{"id":139968,"date":"2021-02-24T09:36:13","date_gmt":"2021-02-24T08:36:13","guid":{"rendered":"https:\/\/sdk.mk\/?p=139968"},"modified":"2021-02-24T09:36:13","modified_gmt":"2021-02-24T08:36:13","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-pompe","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-pompe\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA POMPE"},"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=wMiagttda9I&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=24\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Pompe disease -S\u00ebmundja Pompe<\/strong><\/em><\/a><br \/>\nICD E74.0<br \/>\nPrevalenca: 1-9\/100.000<\/p>\n<p>S\u00ebmundja Pompe \u00ebsht\u00eb miopati progresive dhe metabolike e rrall\u00eb, me nj\u00eb prevalenc\u00eb globale prej 1 n\u00eb 40.000 lindje. B\u00ebn pjes\u00eb n\u00eb grupin e \u00e7rregullimeve t\u00eb akumulimit n\u00eb lizosome, dhe shkaktohet nga mungesa e enzim\u00ebs lizosomale alfa glukozidaza e cila e shp\u00ebrb\u00ebn glikogjenin e liosomeve n\u00eb glukoz\u00eb. Mungesa e k\u00ebsaj enzime \u00e7on n\u00eb depozitimin masiv t\u00eb glikogjenit n\u00eb indet e ndryshme, ve\u00e7an\u00ebrisht n\u00eb muskujt kardiak dhe skeletor (duke i p\u00ebrfshir\u00eb muskujt e frym\u00ebmarrjes). E gjith\u00eb kjo \u00e7on n\u00eb zhvillimin e kardiomiopatis\u00eb hipertrofike dhe dob\u00ebsis\u00eb progresive t\u00eb muskujve, si dhe \u00e7rregullim t\u00eb funksionit t\u00eb frym\u00ebmarrjes.<br \/>\nKjo s\u00ebmundje trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale-recisive. S\u00ebmundja \u00ebsht\u00eb shkaktuar nga nj\u00eb mutacion i gjenit i vendosur n\u00eb krahun e gjat\u00eb t\u00eb kromozomit 17. Shumica e rasteve jan\u00eb pasoj\u00eb e tre mutacioneve. Z\u00ebvend\u00ebsimi i timin\u00ebs n\u00eb guanin\u00eb si mutacion \u00ebsht\u00eb m\u00eb i zakonshmi n\u00eb form\u00ebn adulte t\u00eb k\u00ebtij \u00e7rregullimi.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nManifestimi klinik i s\u00ebmundjes Pompe mund t\u00eb p\u00ebrshkruhet si nj\u00eb spekt\u00ebr s\u00ebmundjesh q\u00eb nis nga forma infantile progresive gjer te forma e von\u00eb progresive.<br \/>\nN\u00eb form\u00ebn infantile t\u00eb s\u00ebmundjes Pompe, n\u00eb lindje mund t\u00eb mos jet\u00eb e pranishme asnj\u00eb simptom\u00eb. Kjo form\u00eb zakonisht manifestohet n\u00eb tre muajt e par\u00eb t\u00eb jet\u00ebs me dob\u00ebsi t\u00eb muskulore progresive, tonus t\u00eb ul\u00ebt muskulor (hipotoni), insufi\u00e7ienc\u00eb respiratore dhe nj\u00eb lloj s\u00ebmundjeje t\u00eb zemr\u00ebs e njohur si kardiomiopati hipertrofike, nj\u00eb gjendje e karakterizuar nga trashje anormale t\u00eb mureve t\u00eb zemr\u00ebs (kryesisht barkusha e majt\u00eb dhe septumi midis barkusheve) duke rezultuar n\u00eb r\u00ebnie t\u00eb funksionit kardiak. K\u00ebto probleme s\u00eb bashku kulmojn\u00eb me insufi\u00e7ienc\u00eb kardiorepiratore n\u00eb dy vitet e para t\u00eb jet\u00ebs. Shum\u00eb t\u00eb sapolindur kan\u00eb nj\u00eb gjuh\u00eb