{"id":166289,"date":"2022-02-18T08:49:41","date_gmt":"2022-02-18T07:49:41","guid":{"rendered":"https:\/\/sdk.mk\/?p=166289"},"modified":"2022-02-18T08:49:41","modified_gmt":"2022-02-18T07:49:41","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-marfan","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-marfan\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA MARFAN"},"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 Marfan\/Marfan syndrome<\/strong><\/em><\/p>\n<p lang=\"mk-MK\">ICD 10: Q 87.4<\/p>\n<p lang=\"mk-MK\">Prevalenca: 1-5\/10.000<\/p>\n<p lang=\"mk-MK\">Sindroma Marfan \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb q\u00eb ndodh si rezultat i \u00e7rregullimeve t\u00eb indit lidh\u00ebs dhe \u00e7ojn\u00eb n\u00eb ndryshime n\u00eb sy, kocka dhe sistemin kardiovaskular. Kjo sindrom\u00eb \u00ebsht\u00eb e rrall\u00eb, por n\u00eb t\u00eb nj\u00ebjt\u00ebn koh\u00eb \u00ebsht\u00eb nj\u00eb nga s\u00ebmundjet m\u00eb t\u00eb zakonshme t\u00eb indit lidh\u00ebs dhe prek grat\u00eb dhe burrat n\u00eb m\u00ebnyr\u00eb t\u00eb barabart\u00eb.<\/p>\n<p lang=\"mk-MK\">Sindroma Marfan \u00ebsht\u00eb em\u00ebruar pas Antoine Marfan, nj\u00eb pediat\u00ebr francez i cili e p\u00ebrshkroi p\u00ebr her\u00eb t\u00eb par\u00eb gjendjen n\u00eb 1896 pasi vuri re gishtat dhe gjymtyr\u00ebt shum\u00eb t\u00eb gjata n\u00eb nj\u00eb vajz\u00eb pes\u00ebvje\u00e7are. Gjeni i lidhur me s\u00ebmundjen u identifikua p\u00ebr her\u00eb t\u00eb par\u00eb nga Francesco Ramirez n\u00eb Qendr\u00ebn Mjek\u00ebsore Mount Sinai n\u00eb Nju Jork n\u00eb 1991. Sindroma Marfan shkaktohet nga defekte ose fshirje (mutacione) n\u00eb gjenin fibrilin\u00eb-1 (FBN 1).<\/p>\n<p lang=\"mk-MK\"><strong>Simptomat:<\/strong><\/p>\n<p lang=\"mk-MK\">Ashp\u00ebrsia e s\u00ebmundjes ndryshon shum\u00eb. Pacient\u00ebt jan\u00eb m\u00eb t\u00eb gjat\u00eb se mesatarja p\u00ebr nj\u00eb mosh\u00eb t\u00eb caktuar dhe gjer\u00ebsia e krah\u00ebve t\u00eb shtrir\u00eb tejkalon lart\u00ebsin\u00eb e trupit. Araknodaktilia (gishtat e gjat\u00eb dhe t\u00eb holl\u00eb n\u00eb m\u00ebnyr\u00eb disproporcionale) \u00ebsht\u00eb e dukshme, shpesh me nj\u00eb shenj\u00eb n\u00eb gishtin e madh. Simptomat shtes\u00eb p\u00ebrfshijn\u00eb nyjet jonormale fleksibile (hipermobiliteti i nyjeve), k\u00ebmb\u00ebt e sheshta, gisht\u00ebrinjt\u00eb q\u00eb jan\u00eb gjith\u00ebmon\u00eb t\u00eb mbledhur dhe nuk mund t\u00eb zgjaten ose drejtohen plot\u00ebsisht (kamptodaktilia ose klinodaktilia) dhe zvog\u00eblim t\u00eb zgjatjes s\u00eb b\u00ebrrylit. N\u00eb disa raste, nyjet mund t\u00eb mos preken ose mund t\u00eb shfaqen kontraktura. Shum\u00eb njer\u00ebz me sindrom\u00ebn Marfan zhvillojn\u00eb anomali kurrizore, t\u00eb tilla si lakimi progresiv i shtyll\u00ebs kurrizore (skolioza) q\u00eb mund t\u00eb jet\u00eb i but\u00eb ose i r\u00ebnd\u00eb. Skolioza mund t\u00eb shoq\u00ebrohet me dhimbje shpine. Tek f\u00ebmij\u00ebt, anomalit\u00eb skeletore mund t\u00eb p\u00ebrparojn\u00eb me shpejt\u00ebsi gjat\u00eb fazave t\u00eb rritjes s\u00eb shpejt\u00eb, si\u00e7 \u00ebsht\u00eb adoleshenca.