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<\/div>\n\u00a0K\u0131br\u0131s T\u00fcrk Tabipleri Birli\u011fi (KTTB), K\u0131br\u0131s T\u00fcrk Pediatri Kurumu ve Evrensel Hasta Haklar\u0131 Derne\u011fi-Nadir Hastal\u0131klar A\u011f\u0131 i\u015f birli\u011fiyle \u201cNadir Hastal\u0131klar Sempozyumu\u201d d\u00fczenlendi.<\/p>\n
KTTB\u2019den yap\u0131lan a\u00e7\u0131klamaya g\u00f6re,\u00a0KTTB Dr. Mustafa Hami Konferans Salonu\u2019nda yer alan sempozyuma;\u00a0alan\u0131nda uzman doktorlar, akademisyenler ve sa\u011fl\u0131k \u00e7al\u0131\u015fanlar\u0131 kat\u0131ld\u0131. Cuma g\u00fcn\u00fc ger\u00e7ekle\u015ftirilen sempozyumda, nadir hastal\u0131klarla ilgili mevcut durum, erken te\u015fhis ve tedaviye eri\u015fim konular\u0131 ele al\u0131nd\u0131.<\/p>\n
Sempozyumun a\u00e7\u0131l\u0131\u015f konu\u015fmas\u0131n\u0131 yapan KTTB Ba\u015fkan\u0131 Prof. Dr. Ceyhun Dalkan, nadir hastal\u0131klar\u0131n sadece bireysel vakalar olarak g\u00f6r\u00fclmemesi gerekti\u011fini, sa\u011fl\u0131k sisteminin \u00f6nemli bir par\u00e7as\u0131 oldu\u011funu vurgulad\u0131. Dalkan, erken tan\u0131 ve tedaviye eri\u015fimin anayasal bir hak oldu\u011funu belirterek, \u00f6zellikle yenido\u011fan metabolik-endokrin tarama programlar\u0131n\u0131n \u00fccretsiz olarak sa\u011flanamamas\u0131n\u0131n b\u00fcy\u00fck bir eksiklik oldu\u011funa dikkat \u00e7ekti.<\/p>\n
AB hibesiyle temin edilmesi planlanan cihazlar\u0131n hen\u00fcz al\u0131nmamas\u0131 nedeniyle bu program\u0131n hayata ge\u00e7irilemedi\u011fini belirten Dalkan, bunun \u00f6zellikle dar gelirli aileler i\u00e7in b\u00fcy\u00fck bir ekonomik y\u00fck olu\u015fturdu\u011funu ifade etti. Dalkan, basit bir testle \u00f6nlenebilecek hastal\u0131klar\u0131n te\u015fhis edilememesi nedeniyle \u00e7ocuklar\u0131n hayatlar\u0131 boyunca ciddi sa\u011fl\u0131k sorunlar\u0131 ya\u015fama riskiyle kar\u015f\u0131 kar\u015f\u0131ya kald\u0131\u011f\u0131n\u0131 s\u00f6yledi. Genetik tarama testlerine eri\u015fimde ya\u015fanan s\u0131k\u0131nt\u0131lar\u0131 da vurgulayan Dalkan, KTTB olarak bu konuda yetkililerle i\u015f birli\u011fi i\u00e7inde \u00e7al\u0131\u015fmaya devam edeceklerini belirtti.<\/p>\n
Evrensel Hasta Haklar\u0131 Derne\u011fi Asba\u015fkan\u0131 Emete \u0130mge de, d\u00f6rt y\u0131l \u00f6nce ba\u015flat\u0131lan \u00e7al\u0131\u015fmalar kapsam\u0131nda Nadir G\u00f6r\u00fclen Hastal\u0131klar A\u011f\u0131n\u0131n olu\u015fumuna destek verdiklerini s\u00f6yledi. \u00dclkede 208 farkl\u0131 nadir hastal\u0131k te\u015fhisi alan 142 bireyin ya\u015fad\u0131\u011f\u0131n\u0131 belirten \u0130mge, bu bireylerin \u00e7o\u011funun tan\u0131 koyulmas\u0131 i\u00e7in y\u0131llarca bekledi\u011fini ve \u00e7ok say\u0131da hekime ba\u015fvurmak zorunda kald\u0131\u011f\u0131n\u0131 ifade etti.<\/p>\n
