{"id":137982,"date":"2021-02-02T12:21:54","date_gmt":"2021-02-02T11:21:54","guid":{"rendered":"https:\/\/sdk.mk\/?p=137982"},"modified":"2021-02-02T12:21:54","modified_gmt":"2021-02-02T11:21:54","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-e-aleksandrit","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-e-aleksandrit\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA E ALEKSANDRIT"},"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>Alexander disease<br \/>\n<a href=\"https:\/\/www.youtube.com\/watch?v=aLCTGI2zToM&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=2\" target=\"_blank\" rel=\"noopener noreferrer\">S\u00ebmundja e Aleksandrit<\/a> &#8211; Leukodistrofia metakromatike<br \/>\nICD E 75.2<br \/>\nPrevalenca: e panjohur<\/p>\n<p>Leukodistrofia metakromatike (MLD) ose s\u00ebmundja e Aleksandrit, \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike, neurometabolike, degjeneruese q\u00eb prek nj\u00eb n\u00eb 40.000 f\u00ebmij\u00eb n\u00eb t\u00eb gjith\u00eb bot\u00ebn. S\u00ebmundja e Aleksandrit u em\u00ebrua pas patologut australian Dr Stuart Alexander, i cili p\u00ebrshkroi p\u00ebr her\u00eb t\u00eb par\u00eb nj\u00eb rast infantil n\u00eb vitin 1949. S\u00ebmundja e Aleksandrit \u00ebsht\u00eb shkaktuar m\u00eb shpesh nga mutacione n\u00eb gjene, m\u00eb sakt\u00eb munges\u00eb e enzim\u00ebs arilsulfataza-A (ARSA). Kjo enzim\u00eb \u00ebsht\u00eb e nevojshme p\u00ebr shp\u00ebrb\u00ebrjen dhe pastrimin e qelizave nga sulfatidet. S\u00ebmundja e Aleksandrit, e quajtur edhe si munges\u00eb e arilsulfataza &#8211; A, \u00ebsht\u00eb pjes\u00eb e nj\u00eb grupi m\u00eb t\u00eb madh t\u00eb s\u00ebmundjeve t\u00eb depozitimit n\u00eb lizozome. M\u00eb sakt\u00eb, ky \u00e7rregullim ndikon n\u00eb formimin ose zhvillimin e mielin\u00ebs q\u00eb vepron si nj\u00eb izolues rreth fibrave nervore t\u00eb sistemit nervor periferik dhe qendror. Mungesa e k\u00ebsaj enzime, e cila ndihmon n\u00eb shp\u00ebrb\u00ebrjen e yndyrnave, \u00e7on n\u00eb depozitimin e lipideve n\u00eb indet e trurit, palc\u00ebn kurrizore dhe nervat periferik\u00eb. Si rezultat, truri dhe sistemi nervor kan\u00eb funksion t\u00eb d\u00ebmtuar. K\u00ebto ndryshime n\u00eb mb\u00ebshtjell\u00ebsen e mielin\u00ebs shkaktojn\u00eb simptoma t\u00eb ndryshme dob\u00ebsie, mpirje t\u00eb krah\u00ebve dhe k\u00ebmb\u00ebve, humbje t\u00eb funksioneve t\u00eb fituara, paraliz\u00eb, verb\u00ebri, sulme dhe vdekje.<br \/>\nSimptomat tjera jan\u00eb si te leukodistrofit\u00eb tjera:<br \/>\n&#8211; iritabilitet;<br \/>\n&#8211; v\u00ebshtir\u00ebsi n\u00eb t\u00eb ushqyer, g\u00eblltitje<br \/>\n&#8211; v\u00ebshtir\u00ebsi n\u00eb ecje;<br \/>\n&#8211; humbje t\u00eb kontrollit t\u00eb muskujve dhe r\u00ebnje aksidentale;<br \/>\n&#8211; t\u00eb folur t\u00eb v\u00ebshtir\u00ebsuar dhe t\u00eb pakuptuesh\u00ebm;<br \/>\n&#8211; hipotoni (tonus i zvog\u00ebluar i muskujve);<br \/>\n&#8211; tonus jonormal i madh i muskujve;<br \/>\n&#8211; l\u00ebvizje t\u00eb pazakonta e muskujve;<br \/>\n&#8211; ataksi (humbje e aft\u00ebsis\u00eb p\u00ebr koordinim t\u00eb l\u00ebvizjes s\u00eb muskujve);<br \/>\n&#8211; kuadriplegji (paraliz\u00eb e t\u00eb kat\u00ebr gjymtyr\u00ebve);<br \/>\n&#8211; nistagmus;<br \/>\n&#8211; atrofi e nervit optik;<br \/>\n&#8211; sjellje problematike;<br \/>\n&#8211; regresion psikomotorik;<br \/>\n&#8211; funksion mendor i ul\u00ebt;<br \/>\n&#8211; ndryshime n\u00eb ndjeshm\u00ebrin\u00eb e l\u00ebkur\u00ebs;<br \/>\n&#8211; distoni muskulare q\u00eb shkakton lakim t\u00eb trupit, kok\u00ebs, duarve dhe k\u00ebm\u00ebve.