{"id":189178,"date":"2023-02-21T08:03:31","date_gmt":"2023-02-21T07:03:31","guid":{"rendered":"https:\/\/sdk.mk\/?p=189178"},"modified":"2023-02-21T08:03:31","modified_gmt":"2023-02-21T07:03:31","slug":"ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMI ADNP"},"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><a href=\"https:\/\/www.youtube.com\/watch?v=_e7Jdx_ZsA0&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=21\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Sindromi ADNP\/Sindromi Helsmoortel-Van DerAa<\/strong><\/em><\/a><br \/>\nICD: Q87.0<br \/>\nPrevalenca : 1-9\/100.000<\/p>\n<p>Sindromi ADNP, e njohur gjithashtu si sindromi Helsmortel-Van DerAa, \u00ebsht\u00eb s\u00ebmundje gjenetike neuro-zhvillimore autosomale-dominuese e shkaktuar nga mutacionet n\u00eb gjenin ADNP q\u00eb ndodhin spontanisht n\u00eb 97% t\u00eb rasteve, q\u00eb do t\u00eb thot\u00eb se nuk ka histori familjare t\u00eb s\u00ebmundjes (&#8220;de novo&#8221; mutacionet). ADNP shkaktohet nga nj\u00eb mutacion n\u00eb gjenin e varur nga aktiviteti i protein\u00ebs neuroprotektive q\u00eb ndodhet n\u00eb krahun e gjat\u00eb t\u00eb kromozomit 20 (20q12). Kur ndodh ky mutacion, produkti proteinik mund t\u00eb mungoj\u00eb, t\u00eb jet\u00eb i d\u00ebmtuar, joefektiv ose i prodhuar me tepric\u00eb. N\u00eb var\u00ebsi t\u00eb funksioneve t\u00eb protein\u00ebs s\u00eb caktuar, nj\u00eb num\u00ebr i madh i sistemeve t\u00eb organeve mund t\u00eb preken, duke p\u00ebrfshir\u00eb trurin. N\u00ebse varianti patogjenetik ADNP identifikohet n\u00eb nj\u00eb an\u00ebtar t\u00eb familjes, k\u00ebrkohet testimi prenatal.<br \/>\nNumri i sakt\u00eb i pacient\u00ebve t\u00eb diagnostikuar nuk dihet, por sipas disa t\u00eb dh\u00ebnave \u00ebsht\u00eb 1 n\u00eb 20,000 t\u00eb popullsis\u00eb n\u00eb Shtetet e Bashkuara dhe Evrop\u00eb. Ashtu si shum\u00eb s\u00ebmundje t\u00eb tjera t\u00eb rralla, edhe n\u00eb k\u00ebt\u00eb rast, sindroma ADNP mund t\u00eb mbetet e padiagnostikuar, gj\u00eb q\u00eb kontribuon n\u00eb pamund\u00ebsin\u00eb e p\u00ebrcaktimit t\u00eb shpesht\u00ebsis\u00eb n\u00eb popullat\u00ebn e p\u00ebrgjithshme. Sindroma ADNP mendohet t\u00eb jet\u00eb e pranishme n\u00eb rreth 0.17% t\u00eb individ\u00ebve me autiz\u00ebm. Deri m\u00eb tani, rreth 250 f\u00ebmij\u00eb jan\u00eb diagnostikuar n\u00eb bot\u00eb, t\u00eb p\u00ebrshkruara n\u00eb literatur\u00eb.<br \/>\nVe\u00e7orit\u00eb klinike:<\/p>\n<p><strong>Karakterizohet nga:<\/strong><br \/>\n&#8211; hipotonia, d.m.th pamund\u00ebsia p\u00ebr t&#8217;u ulur dhe p\u00ebr t\u00eb ecur n\u00eb m\u00ebnyr\u00eb t\u00eb pavarur, shtat i shkurt\u00ebr, pubertet i hersh\u00ebm, mungesa e hormonit t\u00eb rritjes;<br \/>\n&#8211; t\u00eb folurit e vonuar;<br \/>\n&#8211; \u00c7\u2019rregullime t\u00eb d\u00ebgjimit: ngushtim i kanalit t\u00eb veshit, inflamacion i shpesht\u00eb i veshit t\u00eb mes\u00ebm deri n\u00eb humbje t\u00eb d\u00ebgjimit;<br \/>\n&#8211; paaft\u00ebsi intelektuale e moderuar deri n\u00eb gjendje t\u00eb r\u00ebnd\u00eb;<br \/>\n&#8211; ndryshime karakteristike t\u00eb fytyr\u00ebs si: balli i duksh\u00ebm, hunda e