktar daha fazla oldu\u011fundan endi\u015fe ediyoruz, \u00e7\u00fcnk\u00fc baz\u0131 nadir hastal\u0131klar akraba evliliklerinde daha fazla g\u00f6r\u00fcl\u00fcyor.\u201d bilgisini payla\u015ft\u0131.<\/p>\n
\u015eu anda d\u00fcnya genelinde bilinen 8 bin \u00e7e\u015fit nadir hastal\u0131\u011f\u0131n bulundu\u011funa ve her y\u0131l y\u00fczlerce yeni nadir hastal\u0131\u011f\u0131n tan\u0131mland\u0131\u011f\u0131na dikkati \u00e7eken Ceylaner, \u201cT\u00fcrkiye\u2019de Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131\u2019n\u0131n bildirdi\u011fi tahmini verilere g\u00f6re, nadir hastal\u0131k ta\u015f\u0131yan 7 milyon civar\u0131nda ki\u015fi var. Avrupa\u2019da ise bu rakam\u0131n 50 milyonun \u00fczerinde oldu\u011fu tahmin ediliyor.\u201d diye konu\u015ftu.<\/p>\n
\u201cKANSERLER\u0130N Y\u00dcZDE 15\u2019\u0130 A\u0130LESEL\u201d<\/strong><\/p>\n Prof. Dr. Ceylaner, ailesel kanserlerin b\u00fct\u00fcn kanserlerin y\u00fczde 15\u2019ini olu\u015fturdu\u011funu ve bu hastal\u0131klar\u0131n da arka plan\u0131nda nadir hastal\u0131k \u00f6zelli\u011fi ta\u015f\u0131d\u0131\u011f\u0131n\u0131 anlatt\u0131.<\/p>\n Ailesel kanserlerin daha erken ya\u015fta ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131, tedavi ve takip s\u00fcre\u00e7lerinin farkl\u0131 oldu\u011funu dile getiren Ceylaner, s\u00f6zlerini \u015f\u00f6yle s\u00fcrd\u00fcrd\u00fc:<\/p>\n *Her kanserin ailesel y\u00f6n\u00fc olabilir, en \u00e7ok g\u00f6r\u00fclen ise meme kanseri. Y\u00fczlerce ailesel kanser, meme kanserine yol a\u00e7abiliyor.<\/p>\n *Mesela ayn\u0131 genetik hastal\u0131k, ailede bir ki\u015fide l\u00f6semi, di\u011ferinde meme kanseri ve bir ba\u015fka aile \u00fcyesinde ise beyin t\u00fcm\u00f6r\u00fcne neden olabiliyor.<\/p>\n *Yani genetik durum nedeniyle tek tip kansere yol a\u00e7ma ihtimali oldu\u011fu gibi bu \u015fekilde \u00e7oklu durumlarla da kar\u015f\u0131la\u015fabiliyoruz.<\/p>\n Ceylaner, \u00e7ocuklarda \u00f6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fc probleminin alt\u0131nda da baz\u0131 genetik fakt\u00f6rlerin yatabilece\u011fi uyar\u0131s\u0131nda bulundu.<\/p>\n \u00d6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fcnde \u00e7ok a\u011f\u0131r zihinsel, bili\u015fsel gerili\u011fi olan \u00e7ocuklar oldu\u011fu gibi sadece okulda ufak tefek ba\u015far\u0131 sorunlar\u0131 ya\u015fayanlar\u0131n da bulundu\u011funu anlatan Ceylaner, \u201c\u00d6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fcnde 2 ana grup var. Birinde genetik ana ve tek etken, di\u011ferinde yard\u0131mc\u0131 etken. Her iki durumda da genetik ve nadir hastal\u0131klarla ilgili etkenler ortaya konabiliyor.\u201d dedi.<\/p>\n \u00d6ks\u00fcr\u00fc\u011f\u00fcn sin\u00fczit, bron\u015fit ve akci\u011fer kanseri bir\u00e7ok sebeple ortaya \u00e7\u0131kabilece\u011fine ve tedavisinin farkl\u0131 olaca\u011f\u0131na i\u015faret eden Ceylaner, \u201cBenzer durum \u00f6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fcnde de s\u00f6z konusu. Hastada ba\u015far\u0131 sa\u011flanacak y\u00f6ntemler birbirinden farkl\u0131. Mesela baz\u0131 kas hastal\u0131klar\u0131nda fizik tedavi yo\u011fun uyguland\u0131\u011f\u0131nda ba\u015far\u0131l\u0131 oluyor ama kimi hastada da aksine kaslara zarar veriyor. Hastal\u0131\u011f\u0131n detay\u0131na bu nedenle \u00f6nem veriyoruz. Erken tan\u0131 hastalar\u0131n bir \u00e7o\u011funun hayat kalitesini de\u011fi\u015ftiriyor.\u201d diye konu\u015ftu.<\/p>\n ERKEN YA\u015eTA ORTAYA \u00c7IKAN HASTALIKLARA D\u0130KKAT<\/strong><\/p>\n Prof. Dr. Serdar Ceylaner, genetik tan\u0131lar\u0131n bir ailenin ayn\u0131 hastal\u0131kla tekrar kar\u015f\u0131la\u015fmamas\u0131 a\u00e7\u0131s\u0131ndan da \u00f6nemli oldu\u011funu vurgulayarak, bu s\u00fcre\u00e7te gebelik esnas\u0131nda erken te\u015fhis, anne karn\u0131nda te\u015fhis ve tedavi ile hamilelikte PGT ad\u0131 verilen t\u00fcp bebek y\u00f6ntemleri sayesinde olas\u0131 genetik hastal\u0131klar\u0131n \u00f6n\u00fcne ge\u00e7ilebildi\u011fini an\u0131msatt\u0131.<\/p>\n Ceylaner, \u015funlar\u0131 kaydetti:<\/p>\n *Bir kronik hastal\u0131k tan\u0131s\u0131 al\u0131nm\u0131\u015fsa veya normalde meme kanseri, kalp krizi gibi ileri ya\u015fta g\u00f6r\u00fclmesi beklenen bir hastal\u0131k \u00e7ok erken ya\u015fta ortaya \u00e7\u0131kt\u0131ysa bu genetik hastal\u0131k bulgusudur.