{"id":188090,"date":"2023-02-06T09:06:15","date_gmt":"2023-02-06T08:06:15","guid":{"rendered":"https:\/\/sdk.mk\/?p=188090"},"modified":"2023-02-06T10:45:34","modified_gmt":"2023-02-06T09:45:34","slug":"ju-njoftojme-me-semundjet-e-rralla-mungesa-e-karnitin-palmitoiltransferazes-2","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-mungesa-e-karnitin-palmitoiltransferazes-2\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: MUNGESA E KARNITIN PALMITOILTRANSFERAZ\u00cbS 2"},"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><span style=\"font-size: medium;\">Mungesa e karnitin palmitoiltransferaz\u00ebs 2\/Carnitine palmitoyltransferase (CPTII) deficienc<\/span><\/strong><\/em><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">ICD \u041571.3<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Prevalenca:&lt; 1-9\/100.000<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Mungesa e karnitin palmitoiltransferaz\u00ebs 2 \u00ebsht\u00eb nj\u00eb s\u00ebmundje shum\u00eb e rrall\u00eb e trash\u00ebguar q\u00eb \u00e7on n\u00eb dob\u00ebsi t\u00eb muskujve dhe mialgji. Ka 3 forma: neonatale vdekjeprur\u00ebse, forma e r\u00ebnd\u00eb hepatokardiomuskulare infantile dhe forma miopatike. N\u00eb praktik\u00ebn klinike m\u00eb s\u00eb shpeshti konstatohet forma miopatike (86%), e cila karakterizohet nga dhimbje dhe dob\u00ebsi muskulore e ndjekur nga episode t\u00eb p\u00ebrs\u00ebritura t\u00eb rabdomioliz\u00ebs, t\u00eb provokuara nga aktiviteti fizik, agj\u00ebrimi dhe gjendjet febrile. Forma e r\u00ebnd\u00eb infantile (8 %) karakterizohet me mosp\u00ebrballje t\u00eb uris\u00eb q\u00eb \u00e7on n\u00eb hipoglikemi hipoketotike dhe encefalopati hepatike. Forma vdekjeprur\u00ebse neonatale (6 %) \u00e7on n\u00eb ndryshime dismorfike t\u00eb organeve (p.sh. veshkat displastike cistike) dhe ka nj\u00eb p\u00ebrfundim fatal.<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Shkaqet e s\u00ebmundjes:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">M\u00eb shum\u00eb se 60 mutacione gjenetike shkaktojn\u00eb z\u00ebvend\u00ebsimin ose fshirjen e aminoacideve q\u00eb \u00e7ojn\u00eb n\u00eb zhvillimin e k\u00ebsaj s\u00ebmundjeje. S\u00ebmundja \u00ebsht\u00eb e kusht\u00ebzuar gjenetikisht (autozomale-recesive) dhe manifestohet me oksidim t\u00eb \u00e7rregulluar t\u00eb acideve yndyrore me zinxhir\u00eb t\u00eb gjat\u00eb n\u00eb mitokondriet e qelizave muskulore. Kjo \u00e7on n\u00eb uljen e furnizimit me energji t\u00eb muskujve skeletor\u00eb q\u00eb rezulton n\u00eb mialgji dhe dob\u00ebsi t\u00eb muskujve, e ndjekur nga nj\u00eb rritje e kreatinin kinaz\u00ebs (CK) dhe mioglobin\u00ebs. S\u00ebmundja nuk \u00ebsht\u00eb e nj\u00ebjt\u00eb te t\u00eb gjith\u00eb pacient\u00ebt. Disa pacient\u00eb mund t\u00eb ken\u00eb nj\u00eb form\u00eb t\u00eb leht\u00eb me episode m\u00eb pak t\u00eb shpeshta, nd\u00ebrsa t\u00eb tjer\u00eb mund t\u00eb zhvillojn\u00eb nj\u00eb s\u00ebmundje t\u00eb r\u00ebnd\u00eb me pasoja fatale.