<br \/>\nEkzistojn\u00eb disa forma t\u00eb s\u00ebmundjes s\u00eb Aleksandrit:<br \/>\n&#8211; Forma e vonshme infantile<br \/>\nPas nj\u00eb periudhe t\u00eb rritjes dhe zhvillimit normal n\u00eb shikim t\u00eb par\u00eb, aft\u00ebsit\u00eb si ecja dhe t\u00eb folurit mund t\u00eb p\u00ebrkeq\u00ebsohen. F\u00ebmij\u00ebt e s\u00ebmur\u00eb kan\u00eb v\u00ebshtir\u00ebsi t\u00eb ecin pas vitit t\u00eb par\u00eb t\u00eb jet\u00ebs, v\u00ebshtir\u00ebsit\u00eb shfaqen nga mosha 15 deri n\u00eb 24 muaj. Simptomat p\u00ebrfshijn\u00eb nervoziz\u00ebm, dob\u00ebsi muskujsh, ngecje n\u00eb zhvillim, humbje progresive e shikimit q\u00eb \u00e7on n\u00eb verb\u00ebri, v\u00ebshtir\u00ebsi n\u00eb g\u00eblltitje, paraliz\u00eb dhe demenc\u00eb. Kur simptomat klinike b\u00ebhen t\u00eb dukshme, ato shfaqen me shpejt\u00ebsi dhe progredojn\u00eb p\u00ebr nj\u00eb koh\u00eb t\u00eb shkurt\u00ebr, me disa periudha t\u00eb shkurta t\u00eb stabilizimit. F\u00ebmija n\u00eb situat\u00ebn ekstreme, lidhet p\u00ebr shtrati, nuk mund t\u00eb flas\u00eb, nuk mund t\u00eb g\u00eblltis\u00eb, ka v\u00ebshtir\u00ebsi n\u00eb frym\u00ebmarrje. G\u00eblltitja b\u00ebhet m\u00eb e v\u00ebshtir\u00eb, k\u00ebshtu q\u00eb ushqyerja me tub b\u00ebhet e domosdoshme. P\u00ebr shkak se nuk ka kur\u00eb, shumica e f\u00ebmij\u00ebve me k\u00ebt\u00eb form\u00eb t\u00eb MLD vdesin gjer n\u00eb mosh\u00ebn 5 vje\u00e7, shpesh edhe m\u00eb her\u00ebt. Vdekja ndodh kryesisht si rezultat i infeksioneve, si\u00e7 \u00ebsht\u00eb pneumonia.<br \/>\n&#8211; Forma e hershme juvenile<br \/>\nShfaqet tek f\u00ebmij\u00ebt e mosh\u00ebs 4-6 vje\u00e7, k\u00ebshtu q\u00eb n\u00eb k\u00ebt\u00eb form\u00eb t\u00eb s\u00ebmundjes, funksionet motorike humbasin, f\u00ebmija ka probleme me sjelljen, nuk mund t\u00eb ec, ekziston v\u00ebshtir\u00ebsi n\u00eb t\u00eb folur dhe dhimbje n\u00eb ekstremitete p\u00ebr shkak t\u00eb p\u00ebrfshirjes s\u00eb nervit periferik. Kjo form\u00eb ka nj\u00eb p\u00ebrparim m\u00eb t\u00eb ngadalt\u00eb dhe njihet nga ataksia (humbja e aft\u00ebsis\u00eb p\u00ebr t\u00eb kontrolluar l\u00ebvizjet, \u00e7ekuilibrimi). Vdekja ndodh brenda 10 viteve nga fillimi i simptomave.<br \/>\n&#8211; Forma e vonshme juvenile<br \/>\nKjo form\u00eb fillon midis mosh\u00ebs 6 dhe 12 vje\u00e7, dhe simptomat mund t\u00eb b\u00ebhen t\u00eb dukshme n\u00eb vitet e hershme t\u00eb shkoll\u00ebs, kur d\u00ebmtimi i motorit ose r\u00ebnia konjitive mund t\u00eb tregojn\u00eb fillimin e s\u00ebmundjes. Simptomat mund t\u00eb p\u00ebrfshijn\u00eb inkontinenc\u00eb, v\u00ebshtir\u00ebsi n\u00eb ecje dhe n\u00eb t\u00eb folur.