{"id":166395,"date":"2022-02-20T08:25:42","date_gmt":"2022-02-20T07:25:42","guid":{"rendered":"https:\/\/sdk.mk\/?p=166395"},"modified":"2022-02-20T08:25:42","modified_gmt":"2022-02-20T07:25:42","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-rett","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-rett\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA RETT"},"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\"><em><strong><span lang=\"en-US\">Sindroma Rett\/Rett syndrome<\/span><\/strong><\/em><\/p>\n<p class=\"western\"><span lang=\"en-US\">ICD &#8211; 10: F 84.2<\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Prevalenca: 1-9\/100.000<\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Sindroma Rett \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike q\u00eb zakonisht manifestohet n\u00eb mosh\u00ebn 6-18 muajsh tek vajzat me t\u00eb folur dhe koordinim motorik t\u00eb d\u00ebmtuar dhe l\u00ebvizje t\u00eb p\u00ebrs\u00ebritura. Gjendja e pacient\u00ebve \u00ebsht\u00eb shum\u00eb e ndryshueshme dhe p\u00ebrfshin rritje t\u00eb ngadalt\u00eb, v\u00ebshtir\u00ebsi n\u00eb ecje, kok\u00eb t\u00eb vog\u00ebl, epilepsi, skolioz\u00eb dhe \u00e7rregullim t\u00eb gjumit. S\u00ebmundja \u00ebsht\u00eb jasht\u00ebzakonisht e rrall\u00eb tek meshkujt. Neuropsikiatri suedez Bengt Hagberg i v\u00ebrejti p\u00ebr her\u00eb t\u00eb par\u00eb disa raste t\u00eb s\u00ebmundjes gjat\u00eb viteve 1960. N\u00eb vitin 1966, Prof. Dr. Andreas Rett nga Vjena publikoi raportin e par\u00eb t\u00eb k\u00ebtij sindromi n\u00eb 31 vajza. Nd\u00ebrkoh\u00eb, nj\u00eb studim i ngjash\u00ebm nga nj\u00eb grup shkenc\u00ebtar\u00ebsh japonez\u00eb \u00ebsht\u00eb botuar n\u00eb m\u00ebnyr\u00eb t\u00eb pavarur. N\u00eb nj\u00eb takim t\u00eb Federat\u00ebs Evropiane t\u00eb Shoqat\u00ebs s\u00eb Neurologjis\u00eb s\u00eb F\u00ebmij\u00ebve n\u00eb 1980, Hagberg paraqiti 16 raste t\u00eb s\u00ebmundjes, dhe me at\u00eb rast, Karin Dias nga Lisbona dhe Jean Aicardi nga Parisi paraqit\u00ebn raportet e tyre. Tre vjet m\u00eb von\u00eb, ky grup autor\u00ebsh publikoi nj\u00eb raport t\u00eb p\u00ebrbashk\u00ebt mbi 35 vajza me k\u00ebt\u00eb \u00e7rregullim (nga Suedia, Portugalia dhe Holanda), dhe p\u00ebr her\u00eb t\u00eb par\u00eb e quajt\u00ebn at\u00eb sindroma Rett. <\/span><\/p>\n<p class=\"western\"><strong><span lang=\"en-US\">Pasqyra klinike:<\/span><\/strong><\/p>\n<p class=\"western\"><span lang=\"en-US\">Vajzat me sindrom\u00ebn Rett &#8211; spektri i shfaqjes s\u00eb sindrom\u00ebs Rett tek femrat mbulon nj\u00eb gam\u00eb nga forma klasike gjer te forma variante me nj\u00eb manifestim m\u00eb t\u00eb gjer\u00eb klinik (nga forma e but\u00eb n\u00eb at\u00eb t\u00eb r\u00ebnd\u00eb). <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Forma klasike \u00ebsht\u00eb nj\u00eb s\u00ebmundje neuro-zhvillimore tek vajzat, e cila karakterizohet me 4 faza: <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Faza 1: Zhvillim normal psikomotorik n\u00eb 6 deri n\u00eb 18 muajt e par\u00eb t\u00eb jet\u00ebs. Kjo pasohet nga nj\u00eb ngadal\u00ebsim i zhvillimit psikomotor, i cili n\u00eb fillim mund t\u00eb jet\u00eb shum\u00eb diskret dhe pa u v\u00ebn\u00eb re nga prind\u00ebrit dhe mjek\u00ebt. F\u00ebmija mund t\u00eb tregoj\u00eb m\u00eb pak interes p\u00ebr lodrat dhe shmang shikimin