<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Simptomat e s\u00ebmundjes:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Simptomat e s\u00ebmundjes ndryshojn\u00eb n\u00eb var\u00ebsi t\u00eb form\u00ebs, por simptomat m\u00eb t\u00eb zakonshme t\u00eb k\u00ebsaj s\u00ebmundjeje jan\u00eb: <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Forma miopatike: <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; mialgji dhe dob\u00ebsi muskulore; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; kardiomiopati; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; rabdomioliz\u00eb;<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; urinim i reduktuar me nj\u00eb ngjyr\u00eb karakteristike t\u00eb urin\u00ebs (ngjyr\u00eb t\u00eb Coca Cola); <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; vlera t\u00eb larta t\u00eb kreatinin kinaz\u00ebs (CK) dhe mioglobin\u00ebs n\u00eb gjak; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; d\u00ebmtim akut i veshkave me vlera t\u00eb larta t\u00eb produkteve t\u00eb degradimit n\u00eb gjak (ure dhe kreatinin\u00eb); <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; rritja e enzimave hepatike n\u00eb gjak (laktat dehidrogjenaza-LDH, aspartat aminotransferaza AST, alanin\u00eb aminotransaminaza ALT).<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Forma e r\u00ebnd\u00eb infantile:<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; dob\u00ebsi e muskujve; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; anomalit\u00eb e fytyr\u00ebs; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; kardiomiopati, aritmi; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; encefalopati; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; komplikime respiratore; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; hipoglikemi; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; jet\u00ebgjat\u00ebsi e shkurt\u00ebr; <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; koma dhe vdekja e papritur. <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Forma vdekjeprur\u00ebse neonatale: <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; ndryshime dismorfike t\u00eb organeve (m\u00ebl\u00e7is\u00eb, veshkave, zemr\u00ebs); <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">&#8211; jet\u00ebgjat\u00ebsi nga disa jav\u00eb n\u00eb nj\u00eb muaj;<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Pasojat e s\u00ebmundjes:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Pacient\u00ebt me form\u00ebn miopatike kan\u00eb nj\u00eb jet\u00ebgjat\u00ebsi normale. Megjithat\u00eb, ata duhet t\u00eb shmangin aktivitetet e r\u00ebnda fizike, t\u00eb marrin rregullisht ushqim t\u00eb pasur me karbohidrate dhe t\u00eb jen\u00eb n\u00ebn mbik\u00ebqyrjen mjek\u00ebsore gjat\u00eb kushteve febrile. P\u00ebr dallim nga forma miopatike, pacient\u00ebt me nj\u00eb form\u00eb t\u00eb r\u00ebnd\u00eb infantile dhe vdekjeprur\u00ebse kan\u00eb nj\u00eb jet\u00ebgjat\u00ebsi t\u00eb shkurt\u00ebr q\u00eb karakterizohet nga nj\u00eb pasqyr\u00eb e r\u00ebnd\u00eb klinike n\u00eb var\u00ebsi t\u00eb organeve t\u00eb prekura.<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Diagnoza:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Foshnjat mund t\u00eb diagnostikohen me teste standarde p\u00ebr skrinim. P\u00ebr dallim prej tyre, pacient\u00ebt me nj\u00eb histori t\u00eb shfaqjes s\u00eb s\u00ebmundjes pas sforcimeve t\u00eb zgjatura fizike diagnostikohen n\u00eb baz\u00eb t\u00eb pasqyr\u00ebs klinike (urin\u00eb me ngjyr\u00eb t\u00eb koka kol\u00ebs) dhe vlerave t\u00eb ngritura laboratorike (mioglobina, kreatinin kinaza, LDH, AST, ALT, urea dhe kreatinina). Nj\u00eb test specifik p\u00ebr diagnostikimin e s\u00ebmundjes \u00ebsht\u00eb \u201ctandem mass spectrometry\u201d t\u00eb acilkarnitineve t\u00eb serumit ose plazm\u00ebs, me analiza mutacioni dhe me matje t\u00eb aktivitetit t\u00eb enzim\u00ebs (CPT2) n\u00eb limfocite, mastocite ose fibroblaste. Diagnoza prenatale bazohet n\u00eb teste t\u00eb kombinuara molekulare dhe enzimatike. Megjithat\u00eb, duhet theksuar se ekziston nj\u00eb rrezik prej 25% p\u00ebr zhvillimin e nj\u00eb forme t\u00eb r\u00ebnd\u00eb infantile dhe vdekjeprur\u00ebse pavar\u00ebsisht diagnoz\u00ebs prenatale.