{"id":107978,"date":"2020-02-28T08:27:09","date_gmt":"2020-02-28T07:27:09","guid":{"rendered":"https:\/\/sdk.mk\/?p=107978"},"modified":"2020-02-28T08:27:09","modified_gmt":"2020-02-28T07:27:09","slug":"ju-njoftojme-me-semundjet-e-rralla-homocistinuria","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-homocistinuria\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HOMOCISTINURIA"},"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=qBLJpk9mg70&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=29&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Homocistinuria<\/strong><\/em><\/a><br \/>\nKNS E 72.11<br \/>\nHomocystinuria<\/p>\n<p>Homocistinuria \u00ebsht\u00eb nj\u00eb grup s\u00ebmundjesh t\u00eb trash\u00ebguara autosomale recisive q\u00eb \u00e7ojn\u00eb gjer n\u00eb grumbullimin jonormal t\u00eb homocistein\u00ebs dhe metaboliteve t\u00eb saj n\u00eb gjak dhe n\u00eb urin\u00eb.<br \/>\n\u00c7rregullimet gjenetike rezultojn\u00eb me \u00e7rregullime enzimash q\u00eb jan\u00eb t\u00eb p\u00ebrfshira n\u00eb proceset e caktuara t\u00eb homocistein\u00ebs.<br \/>\n\u00c7rregullimi i nj\u00ebrit nga ata procese \u00ebsht\u00eb p\u00ebr shkak t\u00eb deficitit t\u00eb cistation beta &#8211; sintetaz\u00ebs e cila me kofaktorin e saj, vitamin\u00ebn B6 (piridoksin\u00ebn), e konverton homocistein\u00ebn n\u00eb cistationin.<br \/>\nINCIDENCA<br \/>\nPrevalenca e mutacioneve q\u00eb shkaktojn\u00eb homocistinuri, n\u00eb Norvegji paraqet 1 rast n\u00eb 6400 lindje t\u00eb gjalla. Programet e skriningut gjithashtu zbulojn\u00eb m\u00eb shum\u00eb raste t\u00eb \u00e7rregullimit t\u00eb rimetilimit: n\u00eb SHBA frekuenca e homocistinuris\u00eb p\u00ebr shkak t\u00eb \u00e7rregullimit t\u00eb cbl-C \u00ebsht\u00eb 1 rast n\u00eb 100,000 lindje t\u00eb gjalla.<\/p>\n<p>PASQYRA KLINIKE<br \/>\nKjo s\u00ebmundje ka efekte t\u00eb ndryshme t\u00eb d\u00ebmshme n\u00eb shum\u00eb organe dhe sisteme organike. Pacient\u00ebt e padiagnostikuar dhe\/ose t\u00eb patrajtuar kan\u00eb prognoz\u00eb shum\u00eb t\u00eb keqe me \u00e7rregullime t\u00eb r\u00ebnda. Edhe pse \u00e7rregullimet e enzimave jan\u00eb t\u00eb pranishme gjat\u00eb lindjes, simptomat dhe shenjat e s\u00ebmundjes mund t\u00eb zhvillohen m\u00eb von\u00eb n\u00eb foshnj\u00ebri, n\u00eb periudh\u00ebn e f\u00ebmij\u00ebris\u00eb madje edhe tek t\u00eb rriturit.<br \/>\nMund t\u00eb shfaqet osteoporoza, \u00e7rregullime vaskulare, fenotip marfanoid, ndryshime t\u00eb syve, ngecje kognitive, \u00e7rregullime tjera neurologjike.<br \/>\nFakti q\u00eb shumica e simptomave dhe shenjave t\u00eb s\u00ebmundjes jan\u00eb jospecifike, diagnostikimi mund t\u00eb b\u00ebhet shum\u00eb me vones\u00eb.<br \/>\nShenjat klinike p\u00ebr \u00e7rregullimin e rimetilimit jan\u00eb kryesisht neurologjike dhe\/ose psikiatrike dhe zakonisht shfaqen n\u00eb jav\u00ebt ose muajt e par\u00eb t\u00eb jet\u00ebs, duke e rrezikuar jet\u00ebn e pacientit.<\/p>\n<p>KUR T\u00cb DYSHOJM\u00cb SE B\u00cbHET FJAL\u00cb P\u00cbR HOMOCISTINURI<br \/>\nTe fetus\u00ebt ose intrauterin n\u00ebse kan\u00eb:<br \/>\nNgecje t\u00eb rritjes dhe zhvillimit intrauterin<br \/>\nTipare dismorfike karakteristike<br \/>\nS\u00ebmundje t\u00eb lindura t\u00eb zemr\u00ebs<br \/>\nKardiomiopatia e dilatuar e fetusit<br \/>\nTe t\u00eb porsalindurit me:<br \/>\npancitopeni,<br \/>\nanemi megaloblastike dhe<br \/>\nsimptoma neurologjike (nistagmus, hidrocefalus, sulme konvulsive, ngecje n\u00eb zhvillim)<br \/>\nTe f\u00ebmij\u00ebt:<br \/>\n&#8211; trombemboli,<br \/>\n&#8211; tipare marfanoide dhe<br \/>\n&#8211; simptoma neurologjike (ataksi cerebelare, tetraparez\u00eb spastike, pik\u00eb n\u00eb tru, nistagmus, kriza konvulsive, neuropati periferike).