<br \/>\nKjo form\u00eb e s\u00ebmundjes s\u00eb Aleksandrit shpesh paraqitet si nj\u00eb ndryshim n\u00eb personalitet dhe sjellje, si dhe paaft\u00ebsi p\u00ebr t\u00eb m\u00ebsuar dhe punuar. Mund t\u00eb ndodhin sulme, d.m.th. dridhje e muskujve dhe m\u00eb n\u00eb fund pamund\u00ebsi p\u00ebr t\u00eb ecur. Faza e fundit e s\u00ebmundjes \u00ebsht\u00eb si n\u00eb form\u00ebn e von\u00eb infantile. Pacienti shpesh arrin pjekurin\u00eb.<br \/>\n&#8211; Forma adulte<br \/>\nSimptomat fillestare mund t\u00eb shfaqen prej n\u00eb mosh\u00ebn 14 vje\u00e7 dhe t\u00eb vazhdojn\u00eb t\u00eb shfaqen deri n\u00eb mosh\u00ebn 50 vje\u00e7. Simptomat q\u00eb shfaqen te kjo form\u00eb e s\u00ebmundjes s\u00eb Aleksandrit jan\u00eb: ndryshimi i personalitetit, humbja e aft\u00ebsis\u00eb p\u00ebr t\u00eb b\u00ebr\u00eb ndonj\u00eb pun\u00eb, demenc\u00eb e hershme me simptoma t\u00eb psikoz\u00ebs. K\u00ebta pacient\u00eb shpesh diagnostikohen gabim si skizofreni, depresion por n\u00eb fakt \u00ebsht\u00eb nj\u00eb person q\u00eb vuan nga s\u00ebmundja e Aleksandrit. Abuzimi me alkoolin dhe narkotik\u00ebt mund t\u00eb ndodh\u00eb edhe te njer\u00ebzit me k\u00ebt\u00eb s\u00ebmundje. Kjo form\u00eb keq\u00ebsohet m\u00eb ngadal\u00eb, dhe vdekja mund t\u00eb ndodh\u00eb disa dekada pas shfaqjes s\u00eb simptomave.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nP\u00ebr shkak se shkaku i s\u00ebmundjes s\u00eb Aleksandrit \u00ebsht\u00eb munges\u00eb e enzim\u00ebs arilsulfataza-A (ARSA), nj\u00eb test gjaku q\u00eb tregon nivele t\u00eb ul\u00ebta t\u00eb enzim\u00ebs n\u00eb t\u00eb v\u00ebrtet\u00eb flet p\u00ebr prezenc\u00ebn e leukodistrofis\u00eb metakromatike.<br \/>\nP\u00ebr momentin nuk ka sh\u00ebrim p\u00ebr s\u00ebmundjen e Aleksandrit. Trajtimi i vet\u00ebm \u00ebsht\u00eb transplanti i palc\u00ebs s\u00eb kockave ose qelizave staminale dhe ato jan\u00eb m\u00eb efektive n\u00eb ngadal\u00ebsimin ose ndalimin e s\u00ebmundjes tek njer\u00ebzit q\u00eb jan\u00eb n\u00eb fazat e hershme t\u00eb s\u00ebmundjes, n\u00eb faz\u00ebn parasimptomatike. Prandaj, diagnoza e hershme e k\u00ebsaj s\u00ebmundje \u00ebsht\u00eb shum\u00eb e r\u00ebnd\u00ebsishme.<\/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>Alexander disease S\u00ebmundja e Aleksandrit &#8211; Leukodistrofia metakromatike ICD E 75.2 Prevalenca: e panjohur Leukodistrofia metakromatike (MLD) ose s\u00ebmundja e [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":137980,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/02-Aleksandrova-bolest-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/02-Aleksandrova-bolest-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"810","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\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: S\u00cbMUNDJA E ALEKSANDRIT - \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\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-e-aleksandrit\/\" \/>\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: S\u00cbMUNDJA E ALEKSANDRIT - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Alexander disease S\u00ebmundja e Aleksandrit &#8211; 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