{"id":166460,"date":"2022-02-21T08:44:22","date_gmt":"2022-02-21T07:44:22","guid":{"rendered":"https:\/\/sdk.mk\/?p=166460"},"modified":"2022-02-21T08:44:22","modified_gmt":"2022-02-21T07:44:22","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-icf","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-icf\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA ICF"},"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 class=\"western\" lang=\"mk-MK\"><em><strong>Sindroma e imunodefi\u00e7enc\u00ebs, centromer\u00ebs jostabile dhe anomalive t\u00eb fytyr\u00ebs\/ICF syndrome; Immunodeficiency, Centromere Instability and Facial Anomalies<\/strong><\/em><\/p>\n<p class=\"western\" lang=\"mk-MK\">ICD &#8211; 10: D 84.8<\/p>\n<p class=\"western\" lang=\"mk-MK\">Prevalenca: &lt;1\/1.000.000<\/p>\n<p class=\"western\" lang=\"mk-MK\">Ky sindrom i p\u00ebrket grupit t\u00eb s\u00ebmundjeve imunodeficiente (munges\u00eb imuniteti). S\u00ebmundja s\u00eb pari shfaqet n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme me infeksione t\u00eb shpeshta dhe karakterizohet nga tiparet karakteristike t\u00eb fytyr\u00ebs (hiperteloriz\u00ebm &#8211; sy t\u00eb gj\u00ebra, epikantus &#8211; palosje e l\u00ebkur\u00ebs s\u00eb qepall\u00ebs s\u00eb sip\u00ebrme q\u00eb mbulon cepin e brendsh\u00ebm t\u00eb syrit; vesh\u00eb t\u00eb ul\u00ebt dhe makroglosi. &#8211; gjuh\u00eb e madhe), rritje dhe zhvillim i ngadalsh\u00ebm, dhe pengesa n\u00eb zhvillimin psikomotor. Niveli i imunoglobulinave \u00ebsht\u00eb i ul\u00ebt, dhe kjo vlen p\u00ebr t\u00eb gjitha klasat e imunoglobulinave (IgA, IgM, IgG, IgE).<\/p>\n<p class=\"western\" lang=\"mk-MK\">S\u00ebmundja \u00ebsht\u00eb e rrall\u00eb, me m\u00eb pak se 50 pacient\u00eb n\u00eb t\u00eb gjith\u00eb bot\u00ebn, dhe u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb fund t\u00eb viteve 1970. Vitet e fundit, numri i rasteve t\u00eb diagnostikuara \u00ebsht\u00eb rritur, duke treguar se s\u00ebmundja \u00ebsht\u00eb m\u00eb e shpesht\u00eb nga sa mendohej.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Shkaqet, trash\u00ebgimia dhe k\u00ebshillimi gjenetik:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">B\u00ebhet fjal\u00eb p\u00ebr nj\u00eb gjendje gjenetike autosomale recesive p\u00ebr shkak t\u00eb varianteve patogjene n\u00eb nj\u00eb nga gjenet e m\u00ebposht\u00ebm: DNMT3B, CDCA7, HELLS, ZBTB24. S\u00ebmundja trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale recesive, q\u00eb do t\u00eb thot\u00eb se pacienti ka trash\u00ebguar nga nj\u00eb variant patogjen nga t\u00eb dy prind\u00ebrit t\u00eb cil\u00ebt jan\u00eb bart\u00ebs t\u00eb sh\u00ebndetsh\u00ebm t\u00eb s\u00ebmundjes (heterozigot\u00eb). Pacienti \u00ebsht\u00eb ose homozigot (i nj\u00ebjti variant gjenetik patogjen trash\u00ebgohet nga t\u00eb dy prind\u00ebrit) ose nj\u00eb heterozigot kompleks (nj\u00eb variant i ndrysh\u00ebm gjenetik patogjen trash\u00ebgohet nga t\u00eb dy prind\u00ebrit). Probabiliteti q\u00eb s\u00ebmundja t\u00eb p\u00ebrs\u00ebritet n\u00eb nj\u00ebr\u00ebn nga shtatz\u00ebnit\u00eb e m\u00ebpasshme n\u00eb nj\u00eb familje ku ka nj\u00eb f\u00ebmij\u00eb me k\u00ebt\u00eb sindrom\u00eb, dhe t\u00eb dy prind\u00ebrit jan\u00eb bart\u00ebs, \u00ebsht\u00eb 1 n\u00eb 4 (ose 25%), dhe probabiliteti q\u00eb s\u00ebmundja t\u00eb mos p\u00ebrs\u00ebritet n\u00eb ndonj\u00eb nga shtatz\u00ebnit\u00eb e m\u00ebpasshme \u00ebsht\u00eb 3 nga 4 (ose 75%).<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Manifestimi klinik:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Imunodefi\u00e7enca &#8211; pavar\u00ebsisht q\u00eb qelizat B jan\u00eb t\u00eb pranishme, pothuajse t\u00eb gjith\u00eb pacient\u00ebt me k\u00ebt\u00eb sindrom\u00eb zhvillojn\u00eb infeksione t\u00eb r\u00ebnda n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme, t\u00eb gjith\u00eb kan\u00eb infeksione t\u00eb r\u00ebnda respiratore dhe rreth gjysma kan\u00eb infeksione gastrointestinale. Forma t\u00eb tjera t\u00eb infeksioneve jan\u00eb perikarditi, infeksionet e veshit, sepsa dhe kandidiaza orale. N\u00eb laborator, imunodefi\u00e7enca manifestohet me nj\u00eb gam\u00eb, nga mungesa e leht\u00eb e imunitetit gjer te agamaglobulinemia, me IgG, IgM dhe IgA t\u00eb ul\u00ebta ose ata mungojn\u00eb krejt\u00ebsisht. Gjysma e pacient\u00ebve kan\u00eb nj\u00eb num\u00ebr t\u00eb ul\u00ebt t\u00eb qelizave T, dhe nj\u00eb num\u00ebr m\u00eb i vog\u00ebl i pacient\u00ebve mund t\u00eb ken\u00eb nj\u00eb num\u00ebr t\u00eb reduktuar t\u00eb qelizave B.