\u201c1 Haziran Ulusal Fenilketon\u00fcri G\u00fcn\u00fc\u201d<\/p>\n
\u00a0Prof. Dr. \u00c7oker, \u201cFenilketon\u00fcri hastal\u0131\u011f\u0131nda erken tan\u0131 ve tedavi olmazsa kal\u0131c\u0131 hasarlar olu\u015fur\u201d<\/b><\/p>\n
Kal\u0131tsal bir metabolik hastal\u0131k olan Fenilketon\u00fcri\u2019ye dikkat \u00e7ekmek ve fark\u0131ndal\u0131k olu\u015fturmak amac\u0131yla her y\u0131l 1 Haziran \u201cUlusal Fenilketon\u00fcri G\u00fcn\u00fc\u201d olarak kutlan\u0131yor.\u00a0 Fenilketon\u00fcri hastal\u0131\u011f\u0131 ile ilgili a\u00e7\u0131klamalarda bulunan Ege \u00dcniversitesi T\u0131p Fak\u00fcltesi \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Anabilim Dal\u0131 Pediatrik, Metabolizma-Beslenme Bilim Dal\u0131 Ba\u015fkan\u0131 Prof. Dr. Mahmut \u00c7oker, \u201cToplum sa\u011fl\u0131\u011f\u0131 a\u00e7\u0131s\u0131ndan \u00e7ok \u00f6nemli bir hastal\u0131k olan fenilketon\u00fcri hakk\u0131nda toplumun bilin\u00e7 d\u00fczeyini y\u00fckseltmek, fenilketon\u00fcri hastal\u0131\u011f\u0131 ile ya\u015famlar\u0131n\u0131 s\u00fcrd\u00fcren \u00e7ocuk ve eri\u015fkinler ile ailelerinin ya\u015fad\u0131klar\u0131 sorunlar\u0131n \u00e7\u00f6z\u00fcm\u00fcne katk\u0131da bulunmak ve onlarla dayan\u0131\u015fma i\u00e7inde olmak olduk\u00e7a \u00f6nemli\u201d dedi.<\/p>\n
Fenilketon\u00fcri hastal\u0131\u011f\u0131n\u0131n olu\u015fum s\u00fcrecinden bahseden Prof. Dr. \u00c7oker, \u201cProteinler, amino asit ad\u0131 verilen molek\u00fcllerin zincir olu\u015fturacak \u015fekilde bir araya gelmeleri ile olu\u015fmu\u015ftur. Her proteinin amino asit i\u00e7erikleri ve b\u00fcy\u00fckl\u00fckleri farkl\u0131l\u0131k g\u00f6sterir. Temel kaynak g\u0131dalarla al\u0131nan, hayvansal ve bitkisel kaynakl\u0131 proteinlerdir.\u00a0 Proteinli g\u0131dalar yiyeceklerle al\u0131nd\u0131ktan sonra a\u011f\u0131zda ba\u015flayan ve gastrointestinal sistemde ( mide \u2013 barsak ) devam eden sindirme i\u015flemi ile amino asitlere kadar par\u00e7alan\u0131r. Her amino asite \u00f6zg\u00fc ayr\u0131 bir metabolik yolak vard\u0131r, yani amino asitlerin her biri, farkl\u0131 kimyasal i\u015flemlerden ge\u00e7erek metabolize olurlar. \u0130\u015fte fenilketon\u00fcri hastal\u0131\u011f\u0131n\u0131n temel olu\u015f nedeni, bu bilgiye dayanmaktad\u0131r. Yiyecek ve i\u00e7eceklerle al\u0131nan proteinli g\u0131dalar\u0131n \u00a0yap\u0131s\u0131nda, fenilalanin amino asidi vard\u0131r. G\u0131dalar\u0131n sindirilmesi ile fenilalanin ortaya \u00e7\u0131kar, ancak olu\u015fan fenilalaninin metabolize edilmesi ger\u00e7ekle\u015ftirilemez. Bu durumda, normalde g\u00f6r\u00fclmeyen, fenilalaninden olu\u015fan zehirli maddeler v\u00fccutta birikmeye ba\u015flar ve adeta uzun s\u00fcreli bir zehirlenme sonucunda hastalarda a\u011f\u0131r klinik belirtiler ortaya \u00e7\u0131kar. \u00d6te yandan fenilalanin amino asidi, h\u00fccre \u00e7al\u0131\u015fmas\u0131 i\u00e7in gerekli olacak yararl\u0131 maddelere d\u00f6n\u00fc\u015femez, bunlar\u0131n da eksiklikleri olu\u015fur\u201d diye konu\u015ftu.<\/p>\n
\u201cFenilketon\u00fcri, do\u011fumsal metabolik bir hastal\u0131k\u201d<\/b><\/p>\n
