{"id":11366,"date":"2021-07-26T11:48:05","date_gmt":"2021-07-26T08:48:05","guid":{"rendered":"https:\/\/blog.annebebekkulubu.com\/?p=11366"},"modified":"2021-07-26T11:51:25","modified_gmt":"2021-07-26T08:51:25","slug":"cocuklardaki-genetik-hastaliklar-nelerdir","status":"publish","type":"post","link":"https:\/\/annebebekkulubu.com\/blog\/cocuklardaki-genetik-hastaliklar-nelerdir\/","title":{"rendered":"\u00c7ocuklardaki genetik hastal\u0131klar nelerdir?"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Yaz\u0131 \u0130\u00e7eri\u011fi<\/p>\n<label for=\"ez-toc-cssicon-toggle-item-69e3b0ed8db05\" class=\"ez-toc-cssicon-toggle-label\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/label><input type=\"checkbox\"  id=\"ez-toc-cssicon-toggle-item-69e3b0ed8db05\"  aria-label=\"A\u00e7\/Kapat\" \/><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/annebebekkulubu.com\/blog\/cocuklardaki-genetik-hastaliklar-nelerdir\/#Genetik_nedir\" >Genetik nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/annebebekkulubu.com\/blog\/cocuklardaki-genetik-hastaliklar-nelerdir\/#Genetik_hastaliklar_nelerdir\" >Genetik hastal\u0131klar nelerdir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/annebebekkulubu.com\/blog\/cocuklardaki-genetik-hastaliklar-nelerdir\/#Genetik_danismanin_onemi_nedir\" >Genetik dan\u0131\u015fman\u0131n \u00f6nemi nedir?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/annebebekkulubu.com\/blog\/cocuklardaki-genetik-hastaliklar-nelerdir\/#Toplumumuzda_gorulebilen_genetik_hastaliklarin_bir_kismi\" >Toplumumuzda g\u00f6r\u00fclebilen genetik hastal\u0131klar\u0131n bir k\u0131sm\u0131:<\/a><\/li><\/ul><\/nav><\/div>\n<p>\u00c7ocuklardaki genetik hastal\u0131klar nelerdir? Ta\u015f\u0131y\u0131c\u0131 olunan baz\u0131 hastal\u0131klar vard\u0131r. Genetik k\u00f6kenli hastal\u0131klar ve tespiti ile ilgili<strong> \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Uzman\u0131 Dr. Serpil Can Anne Bebek Kul\u00fcb\u00fc<\/strong> i\u00e7in \u00e7ocuklarda g\u00f6r\u00fclen genetik hastal\u0131klar ve genetik dan\u0131\u015fma hakk\u0131nda merak edilenleri yazd\u0131.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Genetik_nedir\"><\/span><strong>Genetik nedir?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Genetik; kal\u0131t\u0131m s\u00fcrecini ve kal\u0131t\u0131mla ge\u00e7en \u00f6zellikleri canl\u0131larda inceleyen bilim dal\u0131d\u0131r. T\u0131bbi genetik; insanda t\u0131bbi \u00f6nemi olan genetik de\u011fi\u015fkenlikleri, hastal\u0131\u011fa yol a\u00e7an genlerin ailelerde ve toplum genelinde nas\u0131l yay\u0131ld\u0131\u011f\u0131n\u0131, ne t\u00fcr belirtilere yol a\u00e7t\u0131\u011f\u0131n\u0131 inceleyen bilim dal\u0131d\u0131r. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Bu alandaki uygulamalar sayesinde aile bireylerinde, toplumda genetik hastal\u0131klar\u0131n, ta\u015f\u0131y\u0131c\u0131lar\u0131n ve riskli bireylerin erken d\u00f6nemde, hatta do\u011fum \u00f6ncesinde saptanmas\u0131 m\u00fcmk\u00fcnd\u00fcr.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Genetik_hastaliklar_nelerdir\"><\/span><strong>Genetik hastal\u0131klar nelerdir?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">\u00a0 En s\u0131k g\u00f6r\u00fclen genetik hastal\u0131klar\u00a03 ayr\u0131 grupta incelenebilir.