{"id":189370,"date":"2023-02-23T08:01:08","date_gmt":"2023-02-23T07:01:08","guid":{"rendered":"https:\/\/sdk.mk\/?p=189370"},"modified":"2023-02-23T08:01:08","modified_gmt":"2023-02-23T07:01:08","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-e-gaforres","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-semundja-e-gaforres\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA E GAFORRES"},"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=UDXWzqPfHQ8&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=23\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>S\u00ebmundja e gaforres\/Morbus Krabbe<\/strong><\/em><\/a><br \/>\nICD E75.2<br \/>\nPrevalenca: 1-9\/100.000<\/p>\n<p>\u00cbsht\u00eb nj\u00eb s\u00ebmundje gjenetike e rrall\u00eb dhe e r\u00ebnd\u00eb q\u00eb prek sistemin nervor dhe i p\u00ebrket nj\u00eb grupi m\u00eb t\u00eb gjer\u00eb s\u00ebmundjesh t\u00eb quajtura leukodistrofi. Pacient\u00ebt me k\u00ebt\u00eb s\u00ebmundje kan\u00eb munges\u00eb t\u00eb nj\u00eb enzime &#8211; galaktosilceramidaz\u00ebs, e cila rezulton n\u00eb humbjen e mb\u00ebshtjell\u00ebsit mbrojt\u00ebs t\u00eb mielin\u00ebs rreth nervave, nj\u00eb proces i quajtur demielinim, i cili do t\u00eb shkaktoj\u00eb kolapsin dhe vdekjen e vet\u00eb qeliz\u00ebs nervore dhe funksionimin e d\u00ebmtuar t\u00eb sistemit nervor. S\u00ebmundja \u00ebsht\u00eb shum\u00eb e rrall\u00eb dhe prek rreth 1 n\u00eb 100,000 njer\u00ebz n\u00eb Shtetet e Bashkuara, dhe nj\u00eb incidenc\u00eb disi m\u00eb e lart\u00eb prej 6 n\u00eb 1,000 \u00ebsht\u00eb raportuar n\u00eb disa komunitete t\u00eb izoluara n\u00eb Izrael.<\/p>\n<p><strong>Shenja dhe simptoma:<\/strong><br \/>\nEdhe pse kjo s\u00ebmundje mund t\u00eb filloj\u00eb m\u00eb von\u00eb n\u00eb jet\u00eb, m\u00eb shpesh rreth 85-90% e rasteve kan\u00eb t\u00eb ashtuquajtur\u00ebn form\u00eb infantile me shfaqjen e s\u00ebmundjes n\u00eb vitin e par\u00eb t\u00eb jet\u00ebs. Prandaj, simptomat e s\u00ebmundjes mund t\u00eb jen\u00eb t\u00eb ndryshme n\u00eb pacient\u00eb t\u00eb ndrysh\u00ebm, por n\u00eb p\u00ebrgjith\u00ebsi, zbatohet rregulli q\u00eb sa m\u00eb her\u00ebt t\u00eb filloj\u00eb s\u00ebmundja, aq m\u00eb i shpejt\u00eb \u00ebsht\u00eb p\u00ebrparimi i simptomave, k\u00ebshtu q\u00eb pacient\u00ebt me fillimin e s\u00ebmundjes m\u00eb von\u00eb n\u00eb jet\u00eb mund t\u00eb ken\u00eb simptoma m\u00eb t\u00eb lehta.<br \/>\nN\u00eb form\u00ebn infantile t\u00eb s\u00ebmundjes q\u00eb zakonisht shfaqet n\u00eb vitin e par\u00eb t\u00eb jet\u00ebs, f\u00ebmij\u00ebt e prekur zakonisht shfaqen t\u00eb sh\u00ebndetsh\u00ebm deri n\u00eb shfaqjen e shenjave dhe simptomave fillestare t\u00eb s\u00ebmundjes q\u00eb zakonisht p\u00ebrfshijn\u00eb nervoziz\u00ebm t\u00eb shtuar, v\u00ebshtir\u00ebsi n\u00eb g\u00eblltitje, t\u00eb vjella, episode t\u00eb etheve pa shenja infeksioni, mbindjeshm\u00ebri ndaj tingujve. Jan\u00eb prekur gjithashtu ekstremitetet q\u00eb mund t\u00eb shtrihen n\u00eb m\u00ebnyr\u00eb t\u00eb