{"id":166537,"date":"2022-02-22T09:13:17","date_gmt":"2022-02-22T08:13:17","guid":{"rendered":"https:\/\/sdk.mk\/?p=166537"},"modified":"2022-02-22T09:13:17","modified_gmt":"2022-02-22T08:13:17","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-e-cri-du-chat","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-e-cri-du-chat\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA E CRI-DU-CHAT"},"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 lang=\"mk-MK\"><em><strong>Sindroma e Cri-du-chat\/Cri du chat syndrome<\/strong><\/em><\/p>\n<p lang=\"mk-MK\">ICD &#8211; 10: Q 93.4<\/p>\n<p lang=\"mk-MK\">Prevalenca: 1\/15.000 &#8211; 50.000 lindje<\/p>\n<p>Sindroma e t\u00eb qar\u00ebs s\u00eb maces, i p\u00ebrket grupit t\u00eb s\u00ebmundjeve gjenetike q\u00eb shfaqen si rezultat i delecionit ose munges\u00ebs s\u00eb materialit kromozomik (fshirja mbulon nj\u00eb rajon n\u00eb krahun e shkurt\u00ebr t\u00eb kromozomit t\u00eb pest\u00eb). Manifestimi i k\u00ebsaj s\u00ebmundjeje \u00ebsht\u00eb shum\u00eb i ndryshuesh\u00ebm dhe ndryshon nga pacienti n\u00eb pacient, k\u00ebshtu q\u00eb kjo ndryshueshm\u00ebri varet nga madh\u00ebsia e segmentit q\u00eb mungon n\u00eb kromozomin e pest\u00eb. Simptomat ndryshojn\u00eb n\u00eb m\u00ebnyr\u00eb t\u00eb konsiderueshme.<\/p>\n<p>Simptomat e zakonshme p\u00ebrfshijn\u00eb t\u00eb qar\u00eb q\u00eb ngjan me at\u00eb t\u00eb maces, ngecje n\u00eb rritje, zhvillim dhe t\u00eb folur, hipotoni, tipare karakteristike t\u00eb fytyr\u00ebs, kok\u00eb t\u00eb vog\u00ebl dhe probleme n\u00eb sjellje. F\u00ebmij\u00ebt zakonisht kan\u00eb aft\u00ebsi t\u00eb kufizuara n\u00eb zhvillimin global, ve\u00e7an\u00ebrisht n\u00eb zhvillimin e aft\u00ebsive q\u00eb k\u00ebrkojn\u00eb koordinim midis aktivitetit muskulor dhe mendor, dhe paaft\u00ebsi intelektuale t\u00eb moderuar deri t\u00eb r\u00ebnd\u00eb. Shumica e rasteve ndodhin p\u00ebr shkak t\u00eb nj\u00eb ndryshimi t\u00eb ri gjenetik n\u00eb zhvillimin e hersh\u00ebm t\u00eb embrionit, dhe ashp\u00ebrsia e manifestimit klinik varet nga madh\u00ebsia e delecionit.<\/p>\n<p>Ky sindrom u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb nga citogjenetisti francez Lejeune n\u00eb vitin 1963 me emrin Cri du Chat (Kri Dy Sha), q\u00eb do t\u00eb thot\u00eb &#8220;e qar\u00eb maceje&#8221; n\u00eb fr\u00ebngjisht.<\/p>\n<p><strong>Shkaqet:<\/strong><\/p>\n<p>\u041ay kondicion gjenetik \u00ebsht\u00eb nj\u00eb s\u00ebmundje kromozomale e shkaktuar nga nj\u00eb humbje e pjesshme e krahut t\u00eb shkurt\u00ebr t\u00eb kromozomit t\u00eb pest\u00eb, ose m\u00eb konkretisht rajonit 5p15.3. Studimet shkencore kan\u00eb lidhur shum\u00eb nga simptomat e k\u00ebsaj gjendje me disa gjene t\u00eb vendosura n\u00eb k\u00ebt\u00eb rajon t\u00eb kromozomit 5, t\u00eb tilla si transkriptaza reverze e telomeraz\u00ebs dhe semaforina F. Delecioni i gjenit delta katenin shoq\u00ebrohet me paaft\u00ebsi intelektuale e cila \u00ebsht\u00eb pjes\u00eb e manifestimit klinik t\u00eb k\u00ebsaj sindrome.