<\/span><\/p>\n<ol>\n<li><span style=\"font-weight: 400;\">Tek gen bozukluklar\u0131<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Kromozom bozukluklar\u0131\u00a0<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Multifakt\u00f6ryel kal\u0131t\u0131mla ge\u00e7en hastal\u0131klar<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">En s\u0131k g\u00f6r\u00fclen grup multifakt\u00f6ryel kal\u0131t\u0131mla ge\u00e7en gruptur.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Genetik hastal\u0131klar\u0131n \u00f6nemli bir k\u0131sm\u0131nda cerrahi veya t\u0131bbi tedavi g\u00fcn\u00fcm\u00fcz ko\u015fullar\u0131nda halen m\u00fcmk\u00fcn de\u011fildir. Bu nedenle bu hastal\u0131klardan korunma \u00f6nlemlerinin bilinmesi ve toplumda yayg\u0131n olarak uygulanmas\u0131 hastal\u0131klar\u0131n azalt\u0131lmas\u0131nda en ge\u00e7erli y\u00f6ntemdir.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Genetik_danismanin_onemi_nedir\"><\/span><strong>Genetik dan\u0131\u015fman\u0131n \u00f6nemi nedir?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Genetik hastal\u0131klar i\u00e7in riskli ki\u015filerin ve ailelerin gebelikten \u00f6nce belirlenerek, bilgilendirilmeleri esast\u0131r. Kal\u0131tsal bir hastal\u0131k saptanan ki\u015finin yak\u0131n akrabalar\u0131 aras\u0131nda sa\u011fl\u0131kl\u0131 g\u00f6r\u00fcnen fakat y\u00fcksek riskli ki\u015filer olabilir. <\/span><\/p>\n<p><span style=\"font-weight: 400;\">Bu ki\u015filerin korunma y\u00f6ntemleri hakk\u0131nda ayd\u0131nlat\u0131lmas\u0131 ve riskli oldu\u011fu tespit edilen gebelere prenatal tan\u0131 testleri uygulanmas\u0131 ile sa\u011fl\u0131kl\u0131 \u00e7ocuk sahibi olmalar\u0131 sa\u011flanabilir.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u0130leri anne ya\u015f\u0131<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Daha \u00f6nceki gebelikten do\u011fan kromozom anomalili \u00e7ocuk \u00f6yk\u00fcs\u00fc<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Dengeli kromozom anomalisi ta\u015f\u0131y\u0131c\u0131lar\u0131<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Gebelikte fetal ultrasonografide anomali<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Gebelikte anne serumunda biyokimyasal g\u00f6stergelerin (\u00f6striol, beta hCG, AFP) standart d\u0131\u015f\u0131 saptanmas\u0131 halinde<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Annenin daha \u00f6nceki gebeliklerinde tekrarlayan d\u00fc\u015f\u00fck ya da \u00f6l\u00fc do\u011fum \u00f6yk\u00fcs\u00fcn\u00fcn varl\u0131\u011f\u0131<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Daha \u00f6nceki gebelik sonucunda <a href=\"https:\/\/annebebekkulubu.com\/blog\/cocuk\/dudak-damak-yarikligina-bagli-dil-ve-konusma-bozukluklari\/\">yar\u0131k damak<\/a> dudak, kafa \u015fekil bozukluklar\u0131, do\u011fumsal kalp hastal\u0131klar\u0131, katarakt,\u00a0 omurga ve omurilik defektleri, kol ve bacaklarda anomali, genital anomaliler varsa\u00a0<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Ailede di\u011fer \u00e7ocuklardan birinde kistik fibroz, talasemi, oral h\u00fccreli anemi, kanama bozukluklar\u0131, \u00e7ocukluk \u00e7a\u011f\u0131 kanserleri, b\u00f6brek yap\u0131 bozukluklar\u0131, ciddi boy k\u0131sal\u0131klar\u0131, b\u00fcy\u00fcme gerili\u011fi gibi kronik hastal\u0131klar olmu\u015fsa<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Ailede saptanm\u0131\u015f kas hastal\u0131klar\u0131, \u00f6\u011frenme g\u00fc\u00e7l\u00fckleri, otizm, zeka gerili\u011fi, geli\u015fimsel gerilik, epilepsi gibi durumlar varsa<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Do\u011fu\u015ftan gelen ciddi i\u015fitme kusuru, retina bozuklu\u011fu gibi \u00f6yk\u00fcler mevcutsa ailede genetik dan\u0131\u015fma \u00f6nerilmektedir.