<\/p>\n *Ayr\u0131ca bir hastal\u0131kta herkese yap\u0131lan tedavi yap\u0131ld\u0131 ama ba\u015far\u0131s\u0131z olunduysa, yan etki, komplikasyonlar geli\u015ftiyse bu da \u00f6nemli bir i\u015farettir.<\/p>\n *Gebelik sorunlar\u0131n\u0131n bir\u00e7o\u011fu, baz\u0131 kanserler, \u00e7ocuklardaki \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri ve hayat boyu s\u00fcren hastal\u0131klar\u0131n da \u00e7ok b\u00fcy\u00fck bir b\u00f6l\u00fcm\u00fc genetik k\u00f6kenli hastal\u0131klard\u0131r.<\/p>\n Ailede ayn\u0131 hastal\u0131k veya benzer hastal\u0131k birden fazla ki\u015fide olanlara bir genetik merkezine ba\u015fvurmalar\u0131n\u0131 ve sebebinin bu yolla belirlenmesini \u00f6neriyoruz. Aileler bazen bu durumu \u2018talihsizlik\u2019 gibi de\u011ferlendiriyor ama ad\u0131n\u0131 koymak, ili\u015fkiyi belirleyip, tam sebebini \u00f6\u011frenmek \u00e7ok \u00f6nemli. Bazen ayr\u0131 hastal\u0131klar da olabilir elbette ama bu belirsizli\u011fi gidermek a\u00e7\u0131s\u0131ndan \u00f6nem ta\u015f\u0131yor.\u201d<\/p>\n Genetik taramalar\u0131n ve hastal\u0131klar\u0131n hi\u00e7 ortaya \u00e7\u0131kmadan veya erken d\u00f6nemde tespit edilmesinin sadece ki\u015filerin mutlulu\u011fu de\u011fil \u00fclke ekonomisine de ciddi katk\u0131 sa\u011flad\u0131\u011f\u0131n\u0131 vurgulayan Ceylaner, bu s\u00fcre\u00e7te koruyucu hekimli\u011fin s\u00fcrecin en \u00f6nemli aya\u011f\u0131 oldu\u011funu dile getirdi.<\/p>\n Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131nca, evlenecek \u00e7iftlere ve topuk kan\u0131 taramalar\u0131nda yap\u0131lan SMA, Akdeniz Anemisi, Kistik Fibrozis, Fenilketon\u00fcri gibi genetik hastal\u0131k taramalar\u0131n\u0131n b\u00fcy\u00fck \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 anlatan Ceylaner, \u015fu de\u011ferlendirmelerde bulundu:<\/p>\n *\u015eu an baz\u0131 \u00fclkelerde binlerce genetik hastal\u0131\u011f\u0131 i\u00e7ine alan tarama protokolleri geli\u015ftirildi. \u00dclkemizde de her \u00e7e\u015fit nadir hastal\u0131\u011f\u0131 maalesef \u00e7ok s\u0131k g\u00f6rd\u00fc\u011f\u00fcm\u00fcz i\u00e7in evlenecek \u00e7iftlere binlerce hastal\u0131\u011f\u0131 i\u00e7eren geni\u015f taramalar\u0131n yap\u0131lmas\u0131 \u00e7ok \u00f6nemli.<\/p>\n *\u00d6zellikle akraba evlili\u011fi yapm\u0131\u015f ve yapacak olan \u00e7iftlerin bu geni\u015f taramalar\u0131 yapt\u0131rmas\u0131 risklerini \u00f6nemli \u00f6l\u00e7\u00fcde azalt\u0131yor.<\/p>\n *Ayr\u0131ca d\u00fcnya \u00fczerinde yap\u0131lan \u00e7al\u0131\u015fmalara g\u00f6re, genetik taramalar hastal\u0131\u011f\u0131n bak\u0131m maliyetinin 8\u2019de 1\u2019i veya daha ucuza mal oluyor.<\/p>\n *Yani taramalar sayesinde hem hastal\u0131k riski azalt\u0131l\u0131p ailelerin mutlulu\u011fu sa\u011flan\u0131yor hem de \u00fclke ekonomisine katk\u0131da bulunuluyor. (AA)<\/p>\n","protected":false},"excerpt":{"rendered":" Prof. Dr. Serdar Ceylaner, T\u00fcrkiye’de yakla\u015f\u0131k 7 milyon ki\u015fide nadir hastal\u0131k bulundu\u011funu belirterek, “Baz\u0131 kanserler, \u00e7ocuklardaki \u00f6\u011frenme …<\/p>\n","protected":false},"author":1,"featured_media":42337,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[30],"tags":[955,7948,181,1109,7564],"class_list":["post-42336","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-saglik","tag-bazi","tag-genetik","tag-hastalik","tag-onem","tag-tarama"],"_links":{"self":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/42336","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=42336"}],"version-history":[{"count":1,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/42336\/revisions"}],"predecessor-version":[{"id":42338,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/42336\/revisions\/42338"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/media\/42337"}],"wp:attachment":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=42336"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=42336"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=42336"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}