gjer\u00eb dhe e shkurt\u00ebr;<br \/>\n&#8211; spekt\u00ebr me \u00e7rregullime autike, ndryshimet neurologjike (epilepsi, kriza fokale);<br \/>\n&#8211; v\u00ebshtir\u00ebsi n\u00eb t\u00eb ushqyer, refluks gastroezofageal, t\u00eb vjella t\u00eb shpeshta;<br \/>\n&#8211; probleme me shikimin, strabiz\u00ebm, katarakt kongjenital, koloboma:<br \/>\n&#8211; \u00c7\u2019rregullime t\u00eb duarve dhe k\u00ebmb\u00ebve si polidaktilia, klinodaktilia, k\u00ebmba e shesht\u00eb;<br \/>\n&#8211; anomalit\u00eb e sistemit muskuloskeletor si skolioza, deformimet e kraharorit, hipermobiliteti i ky\u00e7eve, deformimet e kafk\u00ebs;<br \/>\n&#8211; problemet e zemr\u00ebs (defekti i septumit atrial dhe ventral, prolapsi i valvul\u00ebs mitrale);<br \/>\n&#8211; sistemi urinar (ureter\u00eb t\u00eb ngushtuar, refluks bilateral vezikoureteral);<br \/>\n&#8211; infeksione t\u00eb shpeshta t\u00eb rrug\u00ebve t\u00eb sip\u00ebrme respiratore dhe urinare.<br \/>\nF\u00ebmij\u00ebt me sindrom\u00ebn ADNP n\u00eb mosh\u00eb t\u00eb hershme kan\u00eb nj\u00eb tendenc\u00eb p\u00ebr t&#8217;u arg\u00ebtuar leht\u00ebsisht dhe kan\u00eb nj\u00eb sjellje t\u00eb lumtur t\u00eb ngjashme me sindrom\u00ebn Agelman. Kjo shpesh vonon diagnoz\u00ebn e \u00e7\u2019rregullimeve t\u00eb sjelljes, si autizmi, meq\u00eb f\u00ebmija shfaq shum\u00eb karakteristika autike m\u00eb von\u00eb n\u00eb jet\u00eb. Mund t\u00eb shfaqen gjithashtu \u00e7\u2019rregullime t\u00eb gjumit, duke p\u00ebrfshir\u00eb apnen\u00eb e gjumit, zgjimet e shpeshta gjat\u00eb nat\u00ebs dhe zgjimet e hershme. Shumica e f\u00ebmij\u00ebve t\u00eb prekur mund t\u00eb plot\u00ebsojn\u00eb kriteret p\u00ebr nj\u00eb \u00e7\u2019rregullim t\u00eb spektrit t\u00eb autizmit dhe mund t\u00eb shfaqin nd\u00ebrveprim t\u00eb dob\u00ebt shoq\u00ebror dhe sjellje t\u00eb buta deri t\u00eb r\u00ebnda p\u00ebrs\u00ebrit\u00ebse (stereotipike) si t\u00eb folurit e p\u00ebrs\u00ebritur, l\u00ebkundjet p\u00ebrpara dhe mbrapa, tundja e duarve, duartrokitja, f\u00ebrkimi i gishtit dhe k\u00ebrcitja e gishtave (93%) .F\u00ebmij\u00ebt me sindrom\u00ebn ADNP shpesh kan\u00eb dhimbje me prag t\u00eb lart\u00eb (64%). Shum\u00eb prind\u00ebr raportojn\u00eb se f\u00ebmija i tyre nuk ndjen dhimbje, dhe disa raportojn\u00eb fraktura pa shqet\u00ebsime t\u00eb r\u00ebnd\u00ebsishme ose dhimbje torturuese. Perceptimi i ul\u00ebt i dhimbjes n\u00eb lidhje me problemet e komunikimit mund ta b\u00ebj\u00eb m\u00eb t\u00eb v\u00ebshtir\u00eb p\u00ebr prind\u00ebrit q\u00eb t\u00eb din\u00eb kur f\u00ebmija i tyre ka dhimbje apo kur \u00ebsht\u00eb l\u00ebnduar.<\/p>\n<p><strong>Diagnoza:<\/strong><br \/>\nDiagnoza vendoset nga testimi gjenetik molekular, i cili mund t\u00eb zbuloj\u00eb mutacione n\u00eb gjenin ADNP. Testimi i mutacionit t\u00eb gjeneve p\u00ebrfshin sekuenc\u00ebn e t\u00eb gjith\u00eb gjenomit. Testimi prenatal \u00ebsht\u00eb gjithashtu i mundur. Imazhi i rezonanc\u00ebs magnetike tregon lezione atipike n\u00eb l\u00ebnd\u00ebn e bardh\u00eb, barkushe t\u00eb gjera, corpus callosum t\u00eb pazhvilluar, atrofi cerebrale, displazi kortikale dhe kiste koroide. K\u00ebshillimi gjenetik rekomandohet p\u00ebr f\u00ebmij\u00ebt dhe familjet e prekura.