\u0130mge, akraba evlilikleri ve genetik hastal\u0131klar\u0131n art\u0131\u015f\u0131yla birlikte, tarama testlerinin kamu taraf\u0131ndan \u00fccretsiz sunulmas\u0131 gerekti\u011fini vurgulad\u0131. \u0130mge, Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131 taraf\u0131ndan kar\u015f\u0131lanmayan topuk kan\u0131 taramas\u0131 ve genetik hastal\u0131k ta\u015f\u0131y\u0131c\u0131l\u0131k testlerinin ebeveynlerin inisiyatifine b\u0131rak\u0131lmas\u0131n\u0131n b\u00fcy\u00fck bir eksiklik oldu\u011funa dikkat \u00e7ekti. Bu testlerin kamu sa\u011fl\u0131k hizmetleri kapsam\u0131na al\u0131nmas\u0131 ve t\u0131bbi genetik uzman\u0131 kadrosu i\u00e7in b\u00fct\u00e7e ayr\u0131lmas\u0131 gerekti\u011fini ifade eden \u0130mge, koruyucu sa\u011fl\u0131k hizmetlerine yat\u0131r\u0131m yap\u0131lmas\u0131n\u0131n hem bireylerin ya\u015fam kalitesini art\u0131raca\u011f\u0131n\u0131 hem de sa\u011fl\u0131k b\u00fct\u00e7esi \u00fczerindeki y\u00fck\u00fc azaltaca\u011f\u0131n\u0131 belirtti.<\/p>\n
K\u0131br\u0131s T\u00fcrk Pediatri Kurumu Asba\u015fkan\u0131 Dr. Figen G\u00fclen \u0130nce, a\u00e7\u0131l\u0131\u015fta yapt\u0131\u011f\u0131 konu\u015fmada, nadir hastal\u0131klarla m\u00fccadelede erken te\u015fhisin hayati \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 belirterek, yenido\u011fan tarama testlerinin devlet taraf\u0131ndan t\u00fcm \u00e7ocuklara \u00fccretsiz olarak sunulmas\u0131 gerekti\u011fini vurgulad\u0131.<\/p>\n
Dr. \u0130nce, \u00e7ocuk hekimli\u011finde koruyucu hekimli\u011fin b\u00fcy\u00fck bir rol\u00fc oldu\u011funu belirterek, erken te\u015fhis ve m\u00fcdahale ile bir\u00e7ok genetik ve metabolik hastal\u0131\u011f\u0131n \u00f6nlenebilece\u011fini ifade etti. \u0130nce, \u201cD\u00fcnyan\u0131n bir\u00e7ok \u00fclkesinde kamu sa\u011fl\u0131\u011f\u0131 hizmetleri kapsam\u0131nda sunulan bu testlerin, K\u0131br\u0131s\u2019\u0131n kuzeyinde de her \u00e7ocu\u011fa e\u015fit \u015fekilde ula\u015ft\u0131r\u0131lmas\u0131 gerekmektedir. Bu, sadece bireylerin de\u011fil, toplum sa\u011fl\u0131\u011f\u0131n\u0131n korunmas\u0131 a\u00e7\u0131s\u0131ndan da kritik bir ad\u0131md\u0131r.\u201d dedi.<\/p>\n
K\u0131br\u0131s T\u00fcrk Pediatri Kurumu olarak, yenido\u011fan tarama programlar\u0131n\u0131n kamusal sa\u011fl\u0131k sistemine entegre edilmesi gerekti\u011fini belirten \u0130nce, bu testlerin eri\u015filebilir hale getirilmesi i\u00e7in yetkilileri harekete ge\u00e7meye \u00e7a\u011f\u0131rd\u0131. \u0130nce, \u201c\u00d6nleyici sa\u011fl\u0131k hizmetlerine yap\u0131lacak yat\u0131r\u0131mlar, hem \u00e7ocuklar\u0131n sa\u011fl\u0131kl\u0131 bir gelece\u011fe sahip olmas\u0131n\u0131 sa\u011flayacak hem de sa\u011fl\u0131k b\u00fct\u00e7esine uzun vadede katk\u0131 sunacakt\u0131r.\u201d ifadelerini kulland\u0131.<\/p>\n
A\u00e7\u0131l\u0131\u015f konu\u015fmalar\u0131n\u0131n ard\u0131ndan, K\u0131br\u0131s\u2019\u0131n kuzeyindeki nadir hastal\u0131klar\u0131n durumu hakk\u0131nda Do\u00e7. Dr. Mahmut \u00c7erkez Erg\u00f6ren sunum yapt\u0131.<\/p>\n
