{"id":107187,"date":"2020-02-18T08:24:15","date_gmt":"2020-02-18T07:24:15","guid":{"rendered":"https:\/\/sdk.mk\/?p=107187"},"modified":"2020-02-18T08:24:15","modified_gmt":"2020-02-18T07:24:15","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-fabri","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA FABRI"},"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=jh9ks8tdtFw&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=19&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>S\u00ebmundja Fabri<\/strong><\/em><\/a><br \/>\nKNS E75.2<br \/>\nFabry disease<\/p>\n<p>S\u00ebmundja Fabri gjithashtu quhet edhe Morbus Fabri ose Morbus Anderson \u2013 Fabri sipas mjek\u00ebve t\u00eb cil\u00ebt p\u00ebr her\u00eb t\u00eb par\u00eb e kan\u00eb p\u00ebrshkruar s\u00ebmundjen n\u00eb vitin 1898. Ajo \u00ebsht\u00eb s\u00ebmundje e rrall\u00eb. Trash\u00ebguese ku mungon enzima alfa- galaktozidaza A n\u00eb qelizat e trupit, e cila merr pjes\u00eb n\u00eb shp\u00ebrb\u00ebrjen e yndyrnave. Kjo munges\u00eb rezulton n\u00eb grumbullim t\u00eb yndyrnave t\u00eb caktuara n\u00eb t\u00eb gjitha en\u00ebt e gjakut dhe indet e organeve t\u00eb brendshme. S\u00ebmundja fillon qysh n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme, progredon ngadale gjat\u00eb jet\u00ebs dhe rezulton me d\u00ebmtim serioz t\u00eb veshkave, zemr\u00ebs dhe sistemin nervor qendror. S\u00ebmundja \u00ebsht\u00eb e rrezikshme p\u00ebr jet\u00ebn n\u00ebse nuk sh\u00ebrohet, gjer te vdekja vjen n\u00eb dekad\u00ebn e kat\u00ebrt apo t\u00eb pest\u00eb t\u00eb jet\u00ebs.<br \/>\nShenjat e s\u00ebmundjes te organizma t\u00eb drysh\u00ebm manifestohet n\u00eb m\u00ebnyr\u00eb t\u00eb posa\u00e7me:<br \/>\nTe burrat. Te p\u00ebrfaq\u00ebsuesit e gjinis\u00eb m\u00eb t\u00eb forte, s\u00ebmundja Anderson \u2013 Fabri, zakonisht fillon t\u00eb shfaqet n\u00eb f\u00ebmij\u00ebri. Shenjat e para jan\u00eb: dhimbje dhe djegje n\u00eb ekstremitete, Disa pacient\u00eb ankohen n\u00eb shfaqjen e skuqjes s\u00eb l\u00ebkur\u00ebs, e cila zakonisht e p\u00ebrfshin sip\u00ebrfaqen nga k\u00ebrthiza gjer te gjunj\u00ebt. Ashtu si\u00e7 s\u00ebmundja progredon ngadal\u00eb, simptoma serioze \u2013 shqet\u00ebsim n\u00eb bark, bu\u00e7itje n\u00eb vesh\u00eb, dhimbje shpine dhe nyje t\u00eb cilat manifestohen nga mosha 35 gjer 40 vje\u00e7.<br \/>\nTe grat\u00eb. N\u00eb trupin e gruas, s\u00ebmundja shfaq spekt\u00ebr t\u00eb gj\u00ebr\u00eb t\u00eb manifestimeve klinike. Gjersa disa paciente nuk jan\u00eb t\u00eb vet\u00ebdijsh\u00ebm p\u00ebr problemin e tyre, t\u00eb tjerat vuajn\u00eb nga distrofia e kornes\u00eb, lodhje, \u00e7rregullime kardiovaskulare, anhidroz\u00eb, \u00e7rregullime gastrointestinale, s\u00ebmundje t\u00eb veshkave, d\u00ebmtim t\u00eb syve, \u00e7rregullime neurologjike.<br \/>\nTe f\u00ebmij\u00ebt. Edhe pse n\u00eb shumic\u00ebn e rasteve simptomat e para t\u00eb s\u00ebmundjes shfaqen her\u00ebt, s\u00ebmundja Fabri te f\u00ebmij\u00ebt shpesh mbetet e pa v\u00ebrrejtur dhe progredon me mosh\u00ebn. Shenjat m\u00eb t\u00eb hershme jan\u00eb dhimbja dhe angiokeratomet, t\u00eb cil\u00ebt shpesh paraqiten pas vesh\u00ebve. Manifestime tjera t\u00eb s\u00ebmundjes te f\u00ebmij\u00ebt e vegj\u00ebl: tug me vjellje, marramendje, kok\u00ebdhimbje, ethe.