m\u00eb t\u00eb madhe dhe zgjerim t\u00eb moderuar t\u00eb m\u00ebl\u00e7is\u00eb. K\u00ebmb\u00ebt i kan\u00eb n\u00eb pozicion bretkose, dhe n\u00eb prekje indi i k\u00ebmb\u00ebve \u00ebsht\u00eb shum\u00eb i fort\u00eb (pseudohipertofi). Problemi i ngr\u00ebnies dhe g\u00eblltitjes \u00ebsht\u00eb i zakonsh\u00ebm, si dhe problemi i frym\u00ebmarrjes, k\u00ebshtu q\u00eb ata shpesh p\u00ebrfundojn\u00eb me infeksione t\u00eb traktit respirator. Zhvillimi motorik \u00ebsht\u00eb i ndaluar plot\u00ebsisht. Zhvillimi mendor \u00ebsht\u00eb zakonisht normal. Pothuajse t\u00eb gjith\u00eb t\u00eb porsalindurit p\u00ebrjetojn\u00eb humbje t\u00eb d\u00ebgjimit. Forma klasike infantile e s\u00ebmundjes Pompe karakterizohet nga nj\u00eb munges\u00eb e plot\u00eb e alfa-glukozidaz\u00ebs lizosomale, dhe si rezultat, glikogjeni akumulohet n\u00eb muskujt skeletor dhe n\u00eb zem\u00ebr.<br \/>\nForma e von\u00eb e s\u00ebmundjes Pompe manifestohet n\u00eb f\u00ebmij\u00ebri, adoleshenc\u00eb ose n\u00eb mosh\u00eb t\u00eb rritur. Kjo form\u00eb progreson m\u00eb ngadal\u00eb se forma infantile. Pacient\u00ebt me k\u00ebt\u00eb form\u00eb t\u00eb s\u00ebmundjes karakterizohen nga miopati progresive, mbizot\u00ebrojn\u00eb muskujt proksimal\u00eb t\u00eb legenit dhe shpatullave dhe \u00e7rregulime t\u00eb frym\u00ebmarrjes duke e \u00e7uar pacientin n\u00eb ventilim t\u00eb asistuar. Intervali kohor p\u00ebr t\u00eb cilin s\u00ebmundja p\u00ebrparon \u00ebsht\u00eb i ndryshuesh\u00ebm dhe i paparashikuesh\u00ebm. Te disa pacient\u00eb ka nj\u00eb keq\u00ebsim t\u00eb shpejt\u00eb t\u00eb funksionit t\u00eb muskujve t\u00eb frym\u00ebmarrjes dhe \u00e7on n\u00eb insufi\u00e7ienc\u00eb respiratore nd\u00ebrsa te pacient\u00ebt tjer\u00eb progresioni \u00ebsht\u00eb m\u00eb i ngadalt\u00eb. Te nj\u00eb grup tjet\u00ebr i pacient\u00ebve, v\u00ebrrehet disocim i insufi\u00e7ienc\u00ebs s\u00eb muskujve skeletor dhe kardiak.<br \/>\nDiagnostikimi:<br \/>\nDiagnostikimi i s\u00ebmundjes Pompe bazohet n\u00eb nj\u00eb vler\u00ebsim t\u00eb plot\u00eb klinik, anamnez\u00eb personale dhe familjare t\u00eb detajuar, t\u00eb gjitha k\u00ebto duke p\u00ebrdorur nj\u00eb larmi t\u00eb testeve diagnostikuese. Diagnoza prenatale \u00ebsht\u00eb e mundur vet\u00ebm p\u00ebr ato shtatz\u00ebni q\u00eb konsiderohen t\u00eb jen\u00eb n\u00eb rrezik p\u00ebr zhvillimin e s\u00ebmundjes Pompe.<br \/>\nN\u00eb form\u00ebn e hershme infantile, te foshnja v\u00ebrrehet ushqimi i v\u00ebshtirsuar, zhvillimi i dob\u00ebt dhe \u00e7rregullime t\u00eb frym\u00ebmarrjes. Tiparet tipike p\u00ebrfshijn\u00eb nj\u00eb zem\u00ebr t\u00eb zgjeruar me defekte jospecifike n\u00eb p\u00ebr\u00e7ueshm\u00ebrin\u00eb kardiake. Analizat e gjakut tregojn\u00eb nj\u00eb rritje t\u00eb kreatinin kinaz\u00ebs n\u00eb serum (zakonisht rreth 10-fish) shoq\u00ebruar me rritje t\u00eb lehta t\u00eb aldolaz\u00ebs n\u00eb serum, alanin\u00eb transaminaz\u00ebs, aspartat transaminaz\u00ebs dhe laktat dehidrogjenaz\u00ebs. Diagnoza konfirmohet nga vler\u00ebsimi i aktivitetit t\u00eb alfa &#8211; glukozidaz\u00ebs lizosomale p\u00ebrmes marrjes s\u00eb mostrave t\u00eb gjakut dhe analiz\u00ebs gjenetike.