n\u00eb sy. Ngadal\u00ebsimi i zhvillimit motorik, si\u00e7 \u00ebsht\u00eb v\u00ebshtir\u00ebsia p\u00ebr t&#8217;u ulur ose zvarritur, gjithashtu mund t\u00eb shfaqet gjat\u00eb k\u00ebsaj periudhe. Kjo faz\u00eb zakonisht zgjat disa muaj, deri n\u00eb nj\u00eb vit. <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Faza 2: Kjo faz\u00eb zakonisht ndodh midis mosh\u00ebs 1 dhe 4 vje\u00e7 dhe mund t\u00eb zgjas\u00eb nga disa jav\u00eb deri n\u00eb disa muaj. Ajo manifestohet me regresion t\u00eb shpejt\u00eb t\u00eb funksioneve gjuh\u00ebsore dhe motorike, e ndjekur nga nj\u00eb periudh\u00eb e stabilizimit afatgjat\u00eb t\u00eb gjendjes. N\u00eb periudh\u00ebn e regresionit t\u00eb shpejt\u00eb, jan\u00eb t\u00eb pranishme l\u00ebvizjet e p\u00ebrs\u00ebritura dhe stereotipike t\u00eb duarve (p\u00ebr shembull: p\u00ebrplasja e duarve, sjellja e p\u00ebll\u00ebmb\u00ebve n\u00eb goj\u00eb) t\u00eb cilat z\u00ebvend\u00ebsojn\u00eb l\u00ebvizjet e synuara t\u00eb duarve q\u00eb kan\u00eb nj\u00eb q\u00ebllim specifik. K\u00ebto l\u00ebvizje jan\u00eb t\u00eb pranishme kur f\u00ebmija \u00ebsht\u00eb zgjuar dhe humbin gjat\u00eb gjumit. Shenjat klinike shtes\u00eb p\u00ebrfshijn\u00eb ul\u00ebrima t\u00eb forta, t\u00eb qara, simptoma autike, sulme paniku, k\u00ebrc\u00ebllim dh\u00ebmb\u00ebsh, gul\u00e7im t\u00eb rastit ose frym\u00ebmarrje t\u00eb shpejt\u00eb, v\u00ebshtir\u00ebsi n\u00eb ecje, paaft\u00ebsi p\u00ebr t\u00eb l\u00ebvizur, shtr\u00ebngim duarsh, sulme epileptike dhe rritje t\u00eb ngadalt\u00eb t\u00eb kok\u00ebs. <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Faza 3: P\u00ebrfaq\u00ebson nj\u00eb pllaj\u00eb ose faz\u00eb pseudo-statike q\u00eb zakonisht fillon midis 2 dhe 10 vjet, dhe mund t\u00eb zgjas\u00eb p\u00ebr shum\u00eb vite. Gjat\u00eb k\u00ebsaj faze, karakteristike jan\u00eb apraksia (v\u00ebshtir\u00ebsi n\u00eb planifikimin dhe kryerjen e funksioneve motorike) dhe sulmet epileptike. N\u00eb k\u00ebt\u00eb faz\u00eb mund t\u00eb ket\u00eb nj\u00eb p\u00ebrmir\u00ebsim t\u00eb sjelljes, me m\u00eb pak nervoziz\u00ebm, t\u00eb qar\u00eb dhe simptoma autike, dhe mund t\u00eb ket\u00eb nj\u00eb p\u00ebrmir\u00ebsim t\u00eb v\u00ebmendjes dhe interesit p\u00ebr mjedisin. Shum\u00eb vajza me sindrom\u00ebn Rett mbeten n\u00eb k\u00ebt\u00eb faz\u00eb p\u00ebr pjes\u00ebn tjet\u00ebr t\u00eb jet\u00ebs s\u00eb tyre. <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Faza 4: Kjo \u00ebsht\u00eb nj\u00eb faz\u00eb e d\u00ebshtimit t\u00eb von\u00eb motorik dhe mund t\u00eb zgjas\u00eb nga disa vjet n\u00eb disa dekada. Karakterizohet me probleme motorike, l\u00ebvizshm\u00ebri e zvog\u00ebluar, skolioz\u00eb, dob\u00ebsi e muskujve, spasticitet dhe rritje e tonit t\u00eb muskujve. N\u00ebse pacienti ka l\u00ebvizur m\u00eb par\u00eb pa v\u00ebshtir\u00ebsi, aft\u00ebsia p\u00ebr t\u00eb ecur mund t\u00eb humbet, nd\u00ebrsa funksioni kognitiv, aft\u00ebsit\u00eb e komunikimit dhe aft\u00ebsit\u00eb motorike t\u00eb p\u00ebll\u00ebmb\u00ebs zakonisht nuk ndryshojn\u00eb n\u00eb k\u00ebt\u00eb faz\u00eb. L\u00ebvizjet e p\u00ebrs\u00ebritura mund t\u00eb zvog\u00eblohen. <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">Djemt\u00eb me sindrom\u00ebn Rett &#8211; pasqyra klinike e rasteve t\u00eb rralla mashkullore t\u00eb sindrom\u00ebs Rett p\u00ebrfshin