Etlik \u015eehir Hastanesi \u00c7ocuk Metabolizma Hastal\u0131klar\u0131 Klini\u011fi E\u011fitim ve \u0130dari Sorumlusu Do\u00e7. Dr. Asbur\u00e7e Olga\u00e7 K\u0131l\u0131\u00e7kaya, 1 Haziran Ulusal Fenilketan\u00fcri G\u00fcn\u00fc dolay\u0131s\u0131yla AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, bunun genetik ge\u00e7i\u015fli, metabolik bir hastal\u0131k oldu\u011funu anlatt\u0131.<\/p>\n
PKU’nun bir protein yap\u0131ta\u015f\u0131, amino asit olan fenilalanin v\u00fccutta d\u00f6n\u00fc\u015ft\u00fcr\u00fclememesi ve kanda birikmesi sonucu ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 belirten K\u0131l\u0131\u00e7kaya, hastal\u0131kla d\u00fcnyaya gelen bebeklerin ba\u015flang\u0131\u00e7ta herhangi bir belirti g\u00f6stermedi\u011fini s\u00f6yledi.<\/p>\n
![\"\"](\"https:\/\/www.aa.com.tr\/uploads\/userFiles\/4f62407a-abf2-4464-9690-b6acbca575b5\/07_2024%2F04_MAYIS%2F20240601_2_64124937_101546696.jpg\"\/)
<\/p>\n
Do\u00e7. Dr. K\u0131l\u0131\u00e7kaya, “\u015eayet bebek erken d\u00f6nemde tan\u0131 almaz ve tedaviye ba\u015flanmazsa ilerleyen zamanda beyin geli\u015fiminin etkilendi\u011fi ciddi problemler ortaya \u00e7\u0131k\u0131yor. Y\u00fcr\u00fcme, oturma, konu\u015fma gerili\u011fi, ba\u015f\u0131n\u0131 tutamama, ba\u015f \u00e7evresi k\u00fc\u00e7\u00fckl\u00fc\u011f\u00fc, davran\u0131\u015f problemleri gibi durumlarla kar\u015f\u0131la\u015f\u0131l\u0131yor.” ifadesini kulland\u0131.<\/p>\n
Ya\u015fam boyu diyet tedavisi<\/h3>\n
PKU’da fenilalaninin v\u00fccutta d\u00fc\u015f\u00fck oranda kalmas\u0131 i\u00e7in \u00f6zel diyet tedavileri, mamalar\u0131n kullan\u0131ld\u0131\u011f\u0131n\u0131, hayvansal g\u0131dalar\u0131n k\u0131s\u0131tland\u0131\u011f\u0131n\u0131, baz\u0131 hastalarda ila\u00e7 tedavilerinin de devreye al\u0131nd\u0131\u011f\u0131n\u0131 aktaran K\u0131l\u0131\u00e7kaya, “Aksi durumda \u00e7ok ciddi zeka etkilenmeleri ya\u015fan\u0131yor.” diye konu\u015ftu.<\/p>\n
![\"\"](\"https:\/\/www.aa.com.tr\/uploads\/userFiles\/4f62407a-abf2-4464-9690-b6acbca575b5\/07_2024%2F04_MAYIS%2F20240601_2_64124937_101546694.jpg\"\/)
<\/p>\n
K\u0131l\u0131\u00e7kaya, hen\u00fcz kesin tedavisi olmayan hastal\u0131\u011fa ili\u015fkin d\u00fcnya genelinde gen tedavi \u00e7al\u0131\u015fmalar\u0131n\u0131 da i\u00e7ine alan geni\u015f kapsaml\u0131, \u00fcmit vadeden \u00e7al\u0131\u015fmalar\u0131n y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcne dikkati \u00e7ekti.<\/p>\n
“Her fenilalanin y\u00fcksekli\u011fi hastal\u0131k oldu\u011fu anlam\u0131na gelmiyor”<\/h3>\n
