{"id":188408,"date":"2023-02-09T09:06:36","date_gmt":"2023-02-09T08:06:36","guid":{"rendered":"https:\/\/sdk.mk\/?p=188408"},"modified":"2023-02-09T09:06:36","modified_gmt":"2023-02-09T08:06:36","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-canavan","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-semundja-canavan\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA CANAVAN"},"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=sR6JPt44hW8&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=9\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>S\u00ebmundja Canavan<\/strong><\/em><\/a><br \/>\nICD E 75.2<br \/>\nprevalenca: e panjohur<\/p>\n<p>S\u00ebmundja Canavan u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb vitin 1931 nga patologe dhe studiuese amerikane Dr. Mirtel Canavan. N\u00eb punimin e saj, p\u00ebrshkroi rastin e nj\u00eb f\u00ebmije q\u00eb vdiq n\u00eb mosh\u00ebn 16 muajshe, truri i t\u00eb cilit kishte nj\u00eb pjes\u00eb sfungjerosur. Dr. Kanavan ishte e para q\u00eb identifikoi k\u00ebt\u00eb \u00e7rregullim degjenerues t\u00eb sistemit nervor qendror, q\u00eb m\u00eb von\u00eb u em\u00ebrua p\u00ebr nder t\u00eb saj. S\u00ebmundja Canavan \u00ebsht\u00eb \u00e7rregullimi m\u00eb i shpesht\u00eb degjenerativ neurologjik n\u00eb f\u00ebmij\u00ebri. P\u00ebrfaq\u00ebson nj\u00eb s\u00ebmundje nga nj\u00eb grup \u00e7rregullimesh gjenetike t\u00eb quajtura leukodistrofi, e cila \u00e7on n\u00eb defekte n\u00eb mb\u00ebshtjell\u00ebsin e mielin\u00ebs q\u00eb mbulon qelizat nervore n\u00eb tru. N\u00eb s\u00ebmundjen Canavan, nj\u00eb mutacion gjenetik n\u00eb kromozomin 17 shkakton nj\u00eb munges\u00eb n\u00eb nj\u00eb enzim\u00eb t\u00eb quajtur aspartoacilaz\u00eb. Pa k\u00ebt\u00eb enzim\u00eb, ndodh nj\u00eb \u00e7ekuilib\u00ebr kimik q\u00eb shkakton shkat\u00ebrrimin e mielin\u00ebs n\u00eb tru. Kjo b\u00ebn q\u00eb indi i sh\u00ebndetsh\u00ebm i trurit t\u00eb degjenerohet n\u00eb ind sfungjer I cii e ka hap\u00ebsir\u00ebn mikroskopike t\u00eb mbushur me l\u00ebng.B\u00ebhet fjal\u00eb p\u00ebr ndryshime serioze gjenetike, shpesh fatale, duke shkaktuar p\u00ebrkeq\u00ebsim t\u00eb mielin\u00ebs, nj\u00eb substanc\u00eb q\u00eb rrethon aksonet e neuroneve p\u00ebr t\u00eb leht\u00ebsuar transmetimin e impulseve nervore n\u00eb m\u00ebnyr\u00eb q\u00eb ato t\u00eb mos p\u00ebrhapen si\u00e7 duhet. Ekzistojn\u00eb dy variante t\u00eb s\u00ebmundjes Canavan: neonatale\/infantile dhe ajo e mitur.E para p\u00ebrfshin simptoma m\u00eb t\u00eb r\u00ebnda dhe zbulohet her\u00ebt,nd\u00ebrsa varianti i t\u00eb miturve konsiderohet variant i leht\u00eb n\u00eb t\u00eb cilat mund t\u00eb ndodhin vet\u00ebm vonesa t\u00eb moderuara n\u00eb zhvillimin motorik dhe verbal dhe t\u00eb ken\u00eb nj\u00eb prognoz\u00eb m\u00eb t\u00eb mir\u00eb. Shum\u00eb f\u00ebmij\u00eb me s\u00ebmundje t\u00eb r\u00ebnd\u00eb Cananova vdesin para dit\u00eblindjes s\u00eb tyre t\u00eb 10-t\u00eb, nd\u00ebrsa t\u00eb