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">T\u00fcm bu durumlarda gebeli\u011fin erken d\u00f6neminde koryon vill\u00fcs biyopsisi, amniyosentez, kordosentez gibi invazif y\u00f6ntemlerle elde edilen fetal \u00f6rneklerde kromozom analizi yap\u0131lmaktad\u0131r.<\/span><\/p>\n<p><strong>Hasta bir \u00e7ocuk d\u00fcnyaya getirme riski y\u00fcksek ailelerdir:<\/strong><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Daha \u00f6nceki \u00e7ocuklar\u0131nda bilinen bir &#8220;tek gen hastal\u0131\u011f\u0131&#8221; olanlar<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Kendisi veya e\u015finde bu tip bir genetik hastal\u0131k bulunan ebeveynler<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Ta\u015f\u0131y\u0131c\u0131 oldu\u011fu saptanan aileler\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\"> Bu gibi durumlarda aileler gebelikten \u00f6nce ayr\u0131nt\u0131l\u0131 olarak incelenmeli, saptanan hastal\u0131\u011f\u0131n tipine g\u00f6re testler yap\u0131lmal\u0131 ve sonras\u0131nda gebelik planlanmal\u0131d\u0131r.<\/span><\/p>\n<figure id=\"attachment_11372\" aria-describedby=\"caption-attachment-11372\" style=\"width: 1000px\" class=\"wp-caption alignnone\"><img decoding=\"async\" class=\"size-full wp-image-11372\" src=\"https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/children-with-down-syndrome-drawing-having-fun.jpg?resize=696%2C464&#038;ssl=1\" alt=\"Genetik dan\u0131\u015fma nedir?\" width=\"696\" height=\"464\" srcset=\"https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/children-with-down-syndrome-drawing-having-fun.jpg?w=1000&amp;ssl=1 1000w, https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/children-with-down-syndrome-drawing-having-fun.jpg?resize=300%2C200&amp;ssl=1 300w, https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/children-with-down-syndrome-drawing-having-fun.jpg?resize=768%2C512&amp;ssl=1 768w, https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/children-with-down-syndrome-drawing-having-fun.jpg?resize=696%2C464&amp;ssl=1 696w\" sizes=\"(max-width: 696px) 100vw, 696px\" data-recalc-dims=\"1\" \/><figcaption id=\"caption-attachment-11372\" class=\"wp-caption-text\">Genetik dan\u0131\u015fma nedir?<\/figcaption><\/figure>\n<h2><span class=\"ez-toc-section\" id=\"Toplumumuzda_gorulebilen_genetik_hastaliklarin_bir_kismi\"><\/span><strong>Toplumumuzda g\u00f6r\u00fclebilen genetik hastal\u0131klar\u0131n bir k\u0131sm\u0131:<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><span style=\"font-weight: 400;\">Hemofili, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Talasemi, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Fenilketon\u00fcri, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Do\u011fumsal hipotiroidi,<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Kistik fibroz, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Biotin eksikli\u011fi, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Kas distrofileri, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Down sendromu(trizomi 21), <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Trizomi 18, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">Turner sendromu, <\/span><\/li>\n<li><span style=\"font-weight: 400;\">N\u00f6ral t\u00fcp defektleri(spina bifida gibi)\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Bir Akdeniz \u00fclkesi olan \u00fclkemizde talasemi a\u00e7\u0131s\u0131ndan olduk\u00e7a y\u00fcksek oranda ta\u015f\u0131y\u0131c\u0131l\u0131k s\u00f6z konusudur. Bu nedenle <strong>evlilik ve gebelik \u00f6ncesi talasemi a\u00e7\u0131s\u0131ndan tarama testleri<\/strong> g\u00fcn\u00fcm\u00fczde rutin yap\u0131lmaktad\u0131r.