Fenilketon\u00fcrinin do\u011fumsal bir metabolik hastal\u0131k oldu\u011funa dikkat \u00e7eken Prof. Dr. \u00c7oker, \u201cFenilalanin amino asidi, enzim ad\u0131 verilen kolayla\u015ft\u0131r\u0131c\u0131 yap\u0131lar ile metabolize edilir. Bu enzimin ad\u0131 fenilalanin hidroksilaz ( FAH ) enzimidir. FAH enziminin kodlanmas\u0131n\u0131 sa\u011flayan genetik yap\u0131da sorun olmad\u0131k\u00e7a, enzim yeteri kadar olu\u015fur. Ancak genetik yap\u0131da de\u011fi\u015fiklik varsa, FAH enzimi olu\u015famayacak veya hatal\u0131 \u00e7al\u0131\u015facakt\u0131r. H\u00fccre \u00e7al\u0131\u015fma d\u00fczeninde, enzimlere de yard\u0131mc\u0131 olan yap\u0131lar vard\u0131r, bunlar kofakt\u00f6r olarak adland\u0131r\u0131l\u0131rlar, genellikle vitaminlerden olu\u015fur. FAH enzimi i\u00e7in kofakt\u00f6r, tetrahidrobiopterin ( BH4) molek\u00fcl\u00fcd\u00fcr. BH4 de FAH enzimi gibi, genetik yap\u0131n\u0131n kontrol\u00fc alt\u0131nda ve \u00e7e\u015fitli basamaklardan ge\u00e7erek sentez edilir. Bu bilgiler \u0131\u015f\u0131\u011f\u0131nda sonu\u00e7 olarak, fenilketon\u00fcri hastal\u0131\u011f\u0131n\u0131n genetik temelli bir hastal\u0131k oldu\u011fu, FAH enziminin veya BH4 kofakt\u00f6r\u00fcn\u00fcn eksikli\u011fine ba\u011fl\u0131 geli\u015fti\u011fi s\u00f6ylenebilir. Yani do\u011fu\u015ftan bir hastal\u0131kt\u0131r, bebek fenilketon\u00fcrili olarak do\u011far\u201d diye konu\u015ftu.<\/p>\n
\u201cYenido\u011fan tarama testi \u00e7ok \u00f6nemli\u201d<\/b><\/p>\n
Fenilketon\u00fcri hastal\u0131\u011f\u0131nda erken tan\u0131 ve d\u00fczenli tedavi olmad\u0131\u011f\u0131nda hastada kal\u0131c\u0131 hasar olu\u015fturdu\u011funa \u00f6nemle de\u011finen Prof. Dr. \u00c7oker, \u201cDo\u011fumda tamamen normal olan bebek, beslenme ile protein yani fenilalanin ald\u0131k\u00e7a, zehirli maddeler birikmeye ba\u015flar. 4 veya 6. aydan sonra bebek kazan\u0131mlar\u0131n\u0131 kaybetmeye ba\u015flar, ilerleyen aylarda geri d\u00f6n\u00fc\u015f\u00fc olmayan n\u00f6rolojik bulgular olu\u015fur. Ba\u015f tutma, oturma, y\u00fcr\u00fcme, konu\u015fma, etrafla ili\u015fki kurma, anlama, okuma bozukluklar\u0131, havale ge\u00e7irme, d\u0131\u015fk\u0131-idrar kontrol kayb\u0131, kendine ve etrafa zarar verme, ard\u0131\u015f\u0131k hareketler, a\u00e7\u0131k sa\u00e7 rengi olu\u015fur. Bu \u00fcz\u00fcc\u00fc ve a\u011f\u0131r tablonun \u00f6nlenmesi i\u00e7in bebeklerde hi\u00e7bir belirtinin olmad\u0131\u011f\u0131 d\u00f6nemde yap\u0131lacak tarama testi ile hastal\u0131k kolayca te\u015fhis edilir. Her yenido\u011fan bebekten, yeterli beslenmenin ger\u00e7ekle\u015fti\u011fi 3.g\u00fcnden sonra, ya\u015fam\u0131n ilk bir haftas\u0131nda al\u0131nacak 1 damla topuk kan\u0131nda, fenilalanin d\u00fczeyi \u00f6l\u00e7\u00fclerek hastalar, hi\u00e7bir zararlanma olu\u015fmadan tan\u0131n\u0131r. Yenido\u011fan tarama testi \u00fclkemizde do\u011fan her yenido\u011fan bebe\u011fe uygulanmaktad\u0131r. Tarama testi ile tespit edilen bebekler, ilgili Metabolizma Kliniklerinde ayr\u0131nt\u0131l\u0131 de\u011ferlendirmeden ge\u00e7erek te\u015fhis do\u011frulan\u0131r ve tedavi planlar\u0131 yap\u0131l\u0131r. Yani tarama testleri, koruyucu hekimlik ad\u0131na \u00e7ok \u00f6nemli bir geli\u015fmedir\u201d dedi.<\/p>\n
\u201cErken te\u015fhis ve d\u00fczenli tedavi ile hastalar iyile\u015febilir\u201d\u00a0<\/b><\/p>\n
Fenilketon\u00fcri tan\u0131s\u0131 alan bebeklere yap\u0131lacak tedavi y\u00f6ntemleri hakk\u0131nda bilgi veren Prof. Dr. \u00c7oker, \u201cTedavide hayvansal ve bitkisel kaynakl\u0131 proteinli t\u00fcm g\u0131dalar\u0131n\u00a0 kesilmesi, eksik kofakt\u00f6r\u00fcn veya enzimin yerine konmas\u0131, biriken zehirli maddelerin uzakla\u015ft\u0131r\u0131lmas\u0131 gibi y\u00f6ntemler vard\u0131r. \u00d6zellikle beslenme ile do\u011fal proteinler yerine sanayide \u00fcretilen ve fenilalanin i\u00e7ermeyen g\u0131da \u00fcr\u00fcnleri\u00a0 toz ve s\u0131v\u0131 