{"id":165889,"date":"2022-02-13T09:16:27","date_gmt":"2022-02-13T08:16:27","guid":{"rendered":"https:\/\/sdk.mk\/?p=165889"},"modified":"2022-02-13T09:16:27","modified_gmt":"2022-02-13T08:16:27","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA E DIGEORGE"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><strong>Sindroma e DiGeorge\/DiGeorge syndrome<\/strong><\/p>\n<p>Prevalenca: 1\/2 &#8211; 4.000<\/p>\n<p>Sindroma e DiGeorge, e njohur edhe si Sindromi Velokardiofacial, ose Sindromi i Delecionit kromozomal 22q11.2, i p\u00ebrket grupit t\u00eb imunodeficiencave. Gjendja karakterizohet me probleme t\u00eb lindura t\u00eb zemr\u00ebs, tipare karakteristike t\u00eb fytyr\u00ebs, infeksione t\u00eb shpeshta, \u00e7arje t\u00eb qiellz\u00ebs \/ goj\u00ebs, pengesa intelektuale dhe probleme shkollore. Mund t\u00eb bashk\u00ebngjiten edhe problemet e veshkave, humbja e d\u00ebgjimit dhe s\u00ebmundjet autoimune, t\u00eb tilla si s\u00ebmundjet reumatoide ose tiroide.<br \/>\nKjo sindrom\u00eb u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb nga endokrinologu Angelo Di George n\u00eb vitet 1960, haset nj\u00eblloj n\u00eb t\u00eb dy gjinit\u00eb, dhe n\u00eb var\u00ebsi t\u00eb ashp\u00ebrsis\u00eb s\u00eb pamjes klinike dallohet menj\u00ebher\u00eb pas lindjes ose n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme. Sindroma DiGeorge \u00ebsht\u00eb nj\u00eb nga s\u00ebmundjet gjenetike m\u00eb t\u00eb zakonshme q\u00eb shoq\u00ebrohet me paaft\u00ebsi intelektuale.<\/p>\n<p><strong>Shkaqet, trash\u00ebgimia dhe k\u00ebshillimi gjenetik:<\/strong><\/p>\n<p>Kjo gjendje gjenetike \u00ebsht\u00eb nj\u00eb sindrom\u00eb e mikrodelecionit autosomal dominues q\u00eb ndodh p\u00ebr shkak t\u00eb fshirjes kromozomale (humbja e materialit gjenetik) n\u00eb krahun e gjat\u00eb t\u00eb kromozomit 22 n\u00eb rajonin 22q11.2. N\u00eb shumic\u00ebn e rasteve, fshirja ndodh nga e para, de novo, q\u00eb do t\u00eb thot\u00eb se nuk \u00ebsht\u00eb e trash\u00ebguar nga prind\u00ebrit, dhe n\u00eb p\u00ebrgjith\u00ebsi rreziku i p\u00ebrs\u00ebritjes s\u00eb gjendjes n\u00eb shtatz\u00ebnin\u00eb e ardhshme \u00ebsht\u00eb relativisht i vog\u00ebl. N\u00eb rreth 10% t\u00eb rasteve (1 n\u00eb 10), trash\u00ebgohet nga nj\u00ebri prind, duke ndjekur modelin e trash\u00ebgimis\u00eb autosomale dominuese. N\u00eb k\u00ebt\u00eb rast ekziston mund\u00ebsia e trash\u00ebgimit t\u00eb fshirjes n\u00eb shtatz\u00ebnin\u00eb tjet\u00ebr n\u00eb 50% t\u00eb rasteve (ose 1 n\u00eb 2). N\u00eb rastet familjare q\u00eb kan\u00eb nj\u00eb f\u00ebmij\u00eb me k\u00ebt\u00eb sindrom\u00eb ekziston nj\u00eb mund\u00ebsi p\u00ebr k\u00ebshillim gjenetik n\u00eb m\u00ebnyr\u00eb q\u00eb prind\u00ebrit t\u00eb kuptojn\u00eb gjenetik\u00ebn e k\u00ebsaj gjendje, t\u00eb m\u00ebsojn\u00eb p\u00ebr m\u00ebnyr\u00ebn e trash\u00ebgimis\u00eb dhe mund\u00ebsin\u00eb e p\u00ebrs\u00ebritjes s\u00eb gjendjes n\u00eb shtatz\u00ebnit\u00eb pasuese dhe t\u00eb marrin mb\u00ebshtetje n\u00eb marrjen e vendimeve q\u00eb jan\u00eb n\u00eb p\u00ebrputhje me vlerat dhe planin e tyre t\u00eb jet\u00ebs.