{"id":22439,"date":"2024-03-04T14:00:00","date_gmt":"2024-03-04T11:00:00","guid":{"rendered":"https:\/\/iletim.istanbul.edu.tr\/?p=22439"},"modified":"2024-02-29T14:38:18","modified_gmt":"2024-02-29T11:38:18","slug":"gevsek-bebek-sendromu-spinal-muskuler-atrofi","status":"publish","type":"post","link":"https:\/\/iletim.istanbul.edu.tr\/index.php\/2024\/03\/04\/gevsek-bebek-sendromu-spinal-muskuler-atrofi\/","title":{"rendered":"Gev\u015fek Bebek Sendromu \u201cSpinal M\u00fcsk\u00fcler Atrofi\u201d"},"content":{"rendered":"\n<p><strong>Haber: Sevda Ekmen<\/strong><\/p>\n\n\n\n<p><strong>Edit\u00f6r: Zehra Nur Altun<\/strong><\/p>\n\n\n\n<p>Halk aras\u0131nda&nbsp; \u201cgev\u015fek bebek sendromu\u201d olarak da bilinen SMA (spinal m\u00fcsk\u00fcler atrofi)&nbsp; \u00fclkemizde her 6 bin&nbsp; do\u011fumdan birinde g\u00f6r\u00fclmekte. Hen\u00fcz kesin bir \u00e7\u00f6z\u00fcm\u00fc bulunmamakla beraber uygulanan tedaviler, belirtileri azaltarak hastalar\u0131n ya\u015fam kalitesinin artt\u0131rmay\u0131 ama\u00e7lamakta.<\/p>\n\n\n\n<p>SMA Tip1 hastas\u0131 Yi\u011fit bebekte tedavisi i\u00e7in zamanla yar\u0131\u015fanlar aras\u0131nda. Annesi Fatma Kaplan hastal\u0131k s\u00fcrecini, \u201cYi\u011fit 15 g\u00fcnl\u00fckken durumunu \u00f6\u011frendik. Erken te\u015fhis olmas\u0131na ra\u011fmen \u00e7ok h\u0131zl\u0131 ilerleyen bir rahats\u0131zl\u0131k. \u00d6ncelikle kas zay\u0131fl\u0131\u011f\u0131, kafas\u0131n\u0131 sabit tutamama gibi belirtiler g\u00f6r\u00fcrken zaman ge\u00e7tik\u00e7e ya\u015f\u0131tlar\u0131n\u0131n geli\u015fiminden \u00e7ok geride kald\u0131. \u015eu an 14 ayl\u0131k olan o\u011flumuzun y\u00fcr\u00fcmesini beklerken o\u011flumuz desteksiz oturam\u0131yor, dengede dahi duram\u0131yor.\u201d \u015feklinde aktard\u0131.<\/p>\n\n\n\n<p>\u015eu anda SGK \u00f6deme kapsam\u0131nda olan Spinraza tedavisi g\u00f6ren Yi\u011fit bebe\u011fin as\u0131l almas\u0131 gereken gen tedavisi yurtd\u0131\u015f\u0131nda uygulanabilmekte. Aileye tedavi i\u00e7in verilen en uygun teklif 1,8 milyon dolar ve bu paran\u0131n sadece y\u00fczde 33\u2019\u00fc toplanabildi. Baba Nurullah Kaplan, \u201cBa\u011f\u0131\u015f kampanyalar\u0131, sosyal medya ve d\u00fczenlenen ba\u011f\u0131\u015f geceleri yoluyla Yi\u011fit\u2019in tedavi paras\u0131n\u0131 toplamaya u\u011fra\u015f\u0131yoruz. Bu yolda duyarl\u0131 insanlar\u0131n o\u011flumun sesini duymas\u0131n\u0131 istiyoruz.\u201d diyerek yard\u0131m \u00e7a\u011f\u0131r\u0131s\u0131nda bulundu.&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p>Kaslarda k\u00fc\u00e7\u00fclmeye yol a\u00e7an bu genetik rahats\u0131zl\u0131k \u00e7o\u011funlukla bebekleri ve \u00e7ocuklar\u0131 etkilemekte. Bu hastal\u0131k SMN1 ad\u0131 verilen eksik veya mutasyona u\u011fram\u0131\u015f genin her iki ebeveynden bebe\u011fe ge\u00e7mesi sonucu olu\u015fmakta. Kaslarda zay\u0131fl\u0131k, oturma ve emekleme gibi kaba motor becerilerinde gecikme, ba\u015f kontrol\u00fcnde zay\u0131fl\u0131k, skolyoz vb. eklem rahats\u0131zl\u0131klar\u0131 ve solunum sorunlar\u0131 gibi belirtilerle ortaya \u00e7\u0131kmakta.