ngurt\u00eb n\u00eb ij\u00eb dhe gju me p\u00ebrkulje t\u00eb ky\u00e7it t\u00eb k\u00ebmb\u00ebs dhe gisht\u00ebrinjve t\u00eb k\u00ebmb\u00ebs. P\u00ebr shkak t\u00eb p\u00ebrfshirjes s\u00eb nervave periferik\u00eb, shfaqen simptoma t\u00eb tilla si dhimbje, dob\u00ebsi muskulore, skuqje ose ndjesi shpimi gjilp\u00ebrash, dhe nd\u00ebrsa s\u00ebmundja p\u00ebrparon, forca e muskujve vazhdon t\u00eb dob\u00ebsohet, duke e b\u00ebr\u00eb t\u00eb v\u00ebshtir\u00eb l\u00ebvizjen, p\u00ebrtypjen, g\u00eblltitjen dhe frym\u00ebmarrjen. Mund t\u00eb ndodhin edhe kriza epileptike. Fatkeq\u00ebsisht, p\u00ebr shkak t\u00eb ashp\u00ebrsis\u00eb s\u00eb vet\u00eb gjendjes, pacient\u00ebt me form\u00ebn infantile t\u00eb s\u00ebmundjes rrall\u00eb mbijetojn\u00eb mbi mosh\u00ebn dy vje\u00e7e.<br \/>\nShum\u00eb m\u00eb rrall\u00eb, s\u00ebmundja mund t\u00eb filloj\u00eb m\u00eb von\u00eb n\u00eb jet\u00eb, dometh\u00ebn\u00eb n\u00eb f\u00ebmij\u00ebri, adoleshenc\u00eb dhe madje edhe n\u00eb mosh\u00ebn madhore &#8211; form\u00eb me nj\u00eb fillim t\u00eb vont\u00eb t\u00eb s\u00ebmundjes. Tek k\u00ebta pacient\u00eb, paraqitja e s\u00ebmundjes \u00ebsht\u00eb disi m\u00eb e leht\u00eb, por shenjat dhe simptomat ndryshojn\u00eb shum\u00eb nga nj\u00ebri individ n\u00eb tjetrin. M\u00eb shpesh tek k\u00ebta pacient\u00eb gjejm\u00eb humbje t\u00eb kontrollit t\u00eb l\u00ebvizjeve vullnetare, d\u00ebmtim t\u00eb shikimit, probleme l\u00ebvizjeje, ngurt\u00ebsi progresive t\u00eb muskujve t\u00eb k\u00ebmb\u00ebs, probleme t\u00eb sjelljes, imazh t\u00eb \u00e7mendur ose kriza epileptike. Megjithat\u00eb, pacient\u00ebt me k\u00ebt\u00eb form\u00eb t\u00eb s\u00ebmundjes mbijetojn\u00eb p\u00ebr shum\u00eb vite pas shfaqjes s\u00eb simptomave.<\/p>\n<p><strong>Gjenetika dhe trash\u00ebgimia:<\/strong><br \/>\nS\u00ebmundja shkaktohet nga nj\u00eb mutacion &#8211; nj\u00eb ndryshim i p\u00ebrhersh\u00ebm n\u00eb sekuenc\u00ebn e ADN-s\u00eb q\u00eb kodon nj\u00eb gjen t\u00eb caktuar. Mutacioni do t\u00eb shkaktoj\u00eb nd\u00ebrprerje t\u00eb produktit p\u00ebrfundimtar q\u00eb kodon gjenin. Gjeni p\u00ebr k\u00ebt\u00eb s\u00ebmundje ndodhet n\u00eb kromozomin e 14-t\u00eb dhe mutacioni i tij shkakton munges\u00ebn e nj\u00eb enzimi q\u00eb \u00ebsht\u00eb vendimtar p\u00ebr funksionimin e duhur t\u00eb sistemit nervor. S\u00ebmundja trash\u00ebgohet n\u00eb nj\u00eb m\u00ebnyr\u00eb autosomale recesive, q\u00eb do t\u00eb thot\u00eb se n\u00ebse t\u00eb dy prind\u00ebrit jan\u00eb bart\u00ebs t\u00eb mutacionit t\u00eb gjeneve, \u00e7do f\u00ebmij\u00eb do t\u00eb ket\u00eb mund\u00ebsi 25% p\u00ebr t\u00eb zhvilluar dhe shfaqur s\u00ebmundjen, nj\u00eb mund\u00ebsi prej 25% p\u00ebr t\u00eb mos qen\u00eb as bart\u00ebs dhe as i prekur nga s\u00ebmundje dhe 50% mund\u00ebsi p\u00ebr t\u00eb qen\u00eb vet\u00ebm bart\u00ebs i gjenit t\u00eb mutuar pa shfaqur simptoma t\u00eb s\u00ebmundjes, ashtu si prind\u00ebrit e tij.