<br \/>\nN\u00eb form\u00ebn e von\u00eb, i rrituri gradualisht do t\u00eb zhvilloj\u00eb dob\u00ebsi progresive t\u00eb duarve dhe k\u00ebmb\u00ebve, me p\u00ebrkeq\u00ebsim t\u00eb funksionit t\u00eb frym\u00ebmarrjes. Elektromiografia mund t\u00eb p\u00ebrdoret p\u00ebr t\u00eb p\u00ebrjashtuar shkaqet tjera t\u00eb plog\u00ebshtis\u00eb s\u00eb gjymtyr\u00ebve. Analizat biokimike jan\u00eb t\u00eb ngjashme me ato t\u00eb form\u00ebs infantile, me faktin q\u00eb kreatinin kinaza mund t\u00eb jet\u00eb brenda kufijve normal\u00eb n\u00eb disa raste. Diagnostikimi b\u00ebhet duke vler\u00ebsuar aktivitetin e enzim\u00ebs duke marr\u00eb nj\u00eb most\u00ebr gjaku dhe nj\u00eb test gjenetik.<br \/>\nTrajtimi:<br \/>\nKomplikimet kardiake dhe respiratore trajtohen n\u00eb m\u00ebnyr\u00eb simptomatike. Terapia fizikale mund t\u00eb jet\u00eb e dobishme p\u00ebr disa pacient\u00eb. Ndryshimet dietike mund t\u00eb sigurojn\u00eb p\u00ebrmir\u00ebsim t\u00eb p\u00ebrkohsh\u00ebm, por nuk ndryshojn\u00eb rrjedh\u00ebn e s\u00ebmundjes. K\u00ebshillimi gjenetik mund t&#8217;u siguroj\u00eb familjeve informacion mbi rrezikun gjat\u00eb shtat\u00ebz\u00ebn\u00ebsive t\u00eb m\u00ebvonshme p\u00ebr t\u00eb lindur nj\u00eb f\u00ebmij\u00eb me k\u00ebt\u00eb s\u00ebmundje.<br \/>\nM\u00eb 28 Prill 2006, Administrata Amerikane e Ushqimit dhe Barnave (FDA) miratoi k\u00ebrkes\u00ebn p\u00ebr licenc\u00eb biologjike p\u00ebr Myosyme (Miozim, terapi z\u00ebvend\u00ebsuese enzimatike). N\u00eb fakt, Miozim \u00ebsht\u00eb terapia e par\u00eb p\u00ebr pacient\u00ebt me k\u00ebt\u00eb s\u00ebmundje. Diagnostikimi i hersh\u00ebm dhe trajtimi i hersh\u00ebm \u00e7ojn\u00eb n\u00eb nj\u00eb rezultat shum\u00eb m\u00eb t\u00eb mir\u00eb. Duhet t\u00eb theksohet se efektet an\u00ebsore t\u00eb tilla si ethe, skuqje t\u00eb l\u00ebkur\u00ebs, takikardi, madje edhe shok jan\u00eb t\u00eb mundshme.<br \/>\nM\u00eb 14 gusht 2006, Kanada miratoi Myosyme p\u00ebr trajtimin e pacient\u00ebve me s\u00ebmundjen Pompe. M\u00eb von\u00eb Myosyme mori miratim t\u00eb gjer\u00eb n\u00eb Bashkimin Evropian.<br \/>\nM\u00eb 26 maj 2010, FDA miratoi edhe Lumizim, nj\u00eb version i ngjash\u00ebm i Miozim, p\u00ebr trajtimin e form\u00ebs s\u00eb von\u00eb t\u00eb s\u00ebmundjes Pompe. Lumizim dhe Myozim kan\u00eb t\u00eb nj\u00ebjt\u00ebn p\u00ebrb\u00ebr\u00ebs gjenerik (alfa-glukozidaza). Dallimi midis k\u00ebtyre dy produkteve \u00ebsht\u00eb n\u00eb procesin e prodhimit.