{"id":188685,"date":"2023-02-14T08:28:35","date_gmt":"2023-02-14T07:28:35","guid":{"rendered":"https:\/\/sdk.mk\/?p=188685"},"modified":"2023-02-14T08:28:54","modified_gmt":"2023-02-14T07:28:54","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-phelan-mcdermid","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-phelan-mcdermid\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA PHELAN-MCDERMID"},"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=-wo0eC3u5pU&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=14\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Sindroma Phelan-McDermid<\/strong><\/em><\/a><\/p>\n<p>ICD Q93.5<\/p>\n<p>Prevalenca: 1\/8.000 &#8211; 15.000<\/p>\n<p><strong>Shkaqet:<\/strong><\/p>\n<p>Sindroma Phelan-McDermid \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike e shkaktuar nga nj\u00eb fshirje ose ndryshim tjet\u00ebr strukturor n\u00eb pjes\u00ebn terminale t\u00eb krahut t\u00eb gjat\u00eb t\u00eb kromozomit 22, n\u00eb rajonin 22q13, i cili shkakton nj\u00eb variant patogjen t\u00eb gjenit SHANK3. Kjo s\u00ebmundje u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb literatur\u00ebn mjek\u00ebsore n\u00eb vitin 1985 dhe n\u00eb vitin 2002, nj\u00eb grup prind\u00ebrish sugjeruan q\u00eb emri zyrtar i sindrom\u00ebs t\u00eb ishte Sindroma Phelan-McDermid, pas Dr. Katie Phelan dhe studiueses Heather McDermid nga Universiteti i Albert\u00ebs. Mutacioni mund t\u00eb trash\u00ebgohet nga prindi ose \u00ebsht\u00eb i vet\u00ebkrijuar , kurse shenjat dhe simptomat e sindrom\u00ebs jan\u00eb t\u00eb ndryshueshme dhe varen nga ajo se cila pjes\u00eb e kromozomit q\u00eb \u00ebsht\u00eb fshir\u00eb, nga madh\u00ebsia e tij dhe nga varianti patogjen i gjenit SHANK3. Forma m\u00eb e zakonshme e FMD \u00ebsht\u00eb nj\u00eb fshirje e thjesht\u00eb e pjes\u00ebs distale t\u00eb krahut t\u00eb gjat\u00eb q t\u00eb kromozomit 22 dhe ndodh &#8220;de novo&#8221; dhe n\u00eb m\u00ebnyr\u00eb sporadike, dometh\u00ebn\u00eb, shkaku i sakt\u00eb i mutacionit \u00ebsht\u00eb i panjohur. Mund t\u00eb ndodh\u00eb gjithashtu n\u00eb vez\u00eb ose n\u00eb spermatozoidet q\u00eb p\u00ebrb\u00ebjn\u00eb embrionin. Megjithat\u00eb, ka m\u00eb shum\u00eb gjasa t\u00eb ket\u00eb origjin\u00ebn n\u00eb sperm\u00eb, gj\u00eb q\u00eb \u00ebsht\u00eb rasti me mutacione t\u00eb tjera q\u00eb p\u00ebrfshijn\u00eb pjes\u00ebn distale t\u00eb kromozomit.<br \/>\nShenjat, simptomat dhe pasojat:<\/p>\n<p>Shumica e t\u00eb porsalindurve kan\u00eb zhvillim normal para dhe pas lindjes. Shenjat e para fillojn\u00eb n\u00eb periudh\u00ebn neonatale me shfaqjen e hipotensionit t\u00eb shoq\u00ebruar me v\u00ebshtir\u00ebsi n\u00eb t\u00eb ngr\u00ebn\u00eb, t\u00eb qara t\u00eb dob\u00ebta dhe q\u00ebndrim t\u00eb dob\u00ebsuar. \u00cbsht\u00eb regjistruar m\u00eb tej vonesa t\u00eb konsiderueshme zhvillimore (rrokullisje, ulur, zvarritje, ecje) dhe m\u00eb pas prind\u00ebrit shpesh k\u00ebrkojn\u00eb ndihm\u00eb mjek\u00ebsore. Nd\u00ebrsa f\u00ebmija rritet, gjendja p\u00ebrkeq\u00ebsohet duke p\u00ebrfshir\u00eb aft\u00ebsin\u00eb e kufizuar intelektuale, munges\u00ebn ose t\u00eb folurit e dob\u00ebt, autizmin, probleme me gjumin, ngr\u00ebnien, g\u00eblltitjen, nuk ndjejn\u00eb dhimbje, gj\u00eb q\u00eb \u00ebsht\u00eb nj\u00eb problem serioz, mos djersitja e cila mund t\u00eb coj\u00eb deri n\u00eb mbinxehje e trupit dhe n\u00eb 40% shfaqet epilepsia e cila mund t\u00eb jet\u00eb e