encefalopati q\u00eb fillon n\u00eb periudh\u00ebn neonatale &#8211; kjo \u00ebsht\u00eb forma m\u00eb e zakonshme e s\u00ebmundjes tek djemt\u00eb. S\u00ebmundja p\u00ebrparon me shpejt\u00ebsi, me ndryshime n\u00eb tonin e muskujve, l\u00ebvizje t\u00eb pavullnetshme, epilepsi t\u00eb r\u00ebnd\u00eb dhe \u00e7rregullime t\u00eb frym\u00ebmarrjes. Fundi fatal \u00ebsht\u00eb shum\u00eb i zakonsh\u00ebm n\u00eb vitin e dyt\u00eb t\u00eb jet\u00ebs. <\/span><\/p>\n<p class=\"western\"><strong><span lang=\"en-US\">Shkaqet, trash\u00ebgimia dhe k\u00ebshillimi gjenetik: <\/span><\/strong><\/p>\n<p class=\"western\"><span lang=\"en-US\">Kjo s\u00ebmundje gjenetike ndodh p\u00ebr shkak t\u00eb varianteve gjenetike patogjene q\u00eb z\u00ebn\u00eb gjenin MECP2, d.m.th. n\u00eb 90-95% t\u00eb rasteve b\u00ebhet fjal\u00eb p\u00ebr ndryshime n\u00eb sekuenc\u00eb, dhe n\u00eb 5-10% ekzistojn\u00eb ndryshime n\u00eb numrin e kopjeve t\u00eb k\u00ebtij gjeni (fshirje ose dyfishim). Gjeni MECP2 ndodhet n\u00eb kromozomin X dhe trash\u00ebgohet si nj\u00eb s\u00ebmundje e lidhur me X kromozomin. Heterozigot\u00ebt femra shfaqin s\u00ebmundjen nd\u00ebrsa heterozigot\u00ebt meshkuj vdesin ose gjat\u00eb zhvillimit intrauterin ose n\u00eb vitet e para t\u00eb jet\u00ebs. Shumica e rasteve jan\u00eb p\u00ebr shkak t\u00eb ndryshimeve t\u00eb reja gjenetike, ku ndryshimi i par\u00eb tek pacienti nuk zbulohet n\u00eb ADN -n\u00eb e t\u00eb dy prind\u00ebrve.<\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">N\u00ebse pacienti \u00ebsht\u00eb fem\u00ebr, rekomandohet testimi i t\u00eb dy prind\u00ebrve, dhe n\u00ebse \u00ebsht\u00eb mashkull, vet\u00ebm n\u00ebn\u00ebs. N\u00ebse ndryshimi gjenetik nuk \u00ebsht\u00eb i pranish\u00ebm tek prind\u00ebrit, ndryshimi mund t\u00eb jet\u00eb i ri ose ekziston mozaikiz\u00ebm gonadal (ndryshimi gjenetik i cili \u00ebsht\u00eb i pranish\u00ebm vet\u00ebm n\u00eb qelizat e testiseve ose vezoreve). Probabiliteti i p\u00ebrs\u00ebritjes s\u00eb gjendjes n\u00eb shtatz\u00ebnin\u00eb tjet\u00ebr kur ndryshimi gjenetik nuk \u00ebsht\u00eb i pranish\u00ebm n\u00eb ADN-n\u00eb e prind\u00ebrve \u00ebsht\u00eb n\u00ebn 1%, por p\u00ebr shkak t\u00eb mund\u00ebsis\u00eb s\u00eb mozaikizmit gonadal.<\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">N\u00ebse prind\u00ebrit duan t\u00eb jen\u00eb t\u00eb sigurt, at\u00ebher\u00eb rekomandohet nj\u00eb diagnoz\u00eb prenatale. Rrall\u00eb, n\u00ebna mund t\u00eb jet\u00eb nj\u00eb bart\u00ebse jo e dukshme ose e but\u00eb e ndryshimit gjenetik p\u00ebr shkak t\u00eb inaktivizimit t\u00eb favorsh\u00ebm t\u00eb kromozomit X. N\u00eb k\u00ebto raste, probabiliteti i p\u00ebrs\u00ebritjes s\u00eb s\u00ebmundjes \u00ebsht\u00eb 50% n\u00eb shtatz\u00ebnit\u00eb pasuese. <\/span><\/p>\n<p class=\"western\"><span lang=\"en-US\">N\u00eb familjet q\u00eb kan\u00eb nj\u00eb f\u00ebmij\u00eb me sindrom\u00ebn Rett ku f\u00ebmija ka nj\u00eb diagnoz\u00eb t\u00eb konfirmuar gjenetike, p\u00ebr shtatz\u00ebnit\u00eb pasuese rekomandohet nj\u00eb diagnoz\u00eb prenatale. Testimi para lindjes kryhet i shoq\u00ebruar me k\u00ebshillim gjenetik.