{"id":72991,"date":"2020-10-29T10:50:36","date_gmt":"2020-10-29T10:50:36","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/sticklerjev-sindrom\/"},"modified":"2025-01-13T03:20:12","modified_gmt":"2025-01-13T03:20:12","slug":"sticklerjev-sindrom","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/sl\/diseases\/sticklerjev-sindrom\/","title":{"rendered":"Sticklerjev sindrom"},"content":{"rendered":"<p>Sticklerjev sindrom je genetsko progresivno stanje, ki se prena\u0161a od star\u0161ev do otroka. To se obi\u010dajno diagnosticira med obdobjem dojen\u010dka \/ otro\u0161tva. Za Sticklerjev sindrom so zna\u010dilne okvare o\u010di, videz obraza (nerazvite srednje obrazne kosti), razcepljeno nebo, majhna spodnja \u010deljust in te\u017eave s sklepi.<\/p>\n<p>To stanje vpliva na vezivno tkivo telesa (kolagen). Geni, ki nadzirajo sintezo kolagena in lahko povzro\u010dijo ta sindrom, so:<\/p>\n<ul>\n<li>COL2A1 &#8211; v 75% primerov in ga zato uvr\u0161\u010damo med Sticklerjev sindrom tipa 1<\/li>\n<li>COL11A1 &#8211; lahko vpliva na sklepe, sluh, vid; znan kot Sticklerjev sindrom tipa 2<\/li>\n<li>COL11A2 &#8211; vpliva samo na sklepe in sluh; znana kot Oto-spondilo-megaepifizna displazija<\/li>\n<li>Obstajata \u0161e dva gena COL9A1 in COL9A2, ki se nana\u0161ata na Sticklerjev sindrom tipa 4 oziroma 5.<\/li>\n<\/ul>\n<p>Ta sindrom lahko prizadene oba spola.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"simptomi\">Simptomi<\/h2>\n<p>Simptomi Sticklerjevega sindroma so:<\/p>\n<ul>\n<li>Te\u017eave z o\u010dmi, kot so kratkovidnost, glavkom, katarakta, odvajanje mre\u017enice<\/li>\n<li>Te\u017eave s sluhom &#8211; ve\u010dinoma prizadenejo sluh visoke frekvence<\/li>\n<li>Nepravilnosti kosti in sklepov &#8211; ti bolniki imajo pro\u017ene sklepe, lahko razvijejo skoliozo<\/li>\n<li>Trdi sklepi<\/li>\n<li>Zgodnja bolezen sklepov, ki vodi v osteoartritis v poznej\u0161em \u017eivljenju<\/li>\n<li>Krhko nebo, submukozno ali visoko obokano nebo<\/li>\n<li>Manj\u0161a spodnja \u010deljust<\/li>\n<li>Ploski obraz, majhen nos, malo nosnega mostu ali brez njega<\/li>\n<li>Prolaps mitralne zaklopke<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h2 id=\"vzroki\">Vzroki<\/h2>\n<p>Vzrok Sticklerjevega sindroma je mutacija nekaterih genov kolagena, ki jih je podedoval prizadeti star\u0161, najpogosteje geni kolagena, ki v o\u010deh proizvajajo sklepni hrustanec in steklasti \u017eele.<\/p>\n<p>Zelo redki so primeri, ko se ta sindrom razvije, ne da bi prizadel star\u0161a. V tem primeru je posledica naklju\u010dne mutacije genov.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"dejavniki-tveganja\">Dejavniki tveganja<\/h2>\n<p>Tveganje za razvoj Sticklerjevega sindroma je, \u010de je prizadet eden od star\u0161ev.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"zapleti\">Zapleti<\/h2>\n<p>Zapleti Sticklerjevega sindroma so:<\/p>\n<ul>\n<li>mo\u017eno te\u017eko hranjenje, \u010de se otrok rodi z razcepljenim nebom<\/li>\n<li>zobne te\u017eave, \u010de je manj\u0161a \u010deljust<\/li>\n<li>u\u0161esne oku\u017ebe<\/li>\n<li>slepota pri glavkomu ali katarakti<\/li>\n<li>te\u017eave s srcem<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-72991","disease","type-disease","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Sticklerjev sindrom - Humanitas.net<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"sl_SI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sticklerjev sindrom - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"Sticklerjev sindrom je genetsko progresivno stanje, ki se prena\u0161a od star\u0161ev do otroka. 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