<\/p>\n\n\n\n<p>Hastal\u0131\u011f\u0131n 4 tipi bulunmakla beraber yap\u0131lan ara\u015ft\u0131rmalarda Tip1 ve Tip2 SMA\u2019n\u0131n, hastal\u0131\u011f\u0131n en yayg\u0131n bi\u00e7imleri oldu\u011fu ortaya \u00e7\u0131kt\u0131. Tip1 SMA\u2019da hastalar\u0131n \u00e7o\u011funun, tedavi g\u00f6remezse 2 ya\u015f\u0131na kadar hayat\u0131na devam edebildi\u011fi tespit edildi.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" src=\"https:\/\/iletim.istanbul.edu.tr\/wp-content\/uploads\/sma-doktor-edited.jpg\" alt=\"\" class=\"wp-image-22443\" width=\"604\" srcset=\"https:\/\/iletim.istanbul.edu.tr\/wp-content\/uploads\/sma-doktor-edited.jpg 960w, https:\/\/iletim.istanbul.edu.tr\/wp-content\/uploads\/sma-doktor-edited-300x225.jpg 300w, https:\/\/iletim.istanbul.edu.tr\/wp-content\/uploads\/sma-doktor-edited-768x576.jpg 768w, https:\/\/iletim.istanbul.edu.tr\/wp-content\/uploads\/sma-doktor-edited-750x563.jpg 750w\" sizes=\"(max-width: 960px) 100vw, 960px\" \/><\/figure>\n\n\n\n<p><\/p>\n\n\n\n<p>\u0130stanbul T\u0131p Fak\u00fcltesi \u00c7ocuk n\u00f6rolojisi bilim dal\u0131 alan\u0131nda \u00e7al\u0131\u015fan Do\u00e7.Dr. P\u0131nar Topalo\u011flu SMA\u2019y\u0131 motor n\u00f6ronlar\u0131 etkileyen, ba\u015fta&nbsp; kol ve bacaklar olmak \u00fczere b\u00fct\u00fcn g\u00f6vde kaslar\u0131nda kuvvet kayb\u0131 yaratan genetik ge\u00e7i\u015fli bir hastal\u0131k olarak tan\u0131mlad\u0131. Do\u00e7.Dr. Topalo\u011flu SMA tipleri ve belirtileri hakk\u0131nda \u201c\u00c7ok erken bebeklik d\u00f6neminde ba\u015flamak \u00fczere eri\u015fkinli\u011fe kadar ba\u015flayabilen 4 tip formu var. Bunlar\u0131n tip0 ve tip1 dedi\u011fimiz en erken ba\u015flayanlar\u0131 en a\u011f\u0131r \u015fekilde seyretmekte. Bu hastalar ba\u015f\u0131n\u0131 tutmakta zorlan\u0131r, solunum ve beslenmede zay\u0131ft\u0131r. Motor becerileri ya\u015f\u0131tlar\u0131ndan geride geli\u015fir. Ba\u015flang\u0131\u00e7 ya\u015f\u0131 ve motor g\u00fcc\u00fcne g\u00f6re SMA\u2019n\u0131n tipine karar veriyoruz.\u201d \u015feklinde konu\u015ftu. P\u0131nar Topalo\u011flu, hastalar\u0131n mental olarak gayet iyi oldu\u011funu, hatta tip3 ve tip4 hastalar\u0131n \u00e7ok iyi \u00fcniversitelerde okuyabildi\u011fini vurgulad\u0131. Tedavi s\u00fcrecini, \u201cTedavide SGK taraf\u0131ndan kar\u015f\u0131lanan Nusinersen ad\u0131 verilen ilac\u0131 kullan\u0131yoruz. \u0130lac\u0131n amac\u0131 sentezlenemeyen proteinlerin eksikli\u011fini gidermek. SMN proteinini kodlamaya ve \u00fcretmeye yard\u0131mc\u0131 oluyor.\u201d ifadeleriyle aktard\u0131.<\/p>\n\n\n\n<p>Topalo\u011flu son olarak \u201cEvlilik \u00f6ncesi testlerle anne babalar ta\u015f\u0131y\u0131c\u0131 ise bunu bilerek \u00e7ocuk planlayabilirler. SMA hastal\u0131\u011f\u0131 sonradan \u00f6nlenemez. \u00c7ok yayg\u0131n olmamakla beraber bozuk genin bebe\u011fe ge\u00e7memesini sa\u011flayan, \u00f6zel genetik\u00e7iler ve embriyologlarla \u00e7al\u0131\u015fan t\u00fcp bebek merkezleri de bulunmakta.\u201d diyerek SMA\u2019n\u0131n \u00f6nlenmesi i\u00e7in gerekenleri anlatt\u0131.