<br \/>\nVar\u00ebsisht nga mosha, k\u00ebto simptoma mund t\u00eb ndryshojn\u00eb. Zhvillimi i s\u00ebmundjes dhe paraqitja e simptomave jan\u00eb plot\u00ebsisht individuale: ata nuk mund t\u00eb parashikohen dhe shpesh varren nga predispozicioni gjenetik. P\u00ebr shembull, nj\u00eb pacient nuk do t\u00eb thot\u00eb patjet\u00ebr t\u00eb ket\u00eb dhimbje p\u00ebrgjat\u00eb nervave periferik (iritim ose agjitim t\u00eb duarve), por prap\u00eb se prap\u00eb vuan nga Morbus Fabry. Shpesh ndodh q\u00eb pacient\u00ebt t\u00eb mos ken\u00eb asnj\u00eb shenj\u00eb t\u00eb s\u00ebmundjes me vite t\u00eb t\u00ebra, pasi q\u00eb grumbullimi i yndyrnave n\u00eb lizosome mund t\u00eb zgjas\u00eb shum\u00eb koh\u00eb para se t\u00eb shfaqet s\u00ebmundja me t\u00eb gjitha simptomat e saj. Disa njer\u00ebz mund t\u00eb jen\u00eb s\u00ebmur\u00eb me vite duke mos v\u00ebrrejtur asnj\u00eb shenj\u00eb t\u00eb s\u00ebmundjes dhe t\u00eb d\u00ebmtimit t\u00eb organeve vitale si\u00e7 jan\u00eb zemra, veshkat dhe truri.<br \/>\nShpesh ndodh f\u00ebmija ose njeriu i rritur me k\u00ebta simptoma t\u00eb vizitojn\u00eb nga 7 gjer n\u00eb 10 specialist\u00eb t\u00eb ndrysh\u00ebm para se t\u00eb v\u00ebrtetohet diagnoza sakt\u00eb, kurse diagnostikimi i hersh\u00ebm \u00ebsht\u00eb \u00e7elsi i sh\u00ebrimit t\u00eb suksessh\u00ebm. Simptomat e s\u00ebmundjes Fabri jan\u00eb shum\u00eb t\u00eb llojllojshme, dhe pasi q\u00eb s\u00ebmundja \u00ebsht\u00eb e rrall\u00eb, mjek\u00ebt shum\u00eb shpesh k\u00ebta simptoma ia p\u00ebrshkruajn\u00eb s\u00ebmundjeve apo kondicioneve tjera.<\/p>\n<p>Si diagnostikohet s\u00ebmundja Fabri?<br \/>\nPasi s\u00eb s\u00ebmundja Fabri \u00ebsht\u00eb shum\u00eb e rrall\u00eb dhe p\u00ebr shkak t\u00eb simptomave t\u00eb shumta, shum\u00eb v\u00ebshtir\u00eb \u00ebsht\u00eb t\u00eb vehet diagnoza e sakt\u00eb. Ndonj\u00ebher\u00eb nevojiten vite para se t\u00eb zbulohet s\u00ebmundja. Skriningu i gjakut dhe analiza e gjeneve e mund\u00ebsojn\u00eb diagnoz\u00ebn e sakt\u00eb. Analiza e gjakut e cakton a \u00ebsht\u00eb mjaftuesh\u00ebm aktive enzima a-GAL. Diagnoza e k\u00ebsaj s\u00ebmundje \u00ebsht\u00eb e mundshme edhe para se lind foshnja. Sa m\u00eb her\u00ebt nj\u00eb person diagnostikohet me s\u00ebmundjen Fabri aq m\u00eb shpejt\u00eb mund t\u00eb sh\u00ebrohet me terapi adekuate dhe me k\u00ebt\u00eb t\u00eb pengohet d\u00ebmtimi i organeve t\u00eb brendshme.<br \/>\nAnameza me prezantimin klinik dhe ekzaminimi objektiv b\u00ebhet patjet\u00ebr, por gjithashtu duhet t\u00eb b\u00ebhen edhe teste shtuese q\u00eb t\u00eb p\u00ebrcaktohet diagnoza sakt\u00eb. Ndonj\u00ebher\u00eb \u00ebsht\u00eb shum\u00eb v\u00ebshtir\u00eb t\u00eb diagnostikohet, pasi q\u00eb s\u00ebmundja shfaqet shum\u00eb rrall\u00eb.<br \/>\n\u00c7rregullimi i elektroliteve dhe parametrave t\u00eb funksionit t\u00eb veshkave (urea dhe kreatinina) si dhe prezenca e substancave yndyrore n\u00eb urin\u00eb mund t\u00eb v\u00ebrrehen gjat\u00eb analizave labaratorike.<br \/>\nTestimi laboratorik m\u00eb kompleks p\u00ebrfshin matjen e nivelit t\u00eb nj\u00eb lloji glikosfingolipidi dhe p\u00ebrcaktimin e funksionit t\u00eb enzim\u00ebs alfa galaktozidaza A.<br \/>\nNevojitet ekzaminim thelb\u00ebsor i zemr\u00ebs me ekosonografi t\u00eb zemr\u00ebs q\u00eb t\u00eb p\u00ebrcaktohet prezenca e mundshme e \u00e7rregullimeve strukturore t\u00eb valvulave t\u00eb zemr\u00ebs.<br \/>\nSkani (tomografia kompjuterike) dhe rezonanca magnetike e strukturave t\u00eb trurit realizohet q\u00eb t\u00eb p\u00ebrcaktohet d\u00ebmtimi i mundsh\u00ebm i trurit. N\u00ebse ndodh sulm n\u00eb tru apo manifestime t\u00eb ngjashme, nevojitet edhe ekzaminin i detajuar neurologjik.