<\/span><\/p>\n<p class=\"western\"><strong><span lang=\"en-US\">Diagnoza:<\/span><\/strong><\/p>\n<p class=\"western\"><span lang=\"en-US\">Diagnoza bazohet n\u00eb pasqyr\u00ebn klinike. Simptomat q\u00eb sygjerojn\u00eb sindrom\u00ebn Rett jan\u00eb: <\/span><\/p>\n<ul>\n<li class=\"western\"><span lang=\"en-US\">simptoma m\u00eb specifike \u00ebsht\u00eb periudha e regresionit n\u00eb mosh\u00ebn 1 deri n\u00eb 4 vje\u00e7, e ndjekur nga faza e p\u00ebrmir\u00ebsimit ose stabilizimit n\u00eb mosh\u00ebn 2 deri n\u00eb 10 vje\u00e7;<\/span><\/li>\n<li class=\"western\"><span lang=\"en-US\">shenjat kryesore q\u00eb sygjerojn\u00eb k\u00ebt\u00eb gjendje jan\u00eb humbja e pjesshme ose e plot\u00eb e aft\u00ebsive t\u00eb fituara motorike t\u00eb duarve, si dhe t\u00eb folurit e fituar, paq\u00ebndrueshm\u00ebria n\u00eb ecje deri n\u00eb humbjen e aft\u00ebsis\u00eb p\u00ebr t\u00eb ecur dhe l\u00ebvizjet stereotipike t\u00eb duarve;<\/span><\/li>\n<li class=\"western\"><span lang=\"en-US\">simptoma shtes\u00eb t\u00eb k\u00ebsaj gjendje p\u00ebrfshijn\u00eb v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje, k\u00ebrc\u00ebllim dh\u00ebmb\u00ebsh, \u00e7rregullim i ritmit t\u00eb gjumit, ndryshime n\u00eb tonin e muskujve, skolioz\u00eb ose kifoz\u00eb, rritje t\u00eb ngadalt\u00eb, p\u00ebll\u00ebmb\u00eb dhe shputa t\u00eb vogla dhe t\u00eb ftohta, t\u00eb qeshura joadekuate dhe ndjesi e zvog\u00ebluar ndaj dhimbjes;<\/span><\/li>\n<li class=\"western\"><span lang=\"en-US\">simptomat q\u00eb p\u00ebrjashtojn\u00eb s\u00ebmundjen jan\u00eb d\u00ebmtimet e njohura t\u00eb trurit, infeksionet serioze t\u00eb trurit, s\u00ebmundjet neurometabolike dhe zhvillimi duksh\u00ebm i vonuar psikomotorik n\u00eb 6 muajt e par\u00eb t\u00eb jet\u00ebs.<\/span><\/li>\n<\/ul>\n<p class=\"western\"><strong><span lang=\"en-US\">Trajtimi:<\/span><\/strong><\/p>\n<p class=\"western\"><span lang=\"en-US\">Trajtimi i manifestimeve t\u00eb k\u00ebsaj gjendje p\u00ebrfshin optimizimin e aft\u00ebsive t\u00eb pacientit duke p\u00ebrfshir\u00eb nj\u00eb qasje multidisiplinare q\u00eb duhet t\u00eb p\u00ebrfshij\u00eb mb\u00ebshtetjen psikosociale p\u00ebr an\u00ebtar\u00ebt e familjes. Risperidoni mund t\u00eb ndihmoj\u00eb n\u00eb trajtimin e agjitacionit, dhe melatonina mund t\u00eb p\u00ebrmir\u00ebsoj\u00eb gjumin. Kujdesi p\u00ebrfshin trajtimin e epilepsis\u00eb, kapsll\u00ebkut, skolioz\u00ebs, intervalit t\u00eb zgjatur t\u00eb QT dhe spasticitetit. Monitorimi i gjendjes p\u00ebrfshin vler\u00ebsimin periodik nga ekipi multidisiplinar, vler\u00ebsimin e rregullt t\u00eb intervalit QT dhe skolioz\u00ebs. Pacient\u00ebt me sindrom\u00ebn Rett duhet t\u00eb shmangin ila\u00e7et q\u00eb zgjasin intervalin QT.<\/span><\/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 Rett\/Rett syndrome ICD &#8211; 10: F 84.2 Prevalenca: 1-9\/100.000 Sindroma Rett \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike q\u00eb zakonisht [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166396,"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\/20-Rett-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/20-Rett-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"1094","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 RETT - \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-rett\/\" \/>\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 RETT - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma Rett\/Rett syndrome ICD &#8211; 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