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Haber: Sevda Ekmen Edit\u00f6r: Zehra Nur Altun Halk aras\u0131nda&nbsp; \u201cgev\u015fek bebek sendromu\u201d olarak da bilinen SMA (spinal m\u00fcsk\u00fcler atrofi)&nbsp; \u00fclkemizde her 6 bin&nbsp; do\u011fumdan birinde g\u00f6r\u00fclmekte. Hen\u00fcz kesin bir \u00e7\u00f6z\u00fcm\u00fc bulunmamakla beraber uygulanan tedaviler, belirtileri azaltarak hastalar\u0131n ya\u015fam kalitesinin artt\u0131rmay\u0131 ama\u00e7lamakta. SMA Tip1 hastas\u0131 Yi\u011fit bebekte tedavisi i\u00e7in zamanla yar\u0131\u015fanlar aras\u0131nda. Annesi Fatma Kaplan hastal\u0131k [&hellip;]<\/p>\n","protected":false},"author":14,"featured_media":22440,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"jnews-multi-image_gallery":[],"jnews_single_post":{"subtitle":"","format":"standard","video":"","gallery":"","source_name":"","source_url":"","via_name":"","via_url":"","override_template":"0","override":[{"template":"1","single_blog_custom":"","parallax":"1","fullscreen":"1","layout":"double-sidebar","sidebar":"single-left","second_sidebar":"default-sidebar","sticky_sidebar":"1","share_position":"top","share_float_style":"share-monocrhome","show_share_counter":"1","show_view_counter":"1","show_featured":"1","show_post_meta":"1","show_post_author":"1","show_post_author_image":"1","show_post_date":"1","post_date_format":"default","post_date_format_custom":"Y\/m\/d","show_post_category":"1","show_post_reading_time":"0","post_reading_time_wpm":"300","show_zoom_button":"0","zoom_button_out_step":"2","zoom_button_in_step":"3","show_post_tag":"1","show_prev_next_post":"1","show_popup_post":"1","number_popup_post":"1","show_author_box":"0","show_post_related":"0","show_inline_post_related":"1"}],"override_image_size":"0","image_override":[{"single_post_thumbnail_size":"crop-500","single_post_gallery_size":"crop-500"}],"trending_post":"0","trending_post_position":"meta","trending_post_label":"Trending","sponsored_post":"0","sponsored_post_label":"Sponsored by","sponsored_post_name":"","sponsored_post_url":"","sponsored_post_logo_enable":"0","sponsored_post_logo":"","sponsored_post_desc":"","disable_ad":"0"},"jnews_primary_category":{"id":"","hide":""},"jnews_social_meta":{"fb_title":"","fb_description":"","fb_image":"","twitter_title":"","twitter_description":"","twitter_image":""},"jnews_override_counter":{"override_view_counter":"0","view_counter_number":"0","override_share_counter":"0","share_counter_number":"0","override_like_counter":"0","like_counter_number":"0","override_dislike_counter":"0","dislike_counter_number":"0"},"footnotes":""},"categories":[24,1,32,35],"tags":[2890,491,2892,2891,2889],"class_list":["post-22439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-bilim","category-genel","category-saglik","category-yasam","tag-bebek","tag-cocuk","tag-gevsek-bebek-sendromu","tag-hastalik","tag-sma"],"_links":{"self":[{"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/posts\/22439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/users\/14"}],"replies":[{"embeddable":true,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/comments?post=22439"}],"version-history":[{"count":0,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/posts\/22439\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/media\/22440"}],"wp:attachment":[{"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/media?parent=22439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/categories?post=22439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/iletim.istanbul.edu.tr\/index.php\/wp-json\/wp\/v2\/tags?post=22439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}