<br \/>\nPrognoza:<br \/>\nPrognoza p\u00ebr njer\u00ebzit me s\u00ebmundjen Pompe ndryshon n\u00eb var\u00ebsi t\u00eb fillimit dhe ashp\u00ebrsis\u00eb s\u00eb simptomave. Pa trajtim, s\u00ebmundja \u00ebsht\u00eb fatale, ve\u00e7an\u00ebrisht tek foshnjat dhe f\u00ebmij\u00ebt e vegj\u00ebl. Miozim \u00ebsht\u00eb nj\u00eb form\u00eb rekombinante e form\u00ebs humane t\u00eb alfa-glukozidaz\u00ebs lizozomale, e cila aktualisht p\u00ebrdoret si z\u00ebvend\u00ebsim i enzim\u00ebs q\u00eb mungon. Studimet tregojn\u00eb se trajtimi me Miozim zgjat n\u00eb m\u00ebnyr\u00eb t\u00eb qart\u00eb mbijetes\u00ebn e p\u00ebrgjithshme te pacient\u00ebt me form\u00ebn infantile t\u00eb s\u00ebmundjes Pompe. P\u00ebr m\u00eb tep\u00ebr, studimi zbuloi se fillimi i trajtimit para mosh\u00ebs 6 muajshe \u00e7on n\u00eb nj\u00eb ulje t\u00eb vdekshm\u00ebris\u00eb dhe paaft\u00ebsis\u00eb s\u00eb shoq\u00ebruar me k\u00ebt\u00eb \u00e7rregullim fatal. Tajvani dhe SHBA kan\u00eb filluar skriningun e t\u00eb porsalindurit. Rezultatet nga diagnostikimi dhe fillimi i hersh\u00ebm i terapis\u00eb n\u00eb m\u00ebnyr\u00eb dramatike p\u00ebrmir\u00ebsojn\u00eb prognoz\u00ebn e s\u00ebmundjes. Shum\u00eb prej k\u00ebtyre foshnjeve m\u00eb von\u00eb kan\u00eb zhvillim normal motorik.<\/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>Pompe disease -S\u00ebmundja Pompe ICD E74.0 Prevalenca: 1-9\/100.000 S\u00ebmundja Pompe \u00ebsht\u00eb miopati progresive dhe metabolike e rrall\u00eb, me nj\u00eb prevalenc\u00eb [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139966,"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\/24-Pompeova-bolest-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/24-Pompeova-bolest-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"381","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 POMPE - \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-pompe\/\" \/>\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 POMPE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Pompe disease -S\u00ebmundja Pompe ICD E74.0 Prevalenca: 1-9\/100.000 S\u00ebmundja Pompe \u00ebsht\u00eb miopati progresive dhe metabolike e rrall\u00eb, me nj\u00eb prevalenc\u00eb [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-pompe\/\" \/>\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=\"2021-02-24T08:36:13+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/24-Pompeova-bolest.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-pompe\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/24-Pompeova-bolest.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-pompe\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-semundja-pompe\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: S\\u00cbMUNDJA POMPE - \\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-pompe\/#primaryimage\"},\"datePublished\":\"2021-02-24T08:36:13+00:00\",\"dateModified\":\"2021-02-24T08:36:13+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-pompe\/\"]}]},{\"@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\/139968"}],"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=139968"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/139968\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/139966"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=139968"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=139968"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=139968"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}