{"id":3233,"date":"2023-02-13T15:26:42","date_gmt":"2023-02-13T13:26:42","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=3233"},"modified":"2026-03-11T14:06:00","modified_gmt":"2026-03-11T12:06:00","slug":"od-1-3-2023-novorodenacki-probir-na-spinalnu-misicnu-atrofiju","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/od-1-3-2023-novorodenacki-probir-na-spinalnu-misicnu-atrofiju\/","title":{"rendered":"Od 1.3.2023. novoro\u0111ena\u010dki probir na spinalnu mi\u0161i\u0107nu atrofiju"},"content":{"rendered":"

Probir \u0107e se raditi ve\u0107 u rodili\u0161tu<\/h2>\n\n\n
\n
\"\"<\/figure>\n<\/div>\n\n\n

Kako je dr. sc. Milo\u0161 Brku\u0161anin rekao za portalZdravlje<\/a>:<\/p>\n\n\n\n

”Poznavanje geneti\u010dkog uzroka bolesti klju\u010dno je za prevenciju bolesti. A geneti\u010dki uzrok dobiva se pomo\u0107u geneti\u010dkog testa, razvoja lijekova i neonatalnog skrininga. Geneti\u010dki test dobiva se dijagnosti\u010dkim testiranjem same osobe tj. djeteta za kojeg se sumnja da ima SMA po ro\u0111enju ili prenatalno. Ali i testiranja potencijalnih nosioca bolesti. Provedba razli\u010ditih klini\u010dkih testiranja omogu\u0107uje razvoj i odobravanje za upotrebu razli\u010ditih geneti\u010dki dizajniranih lijekova koji ciljano djeluju na uzrok bolesti. Neonatalni skrining odnosno obavezna provedba skrininga prilikom ro\u0111enja djeteta i rano otkrivanje bolesti otvara jednake \u0161anse za svaku novoro\u0111enu bebu da terapiju dobije u pravo vrijeme, objasnio je\u00a0dr. sc. Milo\u0161 Brku\u0161anin<\/strong>.”<\/p>\n\n\n\n

<\/p>\n\n\n\n

Osim na SMA ( spinalnu mi\u0161i\u0107nu atrofiju), na KBC Zagreb provodi se probir na jo\u0161 8 rijetkih bolesti.<\/p>\n\n\n\n

Daria \u0160imi\u0107,\u00a0<\/strong>molekularni biolog, KBC Zagreb za Dnevnik.hr<\/a> rekla je: \u0160to se lijek kasnije primi, ova te\u0161ka bolest ostavlja vi\u0161e traga. Lijekovi zaustavljaju progresiju bolesti i pobolj\u0161avaju ishod.
Zato je otkrivanje probirom ve\u0107 u rodili\u0161tu klju\u010dno.\u00a0<\/p>","protected":false},"excerpt":{"rendered":"

Probir \u0107e se raditi ve\u0107 u rodili\u0161tu Kako je dr. sc. Milo\u0161 Brku\u0161anin rekao za portalZdravlje: ”Poznavanje geneti\u010dkog uzroka bolesti klju\u010dno je za prevenciju bolesti. A geneti\u010dki uzrok dobiva se pomo\u0107u geneti\u010dkog testa, razvoja lijekova i neonatalnog skrininga. Geneti\u010dki test dobiva se dijagnosti\u010dkim testiranjem same…<\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-3233","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nOd 1.3.2023. novoro\u0111ena\u010dki probir na spinalnu mi\u0161i\u0107nu atrofiju - Hrvatski savez za rijetke bolesti<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/rijetke-bolesti.com\/en\/od-1-3-2023-novorodenacki-probir-na-spinalnu-misicnu-atrofiju\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Od 1.3.2023. novoro\u0111ena\u010dki probir na spinalnu mi\u0161i\u0107nu atrofiju - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Probir \u0107e se raditi ve\u0107 u rodili\u0161tu Kako je dr. sc. Milo\u0161 Brku\u0161anin rekao za portalZdravlje: ”Poznavanje geneti\u010dkog uzroka bolesti klju\u010dno je za prevenciju bolesti. A geneti\u010dki uzrok dobiva se pomo\u0107u geneti\u010dkog testa, razvoja lijekova i neonatalnog skrininga. 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