<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Trajtimi i s\u00ebmundjes:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Trajtimi p\u00ebr t\u00eb gjith\u00eb pacient\u00ebt \u00ebsht\u00eb individual. Forma miopatike prognoza \u00ebsht\u00eb e mir\u00eb. Por me shfaqjen e simptomave t\u00eb para, duhet t\u00eb k\u00ebrkohet k\u00ebshilla e mjekut. Ajo q\u00eb \u00ebsht\u00eb e r\u00ebnd\u00ebsishme t\u00eb theksohet \u00ebsht\u00eb se nuk ka medikament q\u00eb mund ta sh\u00ebroj\u00eb s\u00ebmundjen, por terapia n\u00ebnkupton zbatimin e nj\u00eb regjimi higjieno-dietik. Diagnoza e k\u00ebsaj sindrome bazohet n\u00eb ekzaminimin klinik dhe testimin gjenetik (analiza molekulare). Mjeku q\u00eb monitoron gjendjen e pacientit rekomandon shmangien e aktiviteteve t\u00eb r\u00ebnda fizike, shmangien e agj\u00ebrimit (pra t\u00eb mos mbeten pa ngr\u00ebn\u00eb ushqime t\u00eb pasura me sheqerna). Gjithashtu rekomandohet marrja e l\u00ebngjeve prej 2 deri n\u00eb 3 litra n\u00eb 24 or\u00eb. \u00cbsht\u00eb karakteristik\u00eb e s\u00ebmundjes se mund t\u00eb provokohet nga aktivitete t\u00eb r\u00ebnda fizike dhe gjendje febrile. Kur s\u00ebmundja kthehet, shpesh shoq\u00ebrohet me t\u00eb nj\u00ebjt\u00ebn simptomatologji dhe p\u00ebr k\u00ebt\u00eb arsye duhet k\u00ebrkuar menj\u00ebher\u00eb k\u00ebshilla e mjekut. Duke vepruar k\u00ebshtu, faktor\u00ebt q\u00eb shkaktojn\u00eb s\u00ebmundjen duhet t\u00eb menjanohen dhe t\u00eb rritet marrja e l\u00ebngjeve. T\u00eb gjith\u00eb pacient\u00ebt k\u00ebshillohen t\u00eb konsumojn\u00eb nj\u00eb ushqim t\u00eb sh\u00ebndetsh\u00ebm, t\u00eb ekuilibruar me marrjen e duhur t\u00eb mineraleve dhe vitaminave. Format e r\u00ebnda infantile dhe neonatale kan\u00eb nj\u00eb prognoz\u00eb t\u00eb dob\u00ebt me nj\u00eb jet\u00ebgjat\u00ebsi e shkurt\u00ebr.<\/span><\/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>Mungesa e karnitin palmitoiltransferaz\u00ebs 2\/Carnitine palmitoyltransferase (CPTII) deficienc ICD \u041571.3 Prevalenca:&lt; 1-9\/100.000 Mungesa e karnitin palmitoiltransferaz\u00ebs 2 \u00ebsht\u00eb nj\u00eb s\u00ebmundje [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":188091,"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\/06-Carnitine-palmitoyltransferase-CPTII-deficiency-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/06-Carnitine-palmitoyltransferase-CPTII-deficiency-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"101","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: MUNGESA E KARNITIN PALMITOILTRANSFERAZ\u00cbS 2 - \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\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-mungesa-e-karnitin-palmitoiltransferazes-2\/\" \/>\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: MUNGESA E KARNITIN PALMITOILTRANSFERAZ\u00cbS 2 - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Mungesa e karnitin palmitoiltransferaz\u00ebs 2\/Carnitine palmitoyltransferase (CPTII) deficienc ICD \u041571.3 Prevalenca:&lt; 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