{"id":72724,"date":"2020-11-04T14:21:04","date_gmt":"2020-11-04T14:21:04","guid":{"rendered":"http:\/\/humanitasnet-new.local\/malattie\/digeorgejev-sindrom\/"},"modified":"2025-01-13T03:16:32","modified_gmt":"2025-01-13T03:16:32","slug":"digeorgejev-sindrom","status":"publish","type":"disease","link":"https:\/\/humanitas-net.humweb.webiz.team\/sl\/diseases\/digeorgejev-sindrom\/","title":{"rendered":"DiGeorgejev sindrom"},"content":{"rendered":"<p>DiGeorgejev sindrom, imenovan tudi sindrom brisanja 22q11, je motnja, ki jo povzro\u010di napaka kromosoma 22 ob rojstvu. Posledica tega je slab razvoj ve\u010d telesnih sistemov, kar povzro\u010da sr\u010dne napake, nizko raven kalcija v krvi, \u0161ibek imunski sistem, u\u010dne te\u017eave in druge zdravstvene te\u017eave. DiGeorgejev sindrom velja za eno najresnej\u0161ih vrst brisanja 22q11, vrste zdravljenja pa so odvisne od resnosti simptomov.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"simptomi\">Simptomi<\/h2>\n<p>Znaki in simptomi DiGeorge sindroma lahko vklju\u010dujejo naslednje:<\/p>\n<ul>\n<li>Te\u017eavno dihanje<\/li>\n<li>Te\u017eave s hormonom in rastjo<\/li>\n<li>Nezmo\u017enost pridobivanja te\u017ee<\/li>\n<li>Govorna okvara<\/li>\n<li>Nesposobnost u\u010denja<\/li>\n<li>Slaba prekrvavitev (sr\u010dna napaka)<\/li>\n<li>Modrikasto ko\u017eo<\/li>\n<li>Slab mi\u0161i\u010dni tonus<\/li>\n<li>Pogoste oku\u017ebe<\/li>\n<li>\u0160ibek imunski sistem<\/li>\n<li>Prebavne te\u017eave<\/li>\n<li>Trzanje<\/li>\n<li>Vrzel v strehi ustja (razcepno nebo)<\/li>\n<li>\u010custvene te\u017eave<\/li>\n<\/ul>\n<h2 id=\"\"><\/h2>\n<h2 id=\"vzroki\">Vzroki<\/h2>\n<p>DiGeorgejev sindrom povzro\u010da brisanje dela kromosoma 22. Vsak posameznik ima dve kopiji kromosoma 22, eno je podedoval od matere, drugo pa od o\u010deta. Vsak kromosom ima dolgo roko, imenovano &#8220;q&#8221; in kratko roko, imenovano &#8220;p&#8221;. Pri brisanju 22q11 manjka majhen del\u010dek dolge roke kromosoma 22 (na polo\u017eaju 11). Tako naj bi pri posamezniku, ki trpi za sindromom DiGeorge, manjkalo 30 do 40 genov. Izbris genov se lahko zgodi \u017ee v \u010dasu razvoja ploda in povzro\u010di razli\u010dne spremembe v otrokovem telesnem sistemu.<\/p>\n<p>&nbsp;<\/p>\n<h2 id=\"zapleti\">Zapleti<\/h2>\n<p>Pogosti zapleti, ki izhajajo iz sindroma DiGeorge, vklju\u010dujejo naslednje:<\/p>\n<ul>\n<li>Napake srca<\/li>\n<li>Nizka raven kalcija v krvi<\/li>\n<li>Vrzel v strehi ustja (razcepno nebo)<\/li>\n<li>Videz (majhni zobje, \u0161iroko postavljene o\u010di, majhne o\u010di, dolg obraz ali splo\u0161\u010den utor v zgornji ustnici)<\/li>\n<li>Pogoste oku\u017ebe (disfunkcija timusne \u017eleze)<\/li>\n<li>Slab vid<\/li>\n<li>Slabo delovanje ledvic<\/li>\n<li>Govorna okvara<\/li>\n<li>Nesposobnost u\u010denja<\/li>\n<li>Vedenjska vpra\u0161anja<\/li>\n<li>Zdravstveni problemi<\/li>\n<li>Avtoimunske motnje<\/li>\n<\/ul>\n<h2 id=\"preventiva\">Preventiva<\/h2>\n<p>\u010ceprav sindroma DiGeorge ni mogo\u010de prepre\u010diti, se posvetovanje z zdravnikom, ki je specializirano za genetske motnje ali jemlje genetsko svetovanje, priporo\u010da star\u0161em otrok z DiGeorgeovim sindromom in tistim, ki potrebujejo pomo\u010d pri na\u010drtovanju prihodnjih nose\u010dnosti s tveganjem, da bodo motnjo prenesli na otrok. Prav tako morajo bolniki sprejeti previdnostne ukrepe, da se prepre\u010dijo oku\u017ebe, povezane z boleznijo, na primer temeljito umivanje rok z milom in vodo ter izogibanje tesnemu stiku s posamezniki, ki imajo nalezljive bolezni.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-72724","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>DiGeorgejev 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=\"DiGeorgejev sindrom - Humanitas.net\" \/>\n<meta property=\"og:description\" content=\"DiGeorgejev sindrom, imenovan tudi sindrom brisanja 22q11, je motnja, ki jo povzro\u010di napaka kromosoma 22 ob rojstvu. Posledica tega je slab razvoj ve\u010d telesnih sistemov, kar povzro\u010da sr\u010dne napake, nizko raven kalcija v krvi, \u0161ibek imunski sistem, u\u010dne te\u017eave in druge zdravstvene te\u017eave. 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Posledica tega je slab razvoj ve\u010d telesnih sistemov, kar povzro\u010da sr\u010dne napake, nizko raven kalcija v krvi, \u0161ibek imunski sistem, u\u010dne te\u017eave in druge zdravstvene te\u017eave. 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