<\/p>\n<p class=\"western\" lang=\"mk-MK\">Tiparet specifike t\u00eb fytyr\u00ebs (dismorfia) &#8211; ndryshimet e fytyr\u00ebs te kjo sindrom\u00eb mund t\u00eb jen\u00eb shum\u00eb t\u00eb lehta dhe ndryshojn\u00eb nga pacienti n\u00eb pacient. Shenjat m\u00eb t\u00eb zakonshme jan\u00eb nj\u00eb ur\u00eb e shesht\u00eb e hund\u00ebs, sy t\u00eb gjer\u00eb, nj\u00eb palosje l\u00ebkure n\u00eb qepall\u00ebn e sip\u00ebrme q\u00eb mbulon cepin e brendsh\u00ebm t\u00eb syrit. Vesh\u00eb t\u00eb vegj\u00ebl dhe nj\u00eb gjuh\u00eb e madhe jan\u00eb m\u00eb pak t\u00eb zakonshme.<\/p>\n<p class=\"western\" lang=\"mk-MK\">Paaft\u00ebsia zhvillimore psikomotorike &#8211; rreth 1 nga 5 pacient\u00eb me k\u00ebt\u00eb sindrom\u00eb tregojn\u00eb shenja t\u00eb paaft\u00ebsis\u00eb intelektuale dhe\/ose shenja neurologjike. Zhvillimi psikomotor \u00ebsht\u00eb zakonisht i vonuar, dhe ndonj\u00ebher\u00eb jan\u00eb t\u00eb pranishme ataksia dhe hipotonia muskulore.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Diagnoza:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Diagnoza bazohet n\u00eb dyshimin klinik t\u00eb k\u00ebtij sindromi, q\u00eb sugjeron testimin citogjenetik me nj\u00eb kariotip standard &#8211; gjetja e strukturave kromozomale multiradiale mb\u00ebshtet diagnoz\u00ebn. Zakonisht thyerjet kromozomale jan\u00eb pran\u00eb centromereve t\u00eb kromozomeve 1, 16, dhe m\u00eb rrall\u00eb 9, dhe krah\u00ebt e k\u00ebtyre kromozomeve marrin pjes\u00eb n\u00eb formimin e strukturave multiradiale. Diagnoza p\u00ebrfundimtare e k\u00ebsaj s\u00ebmundjeje b\u00ebhet nga testimi gjenetik molekular (testimi i synuar i nj\u00eb gjeni, testimi i m\u00eb shum\u00eb gjeneve t\u00eb lidhura me imunodefi\u00e7encat, ose testimi m\u00eb i gjer\u00eb i ekzom\u00ebs) dhe gjetja e homozigotit p\u00ebr nj\u00eb variant patogjen n\u00eb nj\u00eb nga gjenet e lidhura ose dy patogjen\u00eb t\u00eb trash\u00ebguar nga t\u00eb dy prind\u00ebrit. Te familjet ku t\u00eb dy prind\u00ebrit jan\u00eb bart\u00ebs t\u00eb varianteve gjenetike patogjene t\u00eb lidhura me k\u00ebt\u00eb sindrom\u00eb, diagnoza prenatale me biopsi korionike ose amniocentez\u00eb \u00ebsht\u00eb e mundur. Vendimi p\u00ebr testimin prenatal merret p\u00ebrmes k\u00ebshillimit gjenetik q\u00eb ndihmon prind\u00ebrit t\u00eb marrin nj\u00eb vendim q\u00eb \u00ebsht\u00eb n\u00eb p\u00ebrputhje me vlerat dhe besimet e tyre.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Trajtimi:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Trajtimi i k\u00ebsaj gjendje pothuajse gjithmon\u00eb p\u00ebrfshin infuzione t\u00eb rregullta t\u00eb imunoglobulinave, gjat\u00eb gjith\u00eb jet\u00ebs. Vitet e fundit jan\u00eb b\u00ebr\u00eb p\u00ebrpjekje p\u00ebr transplant t\u00eb palc\u00ebs kockore.<\/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 imunodefi\u00e7enc\u00ebs, centromer\u00ebs jostabile dhe anomalive t\u00eb fytyr\u00ebs\/ICF syndrome; Immunodeficiency, Centromere Instability and Facial Anomalies ICD &#8211; 10: D [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166461,"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\/2022\/02\/21-ICF-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/21-ICF-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"168","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 ICF - \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-icf\/\" \/>\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 ICF - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma e imunodefi\u00e7enc\u00ebs, centromer\u00ebs jostabile dhe anomalive t\u00eb fytyr\u00ebs\/ICF syndrome; 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