<\/p>\n<p lang=\"mk-MK\">Njer\u00ebzit me sindrom\u00ebn Marfan mund t\u00eb ken\u00eb disa tipare t\u00eb shprehura t\u00eb fytyr\u00ebs, duke p\u00ebrfshir\u00eb nj\u00eb kafk\u00eb t\u00eb gjat\u00eb dhe t\u00eb ngusht\u00eb (dolikocefali), sy t\u00eb vendosur thell\u00eb (enophthalmos), nj\u00eb nofull anormalisht t\u00eb vog\u00ebl (mikrognatia) dhe t\u00eb thell\u00eb (retrognathia), me moll\u00ebza anormalisht t\u00eb sheshta dhe sy me \u00e7arje palpebrale t\u00eb pjerr\u00ebta teposht\u00eb. T\u00eb dy lentet e syve mund t\u00eb jen\u00eb t\u00eb zhvendosura. Pacienti mund t\u00eb jet\u00eb jasht\u00ebzakonisht drit\u00ebshkurt\u00eb, dhe retina mund t\u00eb shk\u00ebputet (ablacioni retinal), duke rezultuar n\u00eb humbje t\u00eb konsiderueshme t\u00eb shikimit.<\/p>\n<p lang=\"mk-MK\">Komplikimet m\u00eb t\u00eb r\u00ebnda ndodhin p\u00ebr shkak t\u00eb ndryshimeve patologjike n\u00eb daljen e aort\u00ebs dhe aort\u00ebs ascendente. Aorta gradualisht zgjerohet duke filluar nga sinuset koronare. Dalja e aort\u00ebs zgjerohet te 50% e f\u00ebmij\u00ebve dhe te 60 deri n\u00eb 80% e t\u00eb rriturve, dhe mund t\u00eb shkaktoj\u00eb regurgitim t\u00eb aort\u00ebs. Endokarditi bakterial mund t\u00eb zhvillohet. Valvulat e buta mund t\u00eb shkaktojn\u00eb prolaps ose insuficienc\u00eb t\u00eb valvul\u00ebs mitrale, duke shkaktuar klikim sistolik dhe zhurm\u00eb t\u00eb von\u00eb sistolike. Mund t\u00eb zhvillohet s\u00ebmundje cistike e mushk\u00ebrive dhe pneumotoraks spontan i p\u00ebrs\u00ebritur.<\/p>\n<p lang=\"mk-MK\"><strong>Diagnoza:<\/strong><\/p>\n<p lang=\"mk-MK\">Diagnostifikimi i sindrom\u00ebs Marfan mund t\u00eb jet\u00eb i v\u00ebshtir\u00eb sepse simptomat ndryshojn\u00eb n\u00eb m\u00ebnyr\u00eb t\u00eb konsiderueshme nga personi n\u00eb person. Ato nuk shfaqen n\u00eb t\u00eb nj\u00ebjt\u00ebn koh\u00eb ose n\u00eb t\u00eb nj\u00ebjtin intensitet. Shum\u00eb prej tyre kan\u00eb pak simptoma dhe shenja tipike dhe nuk kan\u00eb ndryshime specifike histologjike ose biokimike. N\u00eb 99% t\u00eb rasteve, \u00ebsht\u00eb e mundur t\u00eb p\u00ebrdoren teste gjenetike p\u00ebr t\u00eb konfirmuar diagnoz\u00ebn e sindrom\u00ebs Marfan. Sidoqoft\u00eb, \u00ebsht\u00eb nj\u00eb proces i shtrenjt\u00eb sepse nj\u00eb gjen mund t\u00eb p\u00ebsoj\u00eb mutacion n\u00eb m\u00eb shum\u00eb se 3,000 m\u00ebnyra.