<\/p>\n<p><strong>Diagnostifikimi:<\/strong><br \/>\nDiagnoza p\u00ebrfshin nj\u00eb ekzaminim t\u00eb detajuar klinik dhe analiz\u00eb t\u00eb simptomave, CT dhe MRI t\u00eb trurit, studime t\u00eb p\u00ebr\u00e7ueshm\u00ebris\u00eb nervore, ekzaminimin e shikimit, analizat e gjakut q\u00eb mund t\u00eb p\u00ebrcaktojn\u00eb nivelin e aktivitetit t\u00eb enzim\u00ebs galaktosilceramidaz\u00eb, mungesa e s\u00eb cil\u00ebs \u00ebsht\u00eb shkaku qendror i s\u00ebmundjes dhe m\u00eb n\u00eb fund konfirmohet nga testimi gjenetik. S\u00ebmundja mund t\u00eb zbulohet edhe para lindjes s\u00eb f\u00ebmij\u00ebs me teste prenatale n\u00ebp\u00ebrmjet amniocentez\u00ebs. Tek familjet ku ka histori familjare t\u00eb k\u00ebsaj s\u00ebmundjeje rekomandohet konsultimi gjenetik p\u00ebr planifikimin familjar.<\/p>\n<p><strong>Trajtimi:<\/strong><br \/>\nAktualisht nuk ka kur\u00eb p\u00ebr k\u00ebt\u00eb s\u00ebmundje. Kujdesi paliativ dhe nj\u00eb qasje multidisiplinare proaktive jan\u00eb trajtimi thelb\u00ebsor i disponuesh\u00ebm p\u00ebr shumic\u00ebn e pacient\u00ebve. Q\u00ebllimi i menaxhimit t\u00eb mir\u00eb t\u00eb simptomave \u00ebsht\u00eb t\u00eb p\u00ebrmir\u00ebsoj\u00eb cil\u00ebsin\u00eb e jet\u00ebs s\u00eb pacient\u00ebve, dhe kjo p\u00ebrfshin trajtimin farmakologjik dhe jo-farmakologjik me terapi fizikale profesionale dhe konsultim me nj\u00eb terapist t\u00eb t\u00eb folurit.Megjithat\u00eb, p\u00ebr pacient\u00ebt q\u00eb jan\u00eb diagnostikuar para fillimit t\u00eb simptomave ose n\u00eb rastet kur s\u00ebmundja fillon m\u00eb von\u00eb n\u00eb jet\u00eb, trajtimi me transplant t\u00eb indit hematopoietik \u00ebsht\u00eb i mundur. Me transplantim mund t\u00eb stabilizohet ecuria e s\u00ebmundjes dhe t\u00eb zgjatet jeta e personit t\u00eb trajtuar. Megjithat\u00eb, ky lloj trajtimi \u00ebsht\u00eb i v\u00ebshtir\u00eb p\u00ebr t&#8217;u aksesuar dhe deri m\u00eb tani \u00ebsht\u00eb p\u00ebrdorur n\u00eb nj\u00eb num\u00ebr t\u00eb vog\u00ebl pacient\u00ebsh. Ekziston edhe nj\u00eb p\u00ebrpjekje p\u00ebr terapi gjenetike n\u00eb studimet eksperimentale.<br \/>\nN\u00eb foshnjat me nj\u00eb fillim t\u00eb hersh\u00ebm t\u00eb s\u00ebmundjes, vdekja zakonisht ndodh para vitit t\u00eb dyt\u00eb t\u00eb jet\u00ebs. F\u00ebmij\u00ebt q\u00eb e zhvillojn\u00eb s\u00ebmundjen m\u00eb von\u00eb n\u00eb jet\u00eb jetojn\u00eb pak m\u00eb gjat\u00eb, por zakonisht vdesin brenda 2 deri n\u00eb 7 vite pas diagnostifikimit.<\/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>S\u00ebmundja e gaforres\/Morbus Krabbe ICD E75.2 Prevalenca: 1-9\/100.000 \u00cbsht\u00eb nj\u00eb s\u00ebmundje gjenetike e rrall\u00eb dhe e r\u00ebnd\u00eb q\u00eb prek sistemin [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":189372,"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\/23-Morbus-Krabbe-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/23-Morbus-Krabbe-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"269","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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