<\/p>\n<p><strong>Mjekimi:<\/strong><br \/>\nTrajtimi \u00ebsht\u00eb simptomatik pasi ende nuk ka terapi specifike. K\u00ebrkohet nj\u00eb qasje multidisiplinore nga nj\u00eb neurolog, gastroenterohepatolog, kardiolog, nefrolog, otorinolaringolog, fiziat\u00ebr, si dhe psikolog.F\u00ebmij\u00ebt e prekur mund t\u00eb p\u00ebrfitojn\u00eb nga terapia profesionale, fizikale dhe e t\u00eb folurit.Disa f\u00ebmij\u00eb k\u00ebrkojn\u00eb terapi t\u00eb p\u00ebrditshme gjat\u00eb gjith\u00eb vitit. Uji dhe terapia muzikore ishin gjithashtu t\u00eb dobishme n\u00eb disa f\u00ebmij\u00eb t\u00eb prekur.<\/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>Sindromi ADNP\/Sindromi Helsmoortel-Van DerAa ICD: Q87.0 Prevalenca : 1-9\/100.000 Sindromi ADNP, e njohur gjithashtu si sindromi Helsmortel-Van DerAa, \u00ebsht\u00eb s\u00ebmundje [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":189179,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/21-Helsmoortel-Van-Der-Aa-syndrome-2-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/21-Helsmoortel-Van-Der-Aa-syndrome-2-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"140","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: SINDROMI ADNP - \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-sindromi-adnp\/\" \/>\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: SINDROMI ADNP - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindromi ADNP\/Sindromi Helsmoortel-Van DerAa ICD: Q87.0 Prevalenca : 1-9\/100.000 Sindromi ADNP, e njohur gjithashtu si sindromi Helsmortel-Van DerAa, \u00ebsht\u00eb s\u00ebmundje [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp\/\" \/>\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=\"2023-02-21T07:03:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/21-Helsmoortel-Van-Der-Aa-syndrome-2.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1600\" \/>\n\t<meta property=\"og:image:height\" content=\"900\" \/>\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-sindromi-adnp\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/21-Helsmoortel-Van-Der-Aa-syndrome-2.png\",\"width\":1600,\"height\":900},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: SINDROMI ADNP - \\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-sindromi-adnp\/#primaryimage\"},\"datePublished\":\"2023-02-21T07:03:31+00:00\",\"dateModified\":\"2023-02-21T07:03:31+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-adnp\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\",\"name\":\"Biljana Nestoroska\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/189178"}],"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\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=189178"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/189178\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/189179"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=189178"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=189178"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=189178"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}