{"id":6941,"date":"2022-02-28T07:23:07","date_gmt":"2022-02-28T07:23:07","guid":{"rendered":"https:\/\/www.euegeajans.com\/?p=6941"},"modified":"2022-02-28T07:23:07","modified_gmt":"2022-02-28T07:23:07","slug":"prof-dr-coker-metabolik-hastaliklar-nadir-hastaliklarin-cok-onemli-nedeni","status":"publish","type":"post","link":"https:\/\/www.euegeajans.com\/index.php\/2022\/02\/28\/prof-dr-coker-metabolik-hastaliklar-nadir-hastaliklarin-cok-onemli-nedeni\/","title":{"rendered":"Prof. Dr. \u00c7oker \u201cMetabolik hastal\u0131klar, nadir hastal\u0131klar\u0131n \u00e7ok \u00f6nemli nedeni\u201d"},"content":{"rendered":"

\n

Nadir hastal\u0131klara kar\u015f\u0131 fark\u0131ndal\u0131k olu\u015fturmak ve bu hastal\u0131klar\u0131 olan ki\u015filerin tedaviye ve ila\u00e7lara kolay eri\u015fimini sa\u011flamak amac\u0131 ile her y\u0131l 28 \u015eubat tarihinde \u201cNadir Hastal\u0131klar G\u00fcn\u00fc\u201d kapsam\u0131nda \u00e7e\u015fitli etkinlikler d\u00fczenleniyor. Metabolik hastal\u0131klar\u0131n, nadir hastal\u0131klar\u0131n \u00f6nemli bir nedeni oldu\u011funu s\u00f6yleyen Ege \u00dcniversitesi T\u0131p Fak\u00fcltesi \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Anabilim Dal\u0131 Metabolizma \u2013 Beslenme Bilim Dal\u0131 Ba\u015fkan\u0131 Prof. Dr. Mahmut \u00c7oker, en az 8 bin nadir hastal\u0131k t\u00fcr\u00fc oldu\u011funu ve hastal\u0131klar\u0131n y\u00fczde 80\u2019inin genetik temelli oldu\u011funu s\u00f6yledi.<\/p>\n

Geli\u015fen teknolojiyle nadir hastal\u0131klar\u0131n daha fazla te\u015fhis edildi\u011fini belirten Prof. Dr. \u00c7oker, \u201cToplumda g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131n\u0131n \"\"2 binde 1\u2019den daha az olan hastal\u0131klar, nadir hastal\u0131klar olarak kabul ediliyor. Nadir hastal\u0131klar\u0131n tamam\u0131na yak\u0131n\u0131 kronik bir s\u00fcre\u00e7 izler, yani y\u0131llar boyu devam eder, zamanla ilerleyebilir, hatta maalesef a\u011f\u0131r sa\u011fl\u0131k sorunlar\u0131na ve \u00f6l\u00fcme yol a\u00e7abilir. Bilim \u00e7evreleri, bu konuda yapt\u0131klar\u0131 \u00e7al\u0131\u015fmalarla en az 8 bin nadir hastal\u0131k oldu\u011funu ortaya koydular. Hastal\u0131klar\u0131n yakla\u015f\u0131k y\u00fczde 80\u2019inin genetik temelli oldu\u011fu anla\u015f\u0131ld\u0131. Bir hastaya nadir hastal\u0131k te\u015fhisi kondu\u011funda di\u011fer aile bireyleri de ayr\u0131nt\u0131l\u0131 bir \u015fekilde de\u011ferlendirilir. B\u00f6ylelikle belirtileri daha silik olan veya yanl\u0131\u015fl\u0131kla bir ba\u015fka hastal\u0131k te\u015fhisiyle izlenen hastalar ortaya \u00e7\u0131kar\u0131labilir. Ancak \u00fclkemizdeki nadir hastal\u0131\u011f\u0131 olup da tan\u0131 konmam\u0131\u015f hasta say\u0131s\u0131n\u0131n \u00e7ok fazla oldu\u011fu tahmin ediliyor\u201d dedi.<\/p>\n

\u201cBelirtiler \u00e7ocukluk \u00e7a\u011f\u0131nda ba\u015fl\u0131yor\u201d<\/strong><\/p>\n