<\/p>\n<p>Edhe pse s\u00ebmundja \u00ebsht\u00eb gjenetike, n\u00eb shumic\u00ebn e rasteve ajo nuk \u00ebsht\u00eb e trash\u00ebguar &#8211; shumica e delecioneve t\u00eb gjetura n\u00eb k\u00ebt\u00eb sindrom\u00eb jan\u00eb rezultat i nj\u00eb ndryshimi t\u00eb ri, spontan gjenetik dhe vijn\u00eb nga babai &#8211; babai nuk \u00ebsht\u00eb bart\u00ebs i delecionit dhe \u00ebsht\u00eb i sh\u00ebndetsh\u00ebm, por ndryshimi gjenetik ndodh n\u00eb qelizat riprodhuese mashkullore (spermatozoidet). Prind\u00ebrit e f\u00ebmij\u00ebve me k\u00ebt\u00eb sindrom\u00eb kan\u00eb kromozome normale, dhe mund\u00ebsia q\u00eb s\u00ebmundja t\u00eb p\u00ebrs\u00ebritet n\u00eb nj\u00ebr\u00ebn nga shtatz\u00ebnit\u00eb e m\u00ebpasshme \u00ebsht\u00eb shum\u00eb e ul\u00ebt.<\/p>\n<p>N\u00eb 10 deri n\u00eb 15% t\u00eb rasteve, s\u00ebmundja shfaqet p\u00ebr shkak t\u00eb nj\u00eb translokacioni kromozomal i pabalancuar (zhvendosja \u00ebsht\u00eb nj\u00eb gjendje n\u00eb t\u00eb cil\u00ebn dy kromozome shk\u00ebmbejn\u00eb nj\u00eb pjes\u00eb t\u00eb materialit t\u00eb tyre gjenetik me nj\u00ebri -tjetrin), i cili p\u00ebrfshin rajonin specifik t\u00eb krahut e shkurt\u00eb t\u00eb kromozomit t\u00eb pest\u00eb. Arsyeja m\u00eb e zakonshme p\u00ebr k\u00ebt\u00eb \u00ebsht\u00eb prezenca e nj\u00eb translokacioni t\u00eb balancuar te nj\u00ebri nga prind\u00ebrit, e cila transmetohet n\u00eb m\u00ebnyr\u00eb t\u00eb pabalancuar tek f\u00ebmija. Kjo mund t\u00eb konfirmohet duke kontrolluar kariotipin (kromozomet) e t\u00eb dy prind\u00ebrve. N\u00eb format translokative t\u00eb sindrom\u00ebs, ekziston nj\u00eb mund\u00ebsi e konsiderueshme q\u00eb s\u00ebmundja t\u00eb p\u00ebrs\u00ebritet n\u00eb shtatz\u00ebnin\u00eb e ardhshme. Gjat\u00eb shtatz\u00ebnis\u00eb s\u00eb ardhshme, metodat diagnostikuese prenatale jan\u00eb n\u00eb dispozicion t\u00eb \u00e7iftit p\u00ebr t\u00eb p\u00ebrcaktuar n\u00ebse fetusi ka nj\u00eb kariotip t\u00eb balancuar apo jo.<\/p>\n<p lang=\"mk-MK\"><strong>Simptomat:<\/strong><\/p>\n<p lang=\"mk-MK\">Disa persona kan\u00eb nj\u00eb prezantim klinik t\u00eb s\u00ebmundjes m\u00eb t\u00eb r\u00ebnd\u00eb dhe t\u00eb tjer\u00ebt m\u00eb t\u00eb but\u00eb. Format m\u00eb t\u00eb r\u00ebnda shoq\u00ebrohen me humbje m\u00eb t\u00eb madhe t\u00eb materialit kromozomik nga kromozomi 5.