{"id":49491,"date":"2025-06-23T10:04:07","date_gmt":"2025-06-23T10:04:07","guid":{"rendered":"https:\/\/radioorahovica.hr\/?p=49491"},"modified":"2025-06-23T10:04:07","modified_gmt":"2025-06-23T10:04:07","slug":"dan-podizanja-svijesti-o-sindromu-dravet","status":"publish","type":"post","link":"https:\/\/radioorahovica.hr\/?p=49491","title":{"rendered":"Dan podizanja svijesti o sindromu Dravet"},"content":{"rendered":"<p>Danas podsje\u0107amo svijet na djecu i obitelji koje svakodnevno \u017eive s jednom od najte\u017eih i najkompleksnijih oblika epilepsije &#8211; sindromom Dravet. <strong>Dravet sindrom je puno vi\u0161e od same epilepsije i epilepti\u010dnih napadaja. Osim \u0161to je rezistentan na antiepileptike ovaj sindrom prate te\u0161ko kontrolirani napadaji razli\u010ditih vrsta\u00a0 te\u00a0 razli\u010dite pridru\u017eene te\u0161ko\u0107e koje su kod nekih osoba vrlo brojne, ozbiljne i te\u0161ke. Uz intelektualne<\/strong>\u00a0te\u0161ko\u0107e javlja se i niz drugih\u00a0 poreme\u0107aja kao \u0161to su problemi u hodanju, spavanju , pona\u0161anju \u00a0te problemi s hranjenjem. Oko 17 % \u00a0bolesnika umire prije odrasle dobi. Bolest poga\u0111a\u00a0<strong><u>1 od 22.000<\/u><\/strong>\u00a0ljudi. U Republici Hrvatskoj je prema evidenciji Udruge Dravet sindrom Hrvatska dijagnosticirano\u00a0 \u00a0tridesetak oboljelih osoba dje\u010dje i odrasle dobi.<\/p>\n<p>Sindrom Dravet (DS) genski je uzrokovana encefalopatija okarakterizirana kao tvrdokorna epilepsija koja se pojavljuje u prvoj godini \u017eivota kod prethodno zdrave djece. U daljnjem tijeku bolesti javljaju se ka\u0161njenje u neurolo\u0161kom razvoju, motori\u010dke i govorne pote\u0161ko\u0107e i poreme\u0107aji pona\u0161anja. Dijagnoza se postavlja na temelju klini\u010dkih obilje\u017eja. Genski test kod 75-80 % oboljelih daje pozitivan rezultat na mutaciju gena SCN1A koji kodira alfa-podjedinicu naponskih natrijevih kanala Nav1.1. Povezanost genotipa i fenotipa nije dosljedna i jasno dokazana, a mutacije koje skra\u0107uju protein povezane su s lo\u0161ijim kognitivnim ishodom. Pribli\u017eno je 90% mutacija de novo (novonastalih). \u010clanovi obitelji koji su nositelji iste mutacije mogu biti asimptomatski ili s blagim klini\u010dkim znakovima.<\/p>\n<p>Lije\u010denje je simptomatsko s ciljem postizanja kontrole napadaja. Na\u017ealost, kod gotovo svih oboljelih, napadaji su tvrdokorni i prisutni tijekom \u017eivota. Ipak, smanjenje u\u010destalosti napadaja povezano je s boljom kvalitetom \u017eivota i ve\u0107om aktivno\u0161\u0107u tijekom dana. Kod dojen\u010dadi i djece mo\u017ee biti korisno izbjegavanje provociraju\u0107ih \u010dimbenika napadaja, poput sprje\u010davanja naglih promjena tjelesne temperature ili smanjivanja, na najmanju mogu\u0107u mjeru, ritmi\u010dkog podra\u017eivanja svjetlom i vidnim uzorcima. Postavljanjem dijagnoze, u terapijskom pristupu treba isklju\u010diti lijekove koji blokiraju natrijeve kanale poput karbamazepina i njegovih analoga (okskarbazepin i eslikarbazepin), lamotrigina i fenitoina za koje je poznato da pogor\u0161avaju u\u010destalost napadaja i kognitivni ishod. Drugi lijekovi koje bi bilo dobro izbjegavati su vigabatrin, tiagabin, pregabalin i gabapentin. Op\u0107eprihva\u0107enu prvu liniju u lije\u010denju \u010dine klobazam i natrijev valproat kojima se mo\u017ee dodati stiripentol. Koristi su zabilje\u017eene i primjenom topiramata, levetiracetama, terapijske primjene ketogene dijete te stimulacije vagusnog \u017eivca. Fenfluramin i kanabidiol su se nedavno pokazali dobrim opcijama lije\u010denja u provedenim klini\u010dkim istra\u017eivanjima.<\/p>\n<p>U proteklih petnaest godina u mnogim zemljama osnovane su Dravet udruge ili zaklade koje su ujedinjene u \u00a0Europsku federaciju Dravet sindroma (DSEF). Organiziranjem me\u0111unarodnih sastanaka na kojima stru\u010dnjaci razmjenjuju znanja i iskustva, ulaganjem u Registar pacijenata koji prikuplja podatke o Dravet sindromu te\u00a0 financiranjem znanstvenih istra\u017eivanja svi zajedno rade na boljoj kvaliteti \u017eivota za pacijente, obitelj , ali \u00a0i lije\u010dnike koji \u00a0nisu dovoljno informirani o ovoj rijetkoj bolesti.