Genetik bir hastal\u0131k olan ve erkek \u00e7ocuklarda g\u00f6r\u00fclen DMD, ilerleyici kas erimesi ve y\u0131k\u0131m\u0131 ile hastalar\u0131n hareket kabiliyetini kaybetmesine neden oluyor.<\/p>\n
Kas hastal\u0131\u011f\u0131 olan Duchenne Kas Distrofisi (DMD) hastal\u0131\u011f\u0131, her do\u011fan 3 bin 500 erkek \u00e7ocu\u011funda bir g\u00f6r\u00fcl\u00fcyor. T\u00fcrkiye\u2019de ise her g\u00fcn DMD hastas\u0131 bir bebek d\u00fcnyaya geliyor. Te\u015fhisi ise ortalama 4 ile 4 bu\u00e7uk ya\u015flar\u0131nda konulabilen ve \u015fu an d\u00fcnyada kesin tedavisi olmayan hastal\u0131k \u00f6l\u00fcmle sonu\u00e7lan\u0131yor.<\/p>\n
Hacettepe T\u0131p Fak\u00fcltesi \u00c7ocuk N\u00f6rolojisi \u00d6\u011fretim \u00dcyesi Prof. Dr. Haluk Topalo\u011flu, DMD hastal\u0131\u011f\u0131n\u0131n X kromozomu \u00fczerinde meydana gelen bir hata sonucu ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 belirterek, \u201cBu hastal\u0131k erkek \u00e7ocuklarda g\u00f6r\u00fcl\u00fcr, k\u0131z \u00e7ocuklar\u0131 ise ta\u015f\u0131y\u0131c\u0131 olabilir. T\u00fcrkiye\u2019de bu hastal\u0131kta a\u015fa\u011f\u0131 yukar\u0131 her g\u00fcn bir bebek do\u011fuyor\u201d diye konu\u015ftu.<\/p>\n
\u201c12 ile 13 ya\u015f\u0131ndan sonra y\u00fcr\u00fcmeleri sonlanabilir\u201d<\/p>\n
Hastal\u0131\u011f\u0131n belirtilerinin ya\u015fa g\u00f6re de\u011fi\u015fti\u011fini aktaran Topalo\u011flu, \u201cGenelde \u00e7ocuklar ge\u00e7 y\u00fcr\u00fcrler ama y\u00fcr\u00fcrler. Merdiven kullan\u0131rken zorluk fark edilir. \u00c7ocuklar\u0131n belli bir ya\u015ftan sonra ise y\u00fcr\u00fcmesi bozulur. Ko\u015farken arkada\u015flar\u0131ndan geri kal\u0131rlar. Baz\u0131 \u00e7ocuklarda \u00f6\u011frenme g\u00fc\u00e7l\u00fc\u011f\u00fc, b\u00fcy\u00fcme gerili\u011fi, konu\u015fmada gecikme, dikkat da\u011f\u0131n\u0131kl\u0131\u011f\u0131 s\u00f6z konusu olabilir. Uygun \u015fekilde tedavi g\u00f6remez ise 12 ile 13 ya\u015f\u0131ndan sonra y\u00fcr\u00fcmeleri sonlanabilir\u201d \u015feklinde konu\u015ftu.<\/p>\n
Hastal\u0131\u011f\u0131n te\u015fhisinin gen testi ile ortalama 4 ve 4 bu\u00e7uk ya\u015flar\u0131nda konuldu\u011funu s\u00f6yleyen Topalo\u011flu, te\u015fhis i\u00e7in ya\u015f aral\u0131\u011f\u0131n\u0131n nadir de olsa de\u011fi\u015febildi\u011fini kaydetti.<\/p>\n
“Hastal\u0131\u011f\u0131 ortadan kald\u0131rmak m\u00fcmk\u00fcn de\u011fil”<\/p>\n
Hen\u00fcz hastal\u0131\u011f\u0131 ortadan kald\u0131rman\u0131n m\u00fcmk\u00fcn olmad\u0131\u011f\u0131n\u0131 ifade eden Topalo\u011flu, 60\u2019dan fazla laboratuvar\u0131n \u00e7e\u015fitli y\u00f6ntemlerle hastal\u0131\u011f\u0131n tedavisi i\u00e7in \u00e7al\u0131\u015fmalar s\u00fcrd\u00fcrd\u00fc\u011f\u00fcn\u00fc aktararak, \u201cHastal\u0131\u011f\u0131n y\u00fczde 10\u2019u i\u00e7in ge\u00e7erli ve hastal\u0131\u011f\u0131 durdurmaya y\u00f6nelik bir ila\u00e7 bulunuyor piyasada. Bu pahal\u0131 bir ila\u00e7 ve devlet taraf\u0131ndan kar\u015f\u0131lan\u0131yor. Artmaya ba\u015flayan \u015fikayetleri bu ila\u00e7la durdurmaya \u00e7al\u0131\u015f\u0131yoruz” ifadelerini kulland\u0131.<\/p>\n
Topalo\u011flu, \u015fu anki tedavilerin hastal\u0131\u011f\u0131 kontrol alt\u0131na almaya y\u00f6nelik oldu\u011funu vurgulayarak kromozal hatan\u0131n giderilmesinin ileride gen tedavileriyle m\u00fcmk\u00fcn olabilece\u011fine dikkat \u00e7ekti.<\/p>\n
DMD ba\u015fka hastal\u0131klara da neden oluyor<\/p>\n