Kandaki fenilalanin y\u00fcksekli\u011finin hastal\u0131\u011f\u0131n tan\u0131s\u0131 a\u00e7\u0131s\u0131ndan \u00f6nemli bir kriter oldu\u011funu ve bu durumun topuk kan\u0131 taramalar\u0131nda tespit edildi\u011fini belirten K\u0131l\u0131\u00e7kaya, \u015f\u00f6yle devam etti:<\/p>\n
“Ancak her fenilalanin y\u00fcksekli\u011fi hastal\u0131k oldu\u011fu anlam\u0131na gelmiyor. Klasik fenilketan\u00fcri dedi\u011fimiz, a\u011f\u0131r zeka gerili\u011fini de i\u00e7eren ciddi klinik bulgular\u0131 g\u00f6rd\u00fc\u011f\u00fcm\u00fcz durumlarda kandaki fenilalanin d\u00fczeyinde \u00e7ok ciddi y\u00fckseklik oluyor. Bizim m\u00fcdahale etti\u011fimiz, diyet uygulad\u0131\u011f\u0131m\u0131z de\u011fer 6 miligram desilitre ve \u00fcst\u00fc. Topuk kan\u0131 taramalar\u0131nda bazen \u00fcst s\u0131n\u0131r\u0131 ge\u00e7en, 2 miligram desilitre ve \u00fczerinde de\u011fere sahip bebekler oluyor. Bu bebeklerin de merkezlerimizde d\u00fczenli takip ve kontrolleri yap\u0131l\u0131yor.”<\/p>\n
“Hastal\u0131k belirtileri ortaya \u00e7\u0131kt\u0131\u011f\u0131nda i\u015f i\u015ften ge\u00e7iyor”<\/h3>\n
Topuk kan\u0131 taramalar\u0131nda PKU saptanan ve erken d\u00f6nemde tedavisine ba\u015flanan bebeklerde zeka gerili\u011fi, beyin hasar\u0131 gibi olumsuz etkilerin ortaya \u00e7\u0131kmad\u0131\u011f\u0131n\u0131 vurgulayan K\u0131l\u0131\u00e7kaya, \u015funlar\u0131 kaydetti:<\/p>\n
“Fenilketan\u00fcri hastas\u0131 bebekler do\u011fdu\u011funda belirti g\u00f6stermiyor. Hastal\u0131k belirtileri ortaya \u00e7\u0131kt\u0131\u011f\u0131nda ise ne yaz\u0131k ki i\u015f i\u015ften ge\u00e7mi\u015f oluyor. Zeka gerili\u011fi gibi n\u00f6rolojik problemleri geriye d\u00f6nd\u00fcrmek m\u00fcmk\u00fcn de\u011fil. Bu nedenle, bebeklerin erken d\u00f6nemde taranmas\u0131 ve klinik belirtiler ortaya \u00e7\u0131kmadan tedavi edilmeleri \u00e7ok \u00f6nemli, b\u00f6ylelikle hastal\u0131\u011f\u0131n istenmeyen bulgular\u0131n\u0131n ortaya \u00e7\u0131kmas\u0131 engelleniyor.”<\/p>\n
T\u00fcrkiye’de y\u0131lda 250-300 bebek PKU ile do\u011fuyor<\/h3>\n
PKU’nun d\u00fcnyada da T\u00fcrkiye’de de s\u0131k g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fcn alt\u0131n\u0131 \u00e7izen K\u0131l\u0131\u00e7kaya, akraba evlili\u011finin hastal\u0131\u011f\u0131n g\u00f6r\u00fclme oranlar\u0131n\u0131 art\u0131rd\u0131\u011f\u0131n\u0131 ifade etti.<\/p>\n