Do\u011fumsal metabolik hastal\u0131klar\u0131n, nadir hastal\u0131k grubuna \u00e7ok iyi bir \u00f6rnek oldu\u011funu s\u00f6yleyen Prof. Dr. \u00c7oker, \u201c\u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 uzmanl\u0131k alan\u0131nda yer alan ve bir \u00fcst uzmanl\u0131k alan\u0131 (yan dal) olarak kabul edilen Metabolizma ve Beslenme Bilim Dal\u0131\u2019nda takip edilen hastal\u0131klar\u0131n tamam\u0131, nadir hastal\u0131klardan olu\u015fuyor. \u00d6rne\u011fin bilim dal\u0131m\u0131zda, metabolik hastal\u0131k nedeniyle dosya a\u00e7\u0131lm\u0131\u015f, takip edilmi\u015f yakla\u015f\u0131k 10 bin hastan\u0131n tamam\u0131, nadir hastal\u0131k tan\u0131s\u0131 alm\u0131\u015f veya bu nedenle ara\u015ft\u0131r\u0131lm\u0131\u015f hastalar. Metabolik hastal\u0131klar\u0131n yakla\u015f\u0131k yar\u0131s\u0131nda belirtiler \u00e7ocukluk \u00e7a\u011f\u0131nda ba\u015flar. Ancak \u00e7ok hafif bulgular\u0131 olup eri\u015fkin d\u00f6neme dek tan\u0131 almayan hastalar\u0131n da oldu\u011funu biliyoruz. Hastal\u0131k belirtileri \u00e7ok \u00e7e\u015fitlidir, hemen t\u00fcm organlar\u0131n \u00e7al\u0131\u015fma bozukluklar\u0131 g\u00f6r\u00fclebilir. Geli\u015fim gerili\u011fi, havale ge\u00e7irme, bilin\u00e7 kayb\u0131, karaci\u011fer, b\u00f6brek, kalp hastal\u0131klar\u0131, kas ve kemik hastal\u0131klar\u0131, k\u0131saca \u00e7ok \u00e7e\u015fitli sa\u011fl\u0131k sorunlar\u0131na yol a\u00e7abilir. Bu nedenle hastalar\u0131n, \u00f6zellikle ge\u00e7meyen, y\u0131llar i\u00e7inde ilerleyip ba\u015fka belirtilerin de eklendi\u011fi yak\u0131nmalar\u0131 dikkatle ele al\u0131nmal\u0131; ayr\u0131nt\u0131l\u0131 fizik bak\u0131 ve laboratuvar analizleri ile birlikte metabolik hastal\u0131klar\u0131n yer ald\u0131\u011f\u0131 nadir hastal\u0131klar aranmal\u0131d\u0131r\u201d diye konu\u015ftu.<\/p>\n