<\/span><\/p>\n<p><b>Akraba evlilikleri nadir otozomal resesif hastal\u0131klar\u0131n hastal\u0131klar\u0131n daha s\u0131k g\u00f6r\u00fclmesine yol a\u00e7ar! Toplumumuzun bu tip evliliklerin riskleri konusunda bilgilendirilmesi \u015fartt\u0131r.\u00a0<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Yenido\u011fanlarda tedavisi olanakl\u0131 metabolik ve endokrin baz\u0131 hastal\u0131klar (fenilketon\u00fcri, do\u011fumsal hipotiroidi, biotin eksikli\u011fi gibi) do\u011fumsal tarama testleri ile erken saptanabilir.<\/span><b> <\/b><\/p>\n<p><b>Bu nedenle <a href=\"https:\/\/annebebekkulubu.com\/blog\/bebek\/yenidogan-bebek-doktor-kontrolleri-ve-yenidogan-tarama-testleri\/\">yenido\u011fan tarama testleri<\/a>nin de ihmal edilmemesi gerekir.<\/b><\/p>\n<p><span style=\"font-weight: 400;\"><strong>Genetik hastal\u0131klar ile ilgili<\/strong><strong>\u00a0<\/strong>dilerseniz forum sayfam\u0131zda tecr\u00fcbeli annelerimizden destek alabilirsiniz! Siz de akl\u0131n\u0131za tak\u0131lanlar\u0131, merak ettiklerinizi veya \u00f6\u011frenmek istediklerinizi bize <strong><a href=\"https:\/\/forum.annebebekkulubu.com\/\">Forum Anne Bebek Kul\u00fcb\u00fc<\/a><\/strong> \u00fczerinden yazabilirsiniz. <strong>Kad\u0131nlar olarak birlikte g\u00fc\u00e7l\u00fcy\u00fcz!<\/strong>\u00a0\u00a0\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u00c7ocuklardaki genetik hastal\u0131klar nelerdir? Ta\u015f\u0131y\u0131c\u0131 olunan baz\u0131 hastal\u0131klar vard\u0131r. Genetik k\u00f6kenli hastal\u0131klar ve tespiti ile ilgili \u00c7ocuk Sa\u011fl\u0131\u011f\u0131 ve Hastal\u0131klar\u0131 Uzman\u0131 Dr. Serpil Can Anne Bebek Kul\u00fcb\u00fc i\u00e7in \u00e7ocuklarda g\u00f6r\u00fclen genetik hastal\u0131klar ve genetik dan\u0131\u015fma hakk\u0131nda merak edilenleri yazd\u0131. Genetik nedir? Genetik; kal\u0131t\u0131m s\u00fcrecini ve kal\u0131t\u0131mla ge\u00e7en \u00f6zellikleri canl\u0131larda inceleyen bilim dal\u0131d\u0131r. T\u0131bbi genetik; insanda [&hellip;]<\/p>\n","protected":false},"author":69,"featured_media":11371,"comment_status":"open","ping_status":"closed","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":""},"categories":[4,3,7],"tags":[],"class_list":{"0":"post-11366","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-aile","8":"category-cocuk","9":"category-saglik"},"jetpack_sharing_enabled":true,"jetpack_featured_media_url":"https:\/\/i0.wp.com\/annebebekkulubu.com\/blog\/wp-content\/uploads\/2021\/07\/woman-showing-children-with-down-syndrome-something-laptop.jpg?fit=1000%2C1000&ssl=1","jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts\/11366","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/users\/69"}],"replies":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/comments?post=11366"}],"version-history":[{"count":0,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/posts\/11366\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/media\/11371"}],"wp:attachment":[{"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/media?parent=11366"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/categories?post=11366"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/annebebekkulubu.com\/blog\/wp-json\/wp\/v2\/tags?post=11366"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}