<\/p>\n<p><strong>Simptomat:<\/strong><\/p>\n<p>Nj\u00eb nga sfidat kryesore t\u00eb lidhura me sindromin velokardiofacial \u00ebsht\u00eb ndryshueshm\u00ebria e saj e lart\u00eb klinike. Edhe pse n\u00eb shumic\u00ebn e personave me k\u00ebt\u00eb gjendje, delecioni \u00ebsht\u00eb tipik dhe mbulon t\u00eb nj\u00ebjtin rajon prej rreth 3 milion shkronjash n\u00eb molekul\u00ebn e ADN -s\u00eb, pasqyra klinike e s\u00ebmundjes \u00ebsht\u00eb shum\u00eb e ndryshueshme, madje edhe n\u00eb t\u00eb nj\u00ebjt\u00ebn familje n\u00eb t\u00eb cil\u00ebn ka m\u00eb shum\u00eb persona t\u00eb prekur.<\/p>\n<p>P\u00ebr shembull, 60-70% e rasteve kan\u00eb nj\u00eb defekt t\u00eb lindur n\u00eb zem\u00ebr, kurse manifestimet e tjera t\u00eb zakonshme q\u00eb hasen jan\u00eb \u00e7arja e qiellz\u00ebs, tiparet karakteristike t\u00eb fytyr\u00ebs, imunodeficienca dhe v\u00ebshtir\u00ebsit\u00eb n\u00eb t\u00eb m\u00ebsuar. P\u00ebrve\u00e7 k\u00ebsaj, nj\u00eb num\u00ebr rastesh kan\u00eb manifestime endokrine t\u00eb tilla si s\u00ebmundje t\u00eb tiroides, munges\u00eb e hormonit t\u00eb rritjes, kalcium t\u00eb ul\u00ebt, \u00e7rregullime t\u00eb sistemit imunitar t\u00eb manifestuara si s\u00ebmundje autoimune ose imunodeficienc\u00eb, probleme skeletore si skolioza.<\/p>\n<p>Disa pacient\u00eb zhvillojn\u00eb \u00e7rregullime neuropsikiatrike dhe probleme kognitive &#8211; rreth 25% (ose 1 n\u00eb 4) e njer\u00ebzve q\u00eb jetojn\u00eb me k\u00ebt\u00eb gjendje mund t\u00eb ken\u00eb skizofreni n\u00eb nj\u00eb moment t\u00eb jet\u00ebs s\u00eb tyre.<\/p>\n<p><strong>Diagnoza:<\/strong><\/p>\n<p>Diagnoza bazohet n\u00eb dyshimin klinik t\u00eb k\u00ebtij ose nj\u00eb sindromi t\u00eb ngjash\u00ebm t\u00eb mikrodelecionit q\u00eb sygjeron testimin citogjenetik molekular me nj\u00eb bio\u00e7ip kromozomik (mikroarej), MLPA, hibridizim fluoreshent in-situ ose nj\u00eb metod\u00eb t\u00eb ngjashme. Nj\u00eb rezultat pozitiv p\u00ebr delecion heterozigot (humbja e materialit gjenetik n\u00eb nj\u00ebrin nga dy kromozomet 22) diagnostikon k\u00ebt\u00eb sindrom\u00eb.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Trajtimi i k\u00ebsaj gjendje \u00ebsht\u00eb multidisiplinar dhe konsiston n\u00eb trajtimin e manifestimeve t\u00eb ndryshme t\u00eb s\u00ebmundjes, p\u00ebr shembull defekti i lindur i zemr\u00ebs trajtohet sipas rekomandimeve t\u00eb nj\u00eb kardiologu; trajtimi i qiellz\u00ebs s\u00eb \u00e7ar\u00eb p\u00ebrfshin nj\u00eb otolaringolog; infeksionet e shpeshta k\u00ebrkojn\u00eb trajtim agresiv me antibiotik\u00eb, rrall\u00eb me antibiotik\u00eb profilaktik\u00eb ose imunoglobulina intravenoze; trajtimi i s\u00ebmundjeve autoimune p\u00ebrfshin nj\u00eb specialist n\u00eb fush\u00ebn p\u00ebrkat\u00ebse; n\u00eb hipokalcemi, suplementimi i kalciumit \u00ebsht\u00eb i nevojsh\u00ebm dhe mungesa e hormonit t\u00eb rritjes trajtohet me hormon t\u00eb rritjes. Her\u00eb pas here ka nevoj\u00eb p\u00ebr terapi fizike, terapi e t\u00eb folurit me futjen e gjuh\u00ebs s\u00eb shenjave n\u00eb mosh\u00ebn nj\u00eb vje\u00e7e, si dhe mb\u00ebshtetje dhe trajtim t\u00eb problemeve t\u00eb sjelljes dhe simptomave psikiatrike.