<\/p>\n<div dir=\"auto\">Saznajte vi\u0161e:<\/div>\n<ul>\n<li dir=\"auto\">Informativni letak: <span class=\"html-span xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x1hl2dhg x16tdsg8 x1vvkbs\"><a class=\"x1i10hfl xjbqb8w x1ejq31n x18oe1m7 x1sy0etr xstzfhl x972fbf x10w94by x1qhh985 x14e42zd x9f619 x1ypdohk xt0psk2 xe8uvvx xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x16tdsg8 x1hl2dhg xggy1nq x1a2a7pz xkrqix3 x1sur9pj x1fey0fg x1s688f\" tabindex=\"0\" role=\"link\" href=\"https:\/\/dravet-sindrom-hrvatska.hr\/wp-content\/uploads\/2023\/03\/Dravet-leaflet-HR.pdf?fbclid=IwZXh0bgNhZW0CMTAAYnJpZBEwQ0pqeTRHYk1RdUl4WkoxYwEemCRGBZtpu8w8i6jBM9qpv5JmrvX8KvbDMDY1yutKLIN19CSLPFS1abi-v-M_aem_RgFDIQdrYbGK7aTMhl-nEQ\" target=\"_blank\" rel=\"nofollow noopener noreferrer\">https:\/\/dravet-sindrom-hrvatska.hr\/&#8230;\/Dravet-leaflet-HR.pdf<\/a><\/span><\/li>\n<li dir=\"auto\">Putovanje oboljelog: <span class=\"html-span xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x1hl2dhg x16tdsg8 x1vvkbs\"><a class=\"x1i10hfl xjbqb8w x1ejq31n x18oe1m7 x1sy0etr xstzfhl x972fbf x10w94by x1qhh985 x14e42zd x9f619 x1ypdohk xt0psk2 xe8uvvx xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x16tdsg8 x1hl2dhg xggy1nq x1a2a7pz xkrqix3 x1sur9pj x1fey0fg x1s688f\" tabindex=\"0\" role=\"link\" href=\"https:\/\/dravet-sindrom-hrvatska.hr\/wp-content\/uploads\/2023\/03\/Dravet-PJ-HR.pdf?fbclid=IwZXh0bgNhZW0CMTAAYnJpZBEwQ0pqeTRHYk1RdUl4WkoxYwEe-VmpeK5OV6W2NJNkYAplS_dpSClkR3aFj9ruxE_VAN1WaiVJX3UFk_kvxXY_aem_m14HLQ6Nhbx2fjLyeUPOqQ\" target=\"_blank\" rel=\"nofollow noopener noreferrer\">https:\/\/dravet-sindrom-hrvatska.hr\/&#8230;\/03\/Dravet-PJ-HR.pdf<\/a><\/span><\/li>\n<\/ul>\n<p>(Izvor: dravet-sindrom-hrvatska.hr)<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Danas podsje\u0107amo svijet na djecu i obitelji koje svakodnevno \u017eive s jednom od najte\u017eih i najkompleksnijih oblika epilepsije<\/p>\n","protected":false},"author":2,"featured_media":49492,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-49491","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-hrvatska"],"featured_image_urls":{"full":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n.jpg",800,2000,false],"thumbnail":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-150x150.jpg",150,150,true],"medium":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-120x300.jpg",120,300,true],"medium_large":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-768x1920.jpg",640,1600,true],"large":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-410x1024.jpg",410,1024,true],"1536x1536":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-614x1536.jpg",614,1536,true],"2048x2048":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n.jpg",800,2000,false],"morenews-featured":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n.jpg",800,2000,false],"morenews-large":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-800x575.jpg",800,575,true],"morenews-medium":["https:\/\/radioorahovica.hr\/wp-content\/uploads\/2025\/06\/499965392_1150490117125342_2495169459288898855_n-590x410.jpg",590,410,true]},"author_info":{"display_name":"radio 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rel=\"category\">Hrvatska<\/a>","tag_info":"Hrvatska","comment_count":"0","_links":{"self":[{"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/posts\/49491","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=49491"}],"version-history":[{"count":1,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/posts\/49491\/revisions"}],"predecessor-version":[{"id":49493,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/posts\/49491\/revisions\/49493"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=\/wp\/v2\/media\/49492"}],"wp:attachment":[{"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=49491"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=49491"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/radioorahovica.hr\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=49491"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}