leht\u00eb dhe shum\u00eb m\u00eb e r\u00ebnd\u00eb. Dallohen tiparet e fytyr\u00ebs t\u00eb shoq\u00ebruara me sindrom\u00ebn: kok\u00eb e zgjatur, vesh\u00eb t\u00eb m\u00ebdhenj, vetulla t\u00eb shkrira, syt\u00eb t\u00eb vendosur thell\u00eb, qerpik\u00ebt e gjat\u00eb, qepallat e fryr\u00eb dhe t\u00eb r\u00ebn\u00eb, pjesa e mesme e rrafshuar e fytyr\u00ebs, faqet e plota , ura e gjer\u00eb e hund\u00ebs. Thonjt\u00eb e pazhvilluar me duar relativisht t\u00eb gjata jan\u00eb t\u00eb mundshme. Rreth 40% e pacient\u00ebve me FDA kan\u00eb anomali t\u00eb veshkave: s\u00ebmundja e veshkave policistike, veshka jofunksionale e pazhvilluar dhe displazike, hidronefroz\u00eb dhe refluks vezikouretrale, prandaj rekomandohet monitorimi i rregullt i ekos. Problemet gastrointestinale ndodhin n\u00eb nj\u00eb p\u00ebrqindje t\u00eb caktuar t\u00eb FDA pacient\u00ebt p\u00ebrfshijn\u00eb refluksin gastroezofageal (35%) dhe t\u00eb vjellat me nd\u00ebrprerje (25%), m\u00ebl\u00e7is\u00eb yndyrore, kapsll\u00ebk, diarre. N\u00eb k\u00ebto kushte, theks i ve\u00e7ant\u00eb i kushtohet rrezikut nga dehidrimi. 15% kan\u00eb cista arahnoidale t\u00eb cilat n\u00ebse rriten mund t\u00eb rrisin presionin intrakranial t\u00eb manifestuar me nervoziz\u00ebm, konvulsione me t\u00eb qara, dhimbje koke, t\u00eb vjella dhe kriza. K\u00ebrkohen ekzaminime t\u00eb m\u00ebtejshme me MRI, KTM.<br \/>\nLimfedema dhe celuliti (inflamacion i yndyr\u00ebs n\u00ebnl\u00ebkurore) mund t\u00eb zhvillohen n\u00eb adoleshenc\u00eb ose n\u00eb rinin\u00eb e hershme. Problemet neuropsikiatrike p\u00ebrfshijn\u00eb: \u00e7rregullimin bipolar, ankth, depresion, katatonin\u00eb, psikoz\u00ebn, humbjen e p\u00ebrkohshme t\u00eb zakoneve, regresionin afatgjat\u00eb dhe m\u00eb s\u00eb shpeshti k\u00ebto probleme shfaqen n\u00eb rinin\u00eb e hershme.<\/p>\n<p><strong>Mjekimi:<\/strong><\/p>\n<p>Trajtimi i k\u00ebsaj s\u00ebmundje gjenetike \u00ebsht\u00eb simptomatik dhe zakonisht mbulon disa specialitete dhe varet nga simptomat q\u00eb trajtohen, dhe p\u00ebrfshin: pediat\u00ebr, neurolog\u00eb, nefrolog\u00eb, gastroenterohepatolog\u00eb, imunolog\u00eb, ortoped\u00eb, edukator\u00eb special\u00eb, logoped\u00eb, fiziat\u00ebr. Problemet e zemr\u00ebs nuk jan\u00eb raportuar, por n\u00ebse ka nevoja p\u00ebrfshin nj\u00eb kardiolog. Ndonj\u00ebher\u00eb nevojitet kirurgji. Terapia standarde e barnave p\u00ebrfshin: antikonvulsant\u00ebt dhe benzodiazepinat, terapi antipsikotike dhe elektrokonvulsive, alfa-agonist\u00eb dhe stimulues, melatonin, l\u00ebngje, barna antiemetike.<\/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 Phelan-McDermid ICD Q93.5 Prevalenca: 1\/8.000 &#8211; 15.000 Shkaqet: Sindroma Phelan-McDermid \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike e shkaktuar nga [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":188686,"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\/14-Phelan-McDermid-Syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/14-Phelan-McDermid-Syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"58","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 PHELAN-MCDERMID - \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-phelan-mcdermid\/\" \/>\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 PHELAN-MCDERMID - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma Phelan-McDermid ICD Q93.5 Prevalenca: 1\/8.000 &#8211; 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