<\/p>\n<p>Lista e simptomave p\u00ebrfshin t\u00eb qar\u00ebn si e maces, e cila humbet te nj\u00eb e treta e f\u00ebmij\u00ebve gjer n\u00eb mosh\u00ebn 2 vje\u00e7. Simptomat t\u00eb tjera t\u00eb k\u00ebsaj sindrome jan\u00eb: probleme me ushqyerjen p\u00ebr shkak t\u00eb v\u00ebshtir\u00ebsis\u00eb n\u00eb g\u00eblltitje dhe thithje; pesh\u00eb e ul\u00ebt n\u00eb lindje dhe ngecje n\u00eb rritje; d\u00ebmtime t\u00eb r\u00ebnda kognitive, motorike dhe t\u00eb t\u00eb folurit; probleme t\u00eb sjelljes, t\u00eb tilla si hiperaktiviteti, agresioni, shp\u00ebrthimet dhe l\u00ebvizjet e p\u00ebrs\u00ebritura; tipare t\u00eb pazakonta t\u00eb fytyr\u00ebs, t\u00eb cilat mund t\u00eb ndryshojn\u00eb me kalimin e koh\u00ebs; tajitje e tep\u00ebrt e p\u00ebshtym\u00ebs; \u00a0kok\u00eb e vog\u00ebl (mikrocefali) dhe nofull (mikrognatiz\u00ebm); sy t\u00eb larguara (hiperteloriz\u00ebm); njolla n\u00eb l\u00ebkur\u00ebn n\u00ebn sy.<\/p>\n<p>Karakteristika t\u00eb tjera t\u00eb zakonshme p\u00ebrfshijn\u00eb hipotoni, fytyr\u00eb t\u00eb rrumbullak\u00ebt me faqe t\u00eb plota, qepalla t\u00eb pjerr\u00ebta, strabiz\u00ebm, hund\u00eb t\u00eb shesht\u00eb dhe t\u00eb gjer\u00eb, vesh\u00eb t\u00eb ul\u00ebt, gishta t\u00eb shkurt\u00ebr dhe d\u00ebmtim t\u00eb zemr\u00ebs.<\/p>\n<p><strong>Diagnoza:<\/strong><\/p>\n<p>Diagnoza bazohet n\u00eb dyshimin klinik t\u00eb k\u00ebtij sindromi t\u00eb delecionit, pastaj sugjerohet testim molekular citogjenetik me mikroarray kromozomal, MLPA, hibridizim fluoreshent in situ, ose nj\u00eb metod\u00eb t\u00eb ngjashme. Diagnoza mund t\u00eb p\u00ebrcaktohet te nj\u00eb pacient me simptomatologji t\u00eb caktuar, gjithashtu \u00ebsht\u00eb e mundur edhe nj\u00eb diagnoz\u00eb prenatale me biopsi korionike ose amniocentez\u00eb. Testimi para lindjes dhe ai pas lindjes kryhen n\u00eb kuadrin e k\u00ebshillimit gjenetik.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Nuk ka terapi specifike p\u00ebr k\u00ebt\u00eb s\u00ebmundje, dhe trajtimi synon manifestimet dhe simptomat specifike t\u00eb s\u00ebmundjes. Trajtimi i k\u00ebsaj gjendje \u00ebsht\u00eb multidisiplinar, ekipi mund t\u00eb p\u00ebrfshij\u00eb nj\u00eb pediat\u00ebr, kardiolog, neurolog, logoped, fizioterapist dhe terapist profesional. N\u00ebse ka defekte t\u00eb lindura t\u00eb zemr\u00ebs, at\u00ebher\u00eb ato trajtohen n\u00eb m\u00ebnyr\u00eb \u00a0kirurgjikale.<\/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 Cri-du-chat\/Cri du chat syndrome ICD &#8211; 10: Q 93.4 Prevalenca: 1\/15.000 &#8211; 50.000 lindje Sindroma e t\u00eb qar\u00ebs [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166538,"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\/22-Cri-du-chat-syndrome-2-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/22-Cri-du-chat-syndrome-2-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"880","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 CRI-DU-CHAT - \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-cri-du-chat\/\" \/>\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 CRI-DU-CHAT - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma e Cri-du-chat\/Cri du chat syndrome ICD &#8211; 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