mamalar, un, makarna gibi \u00fcr\u00fcnlerin kullan\u0131m\u0131, fenilketon\u00fcri tedavisinde \u00e7ok \u00f6n plandad\u0131r. Beslenmede yap\u0131lacak en k\u00fc\u00e7\u00fck hata, o anda belirti vermese de zaman ge\u00e7tik\u00e7e de\u011fi\u015fik derecelerde olu\u015fan ve geri d\u00f6nd\u00fcr\u00fclemeyen yani kal\u0131c\u0131 hastal\u0131k bulgular\u0131na yol a\u00e7acakt\u0131r. Bilinmesi gereken en \u00f6nemli nokta, tedavinin ya\u015fam boyu s\u00fcrece\u011fi, hastalar\u0131n d\u00fczenli olarak belirli zaman dilimlerinde kontrol edilmeleridir. Bu ger\u00e7ekle\u015ftirildi\u011finde yani erken te\u015fhis ve etkin, d\u00fczenli tedavi ile hastalar tamamen normal bireyler olarak b\u00fcy\u00fcrler, e\u011fitimlerini tamamlay\u0131p her i\u015fte \u00e7al\u0131\u015fabilirler\u201d dedi.<\/p>\n
Fenilketon\u00fcrili hastalar\u0131n\u0131n tedavi s\u00fcrecinde \u00a0hasta ve ailelerin e\u011fitiminin \u00f6nemli oldu\u011funu vurgu yapan Prof. Dr. \u00c7oker, hem hastalara hem de ailelere, hastal\u0131kla m\u00fccadele konusunda destek vermenin ba\u015far\u0131ya ula\u015fmada en \u00f6nemli yol oldu\u011funu ifade etti.<\/p>\n","protected":false},"excerpt":{"rendered":"
\u201c1 Haziran Ulusal Fenilketon\u00fcri G\u00fcn\u00fc\u201d \u00a0Prof. Dr. \u00c7oker, \u201cFenilketon\u00fcri hastal\u0131\u011f\u0131nda erken tan\u0131 ve tedavi olmazsa…<\/p>\n","protected":false},"author":2,"featured_media":3665,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,70],"tags":[],"class_list":["post-3664","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-gncl","category-kampus"],"featured_image_urls":{"full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-scaled.jpg",2560,1707,false],"thumbnail":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-150x150.jpg",150,150,true],"medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-300x200.jpg",300,200,true],"medium_large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-768x512.jpg",640,427,true],"large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-1024x683.jpg",640,427,true],"1536x1536":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-1536x1024.jpg",1536,1024,true],"2048x2048":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-2048x1365.jpg",2048,1365,true],"newsphere-slider-full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-1280x720.jpg",1280,720,true],"newsphere-featured":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-1024x683.jpg",1024,683,true],"newsphere-medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2021\/06\/Prof.-Dr.-Mahmut-Coker-6-720x380.jpg",720,380,true]},"author_info":{"display_name":"Editor","author_link":"https:\/\/www.euegeajans.com\/index.php\/author\/editor\/"},"category_info":"G\u00fcncel<\/a> Kamp\u00fcs<\/a>","tag_info":"Kamp\u00fcs","comment_count":"0","_links":{"self":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/3664","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/comments?post=3664"}],"version-history":[{"count":2,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/3664\/revisions"}],"predecessor-version":[{"id":3667,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/3664\/revisions\/3667"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media\/3665"}],"wp:attachment":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media?parent=3664"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/categories?post=3664"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/tags?post=3664"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}