\u00d6te yandan Topalo\u011flu, DMD hastas\u0131 \u00e7ocuklarda ileride; kalp, solunum, skolyoz gibi rahats\u0131zl\u0131klar\u0131n da g\u00f6r\u00fclebilece\u011fini belirterek, \u201cHastal\u0131k ilerledik\u00e7e n\u00f6rolog, ortopedist, fizik tedavi, psikolog, beslenme, akci\u011fer, kalp, ortopedi gibi birimler bir sistem halinde de\u011ferlendirilmeli. Belli bir ya\u015ftan sonra bu \u00e7ocuklar yaln\u0131z kalmamal\u0131. Esas ileri ya\u015flarda desteklerin art\u0131r\u0131lmas\u0131 laz\u0131m yoksa k\u00f6t\u00fc sonu\u00e7larla kar\u015f\u0131la\u015f\u0131yoruz. \u00c7ocuk kendi havas\u0131zl\u0131\u011f\u0131nda bo\u011fuluyor. Belli ya\u015ftan sonra kalplerinin her 6 ayda bir incelenmesi gerekir. Ortopedik sorunlar \u00e7\u0131kabilir. Hepsinin bir birlik halinde yard\u0131mc\u0131 olmas\u0131 gerekir\u201d ifadelerini kaydetti.<\/p>\n
Hastalar\u0131n ya\u015fam\u0131n\u0131n k\u0131sa olabildi\u011fini belirten Topalo\u011flu, geli\u015fen t\u0131p ko\u015fullar\u0131yla ve iyi bir t\u0131bbi y\u00f6netimle hastalar\u0131n\u0131n ya\u015fam s\u00fcrelerinin her 10 y\u0131lda bir 5 y\u0131l artt\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n
“Hayatlar\u0131n\u0131 kolayla\u015ft\u0131r\u0131n”<\/p>\n
Topalo\u011flu, DMD hastas\u0131 \u00e7ocuklar\u0131n ya\u015fam kalitesini y\u00fckseltmek gerekti\u011fini ifade ederek, \u201cBu \u00e7ocuklar\u0131n okul \u00e7evreleri, arkada\u015flar\u0131, \u00f6\u011fretmenleri, verilen belediye hizmetleri g\u00f6zden ge\u00e7irilmeli. Mesela \u00e7ocuk 3. s\u0131n\u0131fa gidiyor ve bu s\u0131n\u0131flar 3. katta bulunuyor ve okulda asans\u00f6r yok. Bu \u00e7ocu\u011fun s\u0131n\u0131f\u0131n\u0131n zemin katta bulunmas\u0131 gerekir. Bunlar basit ve al\u0131nabilir tedbirler. Hayatlar\u0131n\u0131 kolayla\u015ft\u0131rmak gerekir\u201d diye konu\u015ftu.<\/p>\n
T\u00fcrkiye\u2019de hastalar\u0131n bak\u0131m\u0131 i\u00e7in gerekli kas hastal\u0131klar\u0131 merkezlerinin de hasta pop\u00fclasyonu ile kar\u015f\u0131la\u015ft\u0131r\u0131ld\u0131\u011f\u0131nda yeterli say\u0131da olmad\u0131\u011f\u0131n\u0131n alt\u0131n\u0131 \u00e7izen Topalo\u011flu, merkez say\u0131s\u0131n\u0131n art\u0131r\u0131lmas\u0131 gerekti\u011fine i\u015faret etti.<\/p>\n","protected":false},"excerpt":{"rendered":"
GENET\u0130K B\u0130R HASTALIK OLAN VE ERKEK \u00c7OCUKLARDA G\u00d6R\u00dcLEN DMD, \u0130LERLEY\u0130C\u0130 KAS ER\u0130MES\u0130 VE YIKIMI \u0130LE HASTALARIN HAREKET KAB\u0130L\u0130YET\u0130N\u0130 KAYBETMES\u0130NE NEDEN OLUYOR.<\/p>\n","protected":false},"author":1,"featured_media":195337,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[1],"tags":[2123,125,36072,23279,2579,11633,73,5030,2383],"class_list":["post-195336","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genel","tag-bebek","tag-bir","tag-dmd","tag-doguyor","tag-gun","tag-hastasi","tag-her","tag-olarak","tag-turkiyede"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"https:\/\/i0.wp.com\/www.tvturk.com\/wp-content\/uploads\/2019\/08\/turkiyede-her-gun-bir-bebek-dmd-hastasi-olarak-doguyor_6ae8388.jpg?fit=1000%2C562","jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/paKIfm-OOA","_links":{"self":[{"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/posts\/195336","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/comments?post=195336"}],"version-history":[{"count":0,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/posts\/195336\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/media\/195337"}],"wp:attachment":[{"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/media?parent=195336"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/categories?post=195336"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.tvturk.com\/index.php\/wp-json\/wp\/v2\/tags?post=195336"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}