<br \/>\nIdentifikimi i hersh\u00ebm dhe trajtimi n\u00eb koh\u00eb jan\u00eb thelb\u00ebsor\u00eb p\u00ebr t\u00eb siguruar rezultatin m\u00eb t\u00eb mir\u00eb t\u00eb mundsh\u00ebm. N\u00ebse ka dyshim q\u00eb b\u00ebhet fjal\u00eb p\u00ebr homocistinuri, pacienti duhet menj\u00ebher\u00eb t\u00eb d\u00ebrgohet n\u00eb qend\u00ebr t\u00eb kujdesit terciar ku punojn\u00eb profesionist\u00eb adekuat q\u00eb kan\u00eb njohuri p\u00ebr \u00e7rregullimet metabolike.<\/p>\n<p>DIAGNOSTIKIMI<br \/>\nN\u00ebse pacient\u00ebt kan\u00eb simptoma dhe shenja t\u00eb s\u00ebmundjes, menj\u00ebher\u00eb duhet t\u00eb b\u00ebhen ekzaminime plot\u00ebsuese, si\u00e7 jan\u00eb testet biokimike (aminoacidet n\u00eb plazm\u00eb: homocisteina totale, metionina, acidi urinar organik: acidi metilmalon).<br \/>\nTestet fillestare biokimike duhet t\u00eb shoq\u00ebrohen me teste konfirmuese si teste enzimatike direkte, diagnoza molekulare e mutacioneve gjenetike dhe analiz\u00eb komplementare. Gjithashtu, duhet t\u00eb b\u00ebhen teste edhe te vellez\u00ebrit dhe motrat e personit me homocistinuri.<\/p>\n<p>TRAJTIMI<br \/>\nHomocistinuria \u00ebsht\u00eb nj\u00eb gjendje e trajtueshme. Diagnostikimi i hersh\u00ebm, trajtimi dhe restrikcionet dietetike ka t\u00eb ngjar\u00eb q\u00eb do ta ngadal\u00ebsojn\u00eb progresionin e homocistinuris\u00eb si dhe zhdukjen e disa prej tipareve dhe simptomave.<br \/>\nQ\u00ebllimi i terapis\u00eb \u00ebsht\u00eb t\u00eb zvog\u00eblohet grumbullimi i homocistein\u00ebs dhe, p\u00ebr \u00e7rregullimin e rimetilimit, t\u00eb kalohet ai difekt i rimetilimit dhe me k\u00ebt\u00eb t\u00eb ruhen p\u00ebrq\u00ebndrimet normale t\u00eb metionin\u00ebs dhe t\u00eb folateve.<br \/>\nDiet\u00eb me konsumim t\u00eb kufizuar t\u00eb metionin\u00ebs dhe t\u00eb cistin\u00ebs si suplemente (metionina mund t\u00eb gjendet n\u00eb vez\u00eb, mish, peshk, fara t\u00eb susamit, arra braziliane dhe fara t\u00eb tjera bimore dhe drith\u00ebra).<br \/>\nSuplemente t\u00eb vitaminave (Vitamin B6, B9, B12)<br \/>\nCystadane \u00ebsht\u00eb betaina e vetme (aminoacid i modifikuar i cili p\u00ebrmban gilicin\u00eb) q\u00eb \u00ebsht\u00eb aprovuar p\u00ebr trajtimin e homocistinuris\u00eb. \u00cbsht\u00eb v\u00ebrtetuar q\u00eb ky preparat i ul edhe m\u00eb tej p\u00ebrq\u00ebndrimet e homocistein\u00ebs kur i bashkangjitet terapis\u00eb me vitamina dhe\/ose diet\u00ebs me konsumim t\u00eb kufizuar t\u00eb metionin\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>Homocistinuria KNS E 72.11 Homocystinuria Homocistinuria \u00ebsht\u00eb nj\u00eb grup s\u00ebmundjesh t\u00eb trash\u00ebguara autosomale recisive q\u00eb \u00e7ojn\u00eb gjer n\u00eb grumbullimin jonormal [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":107976,"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\/28-Homocystinuria-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/28-Homocystinuria-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"1234","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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