<\/p>\n<p>N\u00eb k\u00ebt\u00eb gjendje ka rekomandime t\u00eb caktuara p\u00ebr monitorimin e rregullt t\u00eb pacient\u00ebve, t\u00eb tilla si: kontrollimi i nivelit t\u00eb antitrupave p\u00ebr t\u00eb par\u00eb zhvillimin e antitrupave pas vaksinimit; testimi i funksionit imunitar para administrimit t\u00eb vaksinave t\u00eb gjalla; kontroll vjetor i hemogram\u00ebs, matja e kalciumit n\u00eb serum \u00e7do 3 deri n\u00eb 6 muaj n\u00eb f\u00ebmij\u00ebri, dhe 1 deri n\u00eb 2 vjet n\u00eb nj\u00eb mosh\u00eb t\u00eb m\u00ebvonshme, dhe rregullisht gjat\u00eb shtatz\u00ebnis\u00eb; test vjetor i funksionit t\u00eb tiroides; ekzaminimi i syve n\u00eb mosh\u00ebn 1 deri n\u00eb 3 vje\u00e7; test d\u00ebgjimi n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme dhe para regjistrimit n\u00eb shkoll\u00eb; ekzaminimi vjetor i zhvillimit fizik dhe ekzaminimi p\u00ebr shfaqjen e mundshme t\u00eb skolioz\u00ebs; dhe kontrolloni tek dentisti \u00e7do 6 muaj. Personat me k\u00ebt\u00eb sindrom\u00eb duhet t\u00eb shmangin vaksinat e gjalla n\u00ebse kan\u00eb mosfunksionim limfocitik, si dhe pije t\u00eb gazuara q\u00eb mund t\u00eb thellojn\u00eb hipokalcemin\u00eb. Kafeja dhe pijet me kafein\u00eb mund t\u00eb rrisin dhe p\u00ebrkeq\u00ebsojn\u00eb ankthin.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sindroma e DiGeorge\/DiGeorge syndrome Prevalenca: 1\/2 &#8211; 4.000 Sindroma e DiGeorge, e njohur edhe si Sindromi Velokardiofacial, ose Sindromi i [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165890,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[57016],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/13-DiGeorge-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/13-DiGeorge-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"971","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA E DIGEORGE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/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:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA E DIGEORGE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma e DiGeorge\/DiGeorge syndrome Prevalenca: 1\/2 &#8211; 4.000 Sindroma e DiGeorge, e njohur edhe si Sindromi Velokardiofacial, ose Sindromi i [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-13T08:16:27+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/13-DiGeorge-syndrome-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/13-DiGeorge-syndrome-1.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: SINDROMA E DIGEORGE - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/#primaryimage\"},\"datePublished\":\"2022-02-13T08:16:27+00:00\",\"dateModified\":\"2022-02-13T08:16:27+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-digeorge\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\",\"name\":\"Goran Konev\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/165889"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/22"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=165889"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/165889\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/165890"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=165889"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=165889"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=165889"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}