tjer\u00eb arrijn\u00eb nj\u00eb jet\u00ebgjat\u00ebsi prej rreth 20 vjet\u00ebsh. S\u00ebmundja Canavan trash\u00ebgohet n\u00eb nj\u00eb form\u00eb autosomale recesive, q\u00eb do t\u00eb thot\u00eb se f\u00ebmija duhet t\u00eb trash\u00ebgoj\u00eb nj\u00eb kopje t\u00eb gjenit t\u00eb mutuar nga secili prind p\u00ebr t\u00eb zhvilluar s\u00ebmundjen. Megjith\u00ebse s\u00ebmundja Cananova mund t\u00eb ndodh\u00eb n\u00eb \u00e7do grup etnik, ajo \u00ebsht\u00eb m\u00eb e zakonshme tek hebrenjt\u00eb (Ashkenazi) nga Polonia, Lituania dhe Rusia per\u00ebndimore, si dhe tek arab\u00ebt n\u00eb Arabin\u00eb Saudite.<\/p>\n<p><em><strong>Simptomat:<\/strong><\/em><br \/>\nSimptomat dhe shenjat jan\u00eb t\u00eb ndryshueshme dhe varen nga rast pas rasti. F\u00ebmij\u00ebt e s\u00ebmur\u00eb mund t\u00eb duken normal\u00eb n\u00eb lindje dhe zakonisht i zhvillojn\u00eb simptomat e para midis mosh\u00ebs 3-6 muajshe. Simptomat mund t\u00eb p\u00ebrfshijn\u00eb: makrocefalin\u00eb (rritje e perimetrit dhe madh\u00ebsis\u00eb s\u00eb kok\u00ebs n\u00eb krahasim me f\u00ebmij\u00ebt e s\u00eb nj\u00ebjt\u00ebs mosh\u00eb dhe gjini), r\u00ebnia e kok\u00ebs, zvog\u00eblimi i ndjesh\u00ebm i tonit t\u00eb muskujve, vonesa dhe ndryshime zhvillimore n\u00eb zhvillimin motorik t\u00eb f\u00ebmij\u00ebs. P\u00ebrve\u00e7 k\u00ebsaj, mund t\u00eb jen\u00eb t\u00eb pranish\u00ebm regresioni psikomotor, vonesa mendore, letargji dhe nervoziz\u00ebm. Shumica e f\u00ebmij\u00ebve m\u00ebsojn\u00eb t\u00eb qeshin, t\u00eb ngren\u00eb kok\u00ebn dhe t\u00eb arrijn\u00eb nd\u00ebrveprimi social. Manifestimet klinike shtes\u00eb t\u00eb cilat mund t\u00eb jen\u00eb t\u00eb pranishme jan\u00eb kriza konvulsive, \u00e7rregullime t\u00eb gjumit, \u00e7rregullime t\u00eb g\u00eblltitjes, rrjedhje e hund\u00ebs, refluksi gastroezofageal i cili ndonj\u00ebher\u00eb mund t\u00eb shoq\u00ebrohet me t\u00eb vjella si dhe p\u00ebrfshirje t\u00eb nervit optik me d\u00ebmtim t\u00eb mundsh\u00ebm t\u00eb shikimit. N\u00eb shumic\u00ebn e rasteve d\u00ebgjimi ruhet, por nuk p\u00ebrjashtohet mund\u00ebsia e humbjes s\u00eb d\u00ebgjimit. F\u00ebmij\u00ebt me format m\u00eb t\u00eb r\u00ebnda zhvillojn\u00eb edhe komplikime k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn, m\u00eb s\u00eb shpeshti n\u00eb mosh\u00ebn 10-vje\u00e7are, por mund t\u00eb ndodhin n\u00eb vitet e m\u00ebvonshme. Me kalimin e mosh\u00ebs, hipotensioni muskulor mund t\u00eb kthehet n\u00eb spasticitet, nj\u00eb gjendje e karakterizuar nga ng\u00ebr\u00e7e t\u00eb pavullnetshme t\u00eb muskujve, ngurt\u00ebsi n\u00eb k\u00ebmb\u00eb dhe ndonj\u00ebher\u00eb l\u00ebvizje t\u00eb pakontrolluara t\u00eb gjymtyr\u00ebve.