<\/p>\n<p lang=\"mk-MK\">N\u00eb shumic\u00ebn e rasteve, diagnoza e sindrom\u00ebs Marfan bazohet n\u00eb nj\u00eb ekzaminim t\u00eb holl\u00ebsish\u00ebm fizik dhe vler\u00ebsim t\u00eb kujdessh\u00ebm t\u00eb historis\u00eb mjek\u00ebsore dhe familjare t\u00eb individit. Ekzaminimi me ultratinguj i zemr\u00ebs \u00ebsht\u00eb i detyruesh\u00ebm, ku v\u00ebmendje e ve\u00e7ant\u00eb i kushtohet gjendjes s\u00eb valvulave t\u00eb zemr\u00ebs dhe rr\u00ebnj\u00ebve t\u00eb aort\u00ebs. Metoda t\u00eb tjera p\u00ebrfshijn\u00eb rezonanc\u00eb magnetike dhe tomografi kompjuterike. Rekomandohet ekzaminim i rregullt vjetor i dimensioneve t\u00eb pjes\u00ebs fillestare t\u00eb aort\u00ebs duke p\u00ebrdorur ekzaminimin me ultratinguj dhe monitorimin e progresit t\u00eb ndryshimeve. Rekomandohet gjithashtu monitorimi i ndryshimeve oftalmike. Njohja e shenjave t\u00eb sindrom\u00ebs Marfan mund t\u00eb shp\u00ebtoj\u00eb jet\u00eb.<\/p>\n<p lang=\"mk-MK\"><strong>Trajtimi:<\/strong><\/p>\n<p lang=\"mk-MK\">Nj\u00eb ekip ekspert\u00ebsh \u00ebsht\u00eb i p\u00ebrfshir\u00eb n\u00eb trajtim: kardiolog, okulist, pediat\u00ebr, ortoped dhe gjenetist. Trajtimi fokusohet n\u00eb parandalimin dhe trajtimin e komplikimeve. Te vajzat shum\u00eb t\u00eb larta, lart\u00ebsia e mundshme mund t\u00eb zvog\u00eblohet duke shkaktuar pubertet n\u00eb mosh\u00ebn 10 vje\u00e7, me p\u00ebrdorimin e estrogjenit dhe progesteronit.<\/p>\n<p lang=\"mk-MK\">P\u00ebrdorimi i reserpin\u00ebs dhe propranololit mund t\u00eb ndihmoj\u00eb n\u00eb parandalimin e zgjerimit t\u00eb diseksionit t\u00eb aort\u00ebs pasi k\u00ebto barna zvog\u00eblojn\u00eb v\u00ebllimin e rrjedhjes s\u00eb gjakut. N\u00ebse aorta zgjerohet, zona e prekur ndonj\u00ebher\u00eb mund t\u00eb riparohet n\u00eb m\u00ebnyr\u00eb kirurgjikale. Grat\u00eb shtatz\u00ebna jan\u00eb ve\u00e7an\u00ebrisht t\u00eb rrezikuara p\u00ebr komplikime t\u00eb aort\u00ebs; mund\u00ebsia e korrigjimit t\u00eb aort\u00ebs duhet diskutuar para konceptimit.<\/p>\n<p lang=\"mk-MK\">Problemet skeletore q\u00eb rezultojn\u00eb nga sindroma Marfan ndonj\u00ebher\u00eb mund t\u00eb shkaktojn\u00eb dhimbje dhe parehati t\u00eb konsiderueshme. 70% e njer\u00ebzve me sindrom\u00ebn Marfan kan\u00eb dhimbje n\u00eb nyje. Q\u00ebndrimi i mir\u00eb, st\u00ebrvitja dhe p\u00ebrdorimi i pajisjeve q\u00eb mbrojn\u00eb nyjet mund t\u00eb jen\u00eb shum\u00eb t\u00eb dobishme. Fizioterapia p\u00ebrdor nj\u00eb s\u00ebr\u00eb metodash q\u00eb mund t\u00eb ndihmojn\u00eb n\u00eb l\u00ebvizjen dhe forcimin e muskujve.<\/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 Marfan\/Marfan syndrome ICD 10: Q 87.4 Prevalenca: 1-5\/10.000 Sindroma Marfan \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb q\u00eb ndodh si rezultat [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166290,"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\/18-Marfan-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/18-Marfan-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"1020","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 - 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