Metabolizma kavram\u0131na de\u011finen Prof. Dr. \u00c7oker, \u201cV\u00fccudumuzdaki organlar\u0131n g\u00f6revlerini yapabilmeleri i\u00e7in h\u00fccreler d\u00fczenli, verimli \u00e7al\u0131\u015fmal\u0131d\u0131r. Beslenme ile protein, ya\u011f ve karbonhidratlar yeterli miktarda al\u0131nmal\u0131d\u0131r. B\u00f6ylelikle al\u0131nan besinler sindirilerek h\u00fccrelerin \u00e7al\u0131\u015fmas\u0131 i\u00e7in kaynak olu\u015fturur, bir k\u0131s\u0131m \u00fcr\u00fcnler gerekti\u011finde kullan\u0131lmak \u00fczere depolan\u0131r. Ayr\u0131ca baz\u0131 bile\u015fimler h\u00fccrede sentez edilir. B\u00f6ylelikle sonu\u00e7ta enerji elde edilir ve kullan\u0131l\u0131r. \u0130\u015flemler s\u0131ras\u0131nda olu\u015fan zararl\u0131 maddeler de v\u00fccuttan at\u0131l\u0131r. A\u00e7\u0131klanan i\u015flemlerin hepsine \u2018metabolizma\u2019 diyoruz. Bir ba\u015fka deyi\u015fle metabolizma, v\u00fccudumuzda dengeli bir \u015fekilde ger\u00e7ekle\u015fen yap\u0131m ve y\u0131k\u0131m eylemlerinin ortak ad\u0131d\u0131r.\u00a0 Bu olaylar\u0131n ger\u00e7ekle\u015fmesinde enzim ad\u0131n\u0131 verdi\u011fimiz kolayla\u015ft\u0131r\u0131c\u0131lar, arac\u0131lar vard\u0131r. S\u00f6z edilen \u00e7al\u0131\u015fmalar\u0131, genlerimiz kontrol eder. Anlat\u0131lan d\u00fczende bir aksama yoksa metabolik yollar d\u00fczg\u00fcn \u00e7al\u0131\u015f\u0131yor demektir. Aksi durumda metabolik hastal\u0131klar geli\u015fir. Metabolik hastal\u0131klar do\u011fu\u015ftand\u0131r, genlerdeki bozukluk sonucu olu\u015fur ve ya\u015fam boyu devam eder. Genetik bozuklu\u011fun ku\u015faklar boyu aktar\u0131labilmesi, \u00f6zellikle bizim gibi akraba evlili\u011finin \u00e7ok y\u00fcksek oldu\u011fu \u00fclkelerde, dikkati \u00e7eken bir di\u011fer \u00f6nemli konudur. Ancak bilimdeki bu geli\u015fmeler, insanl\u0131\u011fa b\u00fcy\u00fck katk\u0131da bulunmu\u015f, ailesinde metabolik hastal\u0131\u011f\u0131 olan bireylerin sa\u011fl\u0131kl\u0131 \u00e7ocuk sahibi olmalar\u0131na olanak sa\u011flam\u0131\u015ft\u0131r. Do\u011facak bebekte klinikleri \u00e7ok a\u011f\u0131r seyreden, \u00f6l\u00fcmc\u00fcl olabilen metabolik hastal\u0131k olup olmad\u0131\u011f\u0131; hamilelik \u00f6ncesi ve hamileli\u011fin ilk aylar\u0131ndaki yak\u0131n takip ve analizlerle anla\u015f\u0131labilmektedir. Ancak bunun i\u00e7in planl\u0131 gebelik yap\u0131lmas\u0131 gereklidir\u201d dedi.<\/p>\n

\u201cTarama testleriyle erken te\u015fhis m\u00fcmk\u00fcn\u201d<\/strong><\/p>\n

Metabolik hastal\u0131klar\u0131n \u00e7ok farkl\u0131 belirtilerle ba\u015flayabildi\u011fini s\u00f6yleyen \u00c7oker, \u201cMetabolik hastal\u0131klar\u0131n fark\u0131ndal\u0131\u011f\u0131n\u0131n artmas\u0131, erken tan\u0131 konmas\u0131, tedavi edilebilme olas\u0131l\u0131\u011f\u0131n\u0131 da art\u0131r\u0131r. Koruyucu hekimlik bak\u0131\u015f a\u00e7\u0131s\u0131yla de\u011ferlendirildi\u011finde, baz\u0131 metabolik hastal\u0131klar\u0131n yenido\u011fan d\u00f6neminde tarama testleri ile tan\u0131nmas\u0131 m\u00fcmk\u00fcnd\u00fcr. \u00d6rne\u011fin fenilketon\u00fcri hastal\u0131\u011f\u0131 olan bir yenido\u011fan, topuktan al\u0131nan bir damla kan ile te\u015fhis edilebilmekte, hemen ba\u015flanan tedavi ile tamamen sa\u011fl\u0131kl\u0131 bir \u00e7ocuk olarak b\u00fcy\u00fcmekte, e\u011fitimini tamamlayan, mesle\u011fini uygulayan eri\u015fkin olarak ya\u015fam\u0131n\u0131 s\u00fcrd\u00fcrebilmektedir. Biotinidaz eksikli\u011fi de yenido\u011fan d\u00f6neminde taranan bir di\u011fer metabolik hastal\u0131kt\u0131r. Hatta bebekleri tan\u0131 ald\u0131ktan sonra, anne-babalar\u0131n incelenmesiyle onlarda da hasta olanlar bulunabilmektedir. \u00dclkemizde ba\u015far\u0131yla uygulanan ulusal tarama program\u0131na, \u00f6n\u00fcm\u00fczdeki g\u00fcnlerde di\u011fer metabolik hastal\u0131klar da eklenecektir\u201d dedi.<\/p>\n