<\/p>\n<p><em><strong>Diagnoza:<\/strong><\/em><br \/>\nP\u00ebr k\u00ebt\u00eb s\u00ebmundje mjek\u00ebt duhet t\u00eb dyshojn\u00eb n\u00eb baz\u00eb t\u00eb pasqyr\u00ebs klinike. Diagnoza mund t\u00eb konfirmohet me anamnez\u00eb t\u00eb detajuar dhe analiza t\u00eb ndryshme, si p.sh spektrometria e mas\u00ebs dhe kromatografia me gaz.. Nivelet e ngritura t\u00eb acidit H-acetilsapartik mund t\u00eb jen\u00eb t\u00eb pranishme n\u00eb urin\u00eb, l\u00ebngun cerebrospinal dhe gjak. Tomografia e kompjuterizuar (CT) ose rezonanca magnetike (MRI) e trurit tregon degjenerim t\u00eb indit t\u00eb trurit. Testet e gjakut mund t\u00eb b\u00ebhen p\u00ebr t\u00eb zbuluar nj\u00eb mang\u00ebsi n\u00eb enzim\u00ebn aspartoacilaz\u00eb ose p\u00ebr t\u00eb k\u00ebrkuar nj\u00eb mutacion gjenetik q\u00eb shkakton s\u00ebmundjen. Diagnoza prenatale e k\u00ebsaj s\u00ebmundjeje mund t\u00eb b\u00ebhet me amniocentez\u00eb midis jav\u00ebs s\u00eb 16 dhe 18 t\u00eb shtatz\u00ebnis\u00eb, duke matur nivelin e acidit H-acetilapartik n\u00eb l\u00ebngun amniotik.N\u00ebse t\u00eb dy prind\u00ebrit kan\u00eb mutacione n\u00eb gjenin ASPA, k\u00ebshillohet q\u00eb t\u00eb merret nj\u00eb most\u00ebr e vileve korionike p\u00ebr analiz\u00eb midis 10 dhe 12 jav\u00ebsh.<\/p>\n<p><em><strong>Mjekimi:<\/strong><\/em><br \/>\nTerapia \u00ebsht\u00eb simptomatike. Konvulsionet mund t\u00eb nd\u00ebrpriten me terapi antikonvulsante. V\u00ebshtir\u00ebsia n\u00eb g\u00eblltitje mund t\u00eb jet\u00eb shum\u00eb problematike; n\u00eb disa raste \u00ebsht\u00eb e nevojshme aplikimi i tubave t\u00eb ushqyerjes dhe hidratimit p\u00ebr t\u00eb siguruar mbijetes\u00ebn e pacientit. Terapia fizike \u00ebsht\u00eb shum\u00eb e dobishme p\u00ebr p\u00ebrmir\u00ebsimin e aft\u00ebsive motorike dhe posturale. Gjithashtu mund t\u00eb leht\u00ebsoj\u00eb kontrakturat, t\u00eb cilat jan\u00eb shum\u00eb t\u00eb zakonshme p\u00ebr shkak t\u00eb ndryshimeve n\u00eb tonin e muskujve. Nj\u00eb form\u00eb tjet\u00ebr e terapis\u00eb q\u00eb po eksplorohet \u00ebsht\u00eb terapia gjenetike. Kjo terapi bazohet n\u00eb futjen e formave t\u00eb sh\u00ebndetshme t\u00eb gjenit ASPA n\u00eb indin e trurit t\u00eb f\u00ebmij\u00ebve t\u00eb infektuar. K\u00ebto gjene prodhojn\u00eb aspartoacilaz\u00eb, e cila \u00ebsht\u00eb e nevojshme p\u00ebr metabolizmin e acidit H-acetilapartik dhe n\u00eb k\u00ebt\u00eb m\u00ebnyr\u00eb parandalon akumulimin e tij.F\u00ebmij\u00ebt q\u00eb i n\u00ebnshtrohen terapis\u00eb gjenetike kan\u00eb treguar disa p\u00ebrmir\u00ebsime. Megjithat\u00eb, nevojiten m\u00eb shum\u00eb k\u00ebrkime p\u00ebr t\u00eb perceptuar n\u00ebse kjo terapi ka efekte afatgjata dhe an\u00ebsore.<\/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 Canavan ICD E 75.2 prevalenca: e panjohur S\u00ebmundja Canavan u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb vitin 1931 nga [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":188409,"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\/09-Canavan-disease-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/09-Canavan-disease-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"55","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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