Do\u00e7. Dr. K\u0131l\u0131\u00e7kaya, “\u00dclkemizde yakla\u015f\u0131k her 25 ki\u015fiden 1’i fenilketon\u00fcri hastal\u0131\u011f\u0131 i\u00e7in ta\u015f\u0131y\u0131c\u0131. Hastal\u0131\u011f\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 da 4 binde 1 yani yakla\u015f\u0131k her 4 bin ki\u015fiden 1’i fenilalanin y\u00fcksekli\u011fine sahip. \u00dclkemizde y\u0131lda yakla\u015f\u0131k 250-300 bebe\u011fin fenilketan\u00fcri hastas\u0131 olarak do\u011fdu\u011fu tahmin ediliyor.” dedi.<\/p>\n
![\"\"](\"https:\/\/www.aa.com.tr\/uploads\/userFiles\/4f62407a-abf2-4464-9690-b6acbca575b5\/07_2024%2F04_MAYIS%2F20240601_2_64124937_101546697.jpg\"\/)
<\/p>\n
K\u0131l\u0131\u00e7kaya, ta\u015f\u0131y\u0131c\u0131 olan anne ve baban\u0131n herhangi bir hastal\u0131k belirtisi g\u00f6stermedi\u011fini, ama ta\u015f\u0131y\u0131c\u0131 olan \u00e7iftlerin bebeklerinde y\u00fczde 25 ihtimalle PKU’nun g\u00f6r\u00fcld\u00fc\u011f\u00fcn\u00fc dile getirdi.<\/p>\n
“Topuk kan\u0131 taramalar\u0131n\u0131n reddiyle artan oranlarda kar\u015f\u0131la\u015f\u0131yoruz”<\/h3>\n
Topuk kan\u0131 taramalar\u0131yla PKU ile birlikte SMA, konjenital hipotiroidizm, biyotinidaz eksikli\u011fi, kistik fibrozis ve konjenital adrenal hiperplazi gibi genetik hastal\u0131klar\u0131n da tespit edildi\u011fine dikkati \u00e7eken K\u0131l\u0131\u00e7kaya, Ulusal Yenido\u011fan Tarama Program\u0131 kapsam\u0131nda do\u011fan her bebekten ilk 48 saat i\u00e7inde topuk kan\u0131 al\u0131nd\u0131\u011f\u0131n\u0131 an\u0131msatt\u0131.<\/p>\n
Herhangi bir atlanma ihtimaline kar\u015f\u0131 bu taraman\u0131n ilk birinci haftan\u0131n sonunda da tekrarlanmas\u0131 gerekti\u011fini vurgulayan K\u0131l\u0131\u00e7kaya, ailelere \u015fu uyar\u0131larda bulundu:<\/p>\n
“G\u00fcn\u00fcm\u00fczde ne yaz\u0131k ki topuk kan\u0131 taramalar\u0131n\u0131n reddiyle artan oranlarda kar\u015f\u0131la\u015f\u0131yoruz. Sosyal medyada baz\u0131 yanl\u0131\u015f bilgilendirmelerin etkisiyle ailelerin bu karar\u0131 ald\u0131klar\u0131n\u0131 g\u00f6r\u00fcyoruz ama bunlar\u0131n hi\u00e7bir bilimsel dayana\u011f\u0131 yok.<\/p>\n
Topuk kan\u0131 reddi, erken tan\u0131yla tamamen sa\u011fl\u0131kl\u0131 bir ya\u015fam s\u00fcrd\u00fcrebilecek bebeklerin, olas\u0131 hastal\u0131k tan\u0131s\u0131n\u0131n atlanmas\u0131na, kal\u0131c\u0131 zeka gerili\u011fi gibi asla geri d\u00f6nd\u00fcr\u00fclemeyecek problemlerle kar\u015f\u0131 kar\u015f\u0131ya kalmalar\u0131na yol a\u00e7\u0131yor. Bu nedenle b\u00fct\u00fcn ailelerimize topuk kan\u0131 taramalar\u0131 konusunda duyarl\u0131 olmalar\u0131n\u0131 ve hekimlerinin \u00e7a\u011fr\u0131lar\u0131na uymalar\u0131n\u0131 rica ediyorum.”<\/p>\n