\u00c7oker, \u201cMetabolizma merkezlerinin geli\u015fmesi, nadir hastal\u0131klar konusunda \u00fclkelerin sa\u011fl\u0131k politikalar\u0131n\u0131n daha do\u011fru olu\u015fturulmas\u0131na, tan\u0131 ve tedavi olanaklar\u0131n\u0131n art\u0131r\u0131lmas\u0131na, gereksiz harcamalar\u0131n ortadan kald\u0131r\u0131lmas\u0131na ve bilimsel \u00e7al\u0131\u015fmalar\u0131n yap\u0131lmas\u0131na olanak sa\u011flayacakt\u0131r. G\u00fcn\u00fcm\u00fczde \u00f6zellikle eri\u015fkin d\u00f6nemde hastalar\u0131n b\u00fcy\u00fck b\u00f6l\u00fcm\u00fcn\u00fcn, farkl\u0131 \u00f6n tan\u0131 veya tan\u0131larla izlenmesi, hastal\u0131\u011fa y\u00f6nelik tedavilerinin yap\u0131lmamas\u0131 nedeniyle \u00e7ok zaman kaybedildi\u011fi biliniyor. Tan\u0131 konan metabolizma hastalar\u0131n\u0131n tedavilerinde son y\u0131llarda b\u00fcy\u00fck geli\u015fmeler oldu. \u00d6nceleri hastalar\u0131n b\u00fcy\u00fck b\u00f6l\u00fcm\u00fcne tedavi yap\u0131lamazken g\u00fcn\u00fcm\u00fczde beslenme, hastal\u0131\u011fa \u00f6zg\u00fc ila\u00e7lar, eksik enzimin yerine konmas\u0131, organ nakilleri ile b\u00fcy\u00fck ba\u015far\u0131lar elde edildi. Olay\u0131n temeline y\u00f6nelik olan gen tedavisi ise bu hastalar i\u00e7in b\u00fcy\u00fck umut ta\u015f\u0131yor. Hastal\u0131klar tek tek ele al\u0131nd\u0131\u011f\u0131nda nadir hastal\u0131klar olsa da metabolik hastal\u0131klar olarak t\u00fcm\u00fc bir arada de\u011ferlendirildi\u011finde, say\u0131n\u0131n hi\u00e7 de az olmad\u0131\u011f\u0131 g\u00f6r\u00fcl\u00fcyor. Hem hastalar\u0131 hem de onlar\u0131n bak\u0131mlar\u0131n\u0131 \u00fcstlenen aile bireylerinin ya\u015famlar\u0131n\u0131 b\u00fcy\u00fck \u00f6l\u00e7\u00fcde etkiliyor. Biz de Pediatrik Metabolizma Bilim Dal\u0131 olarak bu t\u00fcr hastal\u0131klara kar\u015f\u0131 fark\u0131ndal\u0131\u011f\u0131n artmas\u0131n\u0131\u00a0 \u00e7ok \u00f6nemsiyoruz\u201d diyerek s\u00f6zlerini noktalad\u0131.<\/p>\n","protected":false},"excerpt":{"rendered":"

Nadir hastal\u0131klara kar\u015f\u0131 fark\u0131ndal\u0131k olu\u015fturmak ve bu hastal\u0131klar\u0131 olan ki\u015filerin tedaviye ve ila\u00e7lara kolay eri\u015fimini…<\/p>\n","protected":false},"author":2,"featured_media":6942,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,11],"tags":[],"class_list":["post-6941","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-gncl","category-haber"],"featured_image_urls":{"full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6.jpg",1500,1000,false],"thumbnail":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-150x150.jpg",150,150,true],"medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-300x200.jpg",300,200,true],"medium_large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-768x512.jpg",640,427,true],"large":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-1024x683.jpg",640,427,true],"1536x1536":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6.jpg",1500,1000,false],"2048x2048":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6.jpg",1500,1000,false],"newsphere-slider-full":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-1280x720.jpg",1280,720,true],"newsphere-featured":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/Prof.-Dr.-Mahmut-Coker-6-1024x683.jpg",1024,683,true],"newsphere-medium":["https:\/\/www.euegeajans.com\/wp-content\/uploads\/2022\/02\/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> Haber<\/a>","tag_info":"Haber","comment_count":"0","_links":{"self":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/6941","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=6941"}],"version-history":[{"count":2,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/6941\/revisions"}],"predecessor-version":[{"id":6945,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/posts\/6941\/revisions\/6945"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media\/6942"}],"wp:attachment":[{"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/media?parent=6941"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/categories?post=6941"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euegeajans.com\/index.php\/wp-json\/wp\/v2\/tags?post=6941"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}