YD\u00dc Hastanesi\u2019nde son bir y\u0131lda tespit edilen nadir hastal\u0131k say\u0131s\u0131 ve hasta say\u0131s\u0131 art\u0131\u015f g\u00f6sterdi\u011fini vurgulayan Erg\u00f6ren, ge\u00e7en y\u0131l 126 hastada 95 farkl\u0131 nadir hastal\u0131k belirlenirken, bu y\u0131l 168 hastada 148 hastal\u0131k tespit edildi\u011fini s\u00f6yledi. Nadir hastal\u0131klar\u0131n en \u00f6nemli nedenlerinden biri akraba evlilikleri olarak g\u00f6sterildi\u011fini hat\u0131rlatan Erg\u00f6ren, yapm\u0131\u015f oldu\u011fu sunumda, ge\u00e7en y\u0131l y\u00fczde 18 olan akraba evliliklerinden kaynakl\u0131 nadir hastal\u0131k oran\u0131 bu y\u0131l y\u00fczde 33\u2019e y\u00fckseldi\u011fini kaydetti. Erg\u00f6ren, bu durumun \u00f6zellikle toplum yap\u0131s\u0131ndaki de\u011fi\u015fimle ilgili oldu\u011funu vurgulad\u0131.<\/p>\n
Erken te\u015fhisin ve \u00f6zellikle gebelik \u00f6ncesi ta\u015f\u0131y\u0131c\u0131l\u0131k testlerinin \u00f6nemine dikkat \u00e7eken Do\u00e7. Dr. Erg\u00f6ren, Kuzey K\u0131br\u0131s\u2019ta do\u011fan bebekler i\u00e7in yap\u0131lan topuk kan\u0131 testinin devlet taraf\u0131ndan kar\u015f\u0131lanmad\u0131\u011f\u0131n\u0131 ve bu durumun ailelerin inisiyatifine b\u0131rak\u0131ld\u0131\u011f\u0131n\u0131 kaydetti. Erg\u00f6ren, bu testin yayg\u0131nla\u015ft\u0131r\u0131lmas\u0131 halinde baz\u0131 hastal\u0131klar\u0131n \u00f6nceden tespit edilerek tedavi s\u00fcrecinin erkenden ba\u015flat\u0131labilece\u011fini belirtti.<\/p>\n
Evrensel Hasta Haklar\u0131 Derne\u011fi\u2019nin\u00a0 bir hibe program\u0131 kapsam\u0131nda ald\u0131\u011f\u0131 fonla dezavantajl\u0131 gruplar\u0131n hak izleme kapasitesinin art\u0131r\u0131lmas\u0131yla ilgili ve K\u0131br\u0131s\u2019\u0131n kuzeyinde artan genetik k\u00f6kenli nadir hastal\u0131klar\u0131n izlenmesine dair rapor haz\u0131rlayan Do\u00e7. Dr. Erg\u00f6ren,\u00a0 genetik hastal\u0131klarla ilgili fark\u0131ndal\u0131\u011f\u0131n d\u00fc\u015f\u00fck oldu\u011funu ortaya koydu.<\/p>\n
Sempozyumda, konu\u015fmalar\u0131n ard\u0131ndan, nadir hastal\u0131klarla ilgili bir\u00e7ok bilimsel sunum ger\u00e7ekle\u015ftirildi.<\/p>\n
Prof. Dr. Beyhan T\u00fcys\u00fcz, \u201cGenetik Hastal\u0131klarda Hangi Testi Se\u00e7meliyim?\u201d konusunu ele ald\u0131. T\u00fcys\u00fcz, \u00f6zellikle g\u00fcncel, yeni test y\u00f6ntemleri ve klinik ba\u011flant\u0131lar\u0131ndan bahsetti.<\/p>\n
\u00c7ocuk Yo\u011fun Bak\u0131m Uzman\u0131, Uzm. Dr. Hakan Tekg\u00fc\u00e7 ise, \u201cPediatrik Yo\u011fun Bak\u0131m \u00dcnitesinde Nadir Hastal\u0131klarda K\u0131br\u0131s\u2019\u0131n Kuzeyi Deneyimi\u201d ba\u015fl\u0131kl\u0131 sunumunda, \u00f6zellikle kar\u015f\u0131la\u015ft\u0131\u011f\u0131 nadir hastal\u0131klardan bahsetti.<\/p>\n
Sempozyumun 2. oturumda Prof. Dr. G\u00f6zde Ye\u015fil Say\u0131n,\u00a0 \u201cNadir Hastal\u0131klar\u0131n Erken Tan\u0131s\u0131nda Yenido\u011fan Tarama Programlar\u0131\u201d konusuna de\u011findi.<\/p>\n
Yenido\u011fan uzman\u0131, Uzm. Dr. Seyhan Eri\u015fir Oygucu, \u201cK\u0131br\u0131s\u2019\u0131n Kuzeyinde Yenido\u011fan D\u00f6neminde G\u00f6r\u00fclen Nadir Hastal\u0131klar\u201d hakk\u0131nda bilgi verdi.<\/p>\n
\u00c7ocuk Endokrin ve Metabolizma uzman\u0131, Uzm. Dr. Keziban Toksoy Ad\u0131g\u00fczel ise, \u201cPediatrik Endokrinolojide G\u00f6r\u00fclen Nadir Vakalar\u201d \u00fczerine sunum yapt\u0131.<\/p>\n<\/p><\/div>\n