<br \/>\nBiopsia e ndryshimeve t\u00eb l\u00ebkur\u00ebs s\u00eb bashku me raportet histopatologjike tregojn\u00eb ndryshime tipike p\u00ebr s\u00ebmundjen Fabri.<br \/>\nN\u00ebse n\u00ebna ose babai kan\u00eb s\u00ebmundje Fabri, diagnoza mund t\u00eb p\u00ebrcaktohet edhe para se lind foshnja, me biopsin\u00eb e vileve koriale ose me amniocentez\u00eb, por k\u00ebto procedura bartin rrezik p\u00ebr abort spontan ose lindje t\u00eb parakohshme.<br \/>\nSi trajtohet s\u00ebmundja Fabri?<br \/>\nPak koh\u00eb m\u00eb par\u00eb \u00ebsht\u00eb implementuar terapi specifike e k\u00ebsaj s\u00ebmundjeje (terapi me z\u00ebvend\u00ebsim t\u00eb enzim\u00ebs, n\u00eb fakt p\u00ebrdorimi i alfa- galaktozidaz\u00ebs A e krijuar in vitro). Efekti afatgjat\u00eb \u00ebsht\u00eb n\u00eb faz\u00eb t\u00eb hulumtimit, por t\u00eb dy preparatet q\u00eb ekzistojn\u00eb premtojn\u00eb shum\u00eb. P\u00ebrmir\u00ebsimi i preparatit me bart\u00ebs farmakologjik p\u00ebr momentin \u00ebsht\u00eb n\u00eb analiza klinike. Trajtimi konvencional p\u00ebrb\u00ebhet nga trajtimi i dhimbjes me analgjetik\u00eb, mbrojtja e veshkave (p\u00ebrdorimi i inkibitor\u00ebve t\u00eb enzim\u00ebs kovertuese t\u00eb angiotensin\u00ebs si dhe blokator\u00eb t\u00eb receptorit t\u00eb angiotensin\u00ebs), preparate antiaritmike, pejsmejk\u00ebr ose defibrilator implantues, dijaliz\u00eb dhe transplant t\u00eb veshk\u00ebs.<\/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 Fabri KNS E75.2 Fabry disease S\u00ebmundja Fabri gjithashtu quhet edhe Morbus Fabri ose Morbus Anderson \u2013 Fabri sipas mjek\u00ebve [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":107185,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/18-Fabry-disease-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/18-Fabry-disease-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"3386","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: S\u00cbMUNDJA FABRI - \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-fabri\/\" \/>\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 FABRI - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"S\u00ebmundja Fabri KNS E75.2 Fabry disease S\u00ebmundja Fabri gjithashtu quhet edhe Morbus Fabri ose Morbus Anderson \u2013 Fabri sipas mjek\u00ebve [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2020-02-18T07:24:15+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/18-Fabry-disease.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/18-Fabry-disease.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: S\\u00cbMUNDJA FABRI - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/#primaryimage\"},\"datePublished\":\"2020-02-18T07:24:15+00:00\",\"dateModified\":\"2020-02-18T07:24:15+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-fabri\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/864d4cb4c82a45f771023b00a4aa5176\",\"name\":\"Biljana Nestoroska\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/107187"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=107187"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/107187\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/107185"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=107187"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=107187"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=107187"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}