{"id":108047,"date":"2020-02-29T08:58:48","date_gmt":"2020-02-29T07:58:48","guid":{"rendered":"https:\/\/sdk.mk\/?p=108047"},"modified":"2020-02-29T08:58:48","modified_gmt":"2020-02-29T07:58:48","slug":"ju-njoftojme-me-semundjet-e-rralla-hiperamonemia","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-hiperamonemia\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPERAMONEMIA"},"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=I28pZG0sGqw&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=30&amp;t=1s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Hiperamonemia<\/strong><\/em><\/a><br \/>\nKNS E 72.20<br \/>\nHyperammonemia<\/p>\n<p>Hiperamonemia \u00ebsht\u00eb gjendje e metabolizmit e cila vjen si pasoj\u00eb e \u00e7rregullimit t\u00eb ciklit t\u00eb ures\u00eb dhe karakterizohet me sasi t\u00eb tep\u00ebrt t\u00eb amoniakut n\u00eb gjak. Ajo \u00ebsht\u00eb nj\u00eb gjendje k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn dhe shfaqet te pacient\u00eb t\u00eb t\u00eb gjitha moshave.<br \/>\nHiperamonemia mund t\u00eb zhvillohet menj\u00ebher\u00eb pas lindjes (fillim i hersh\u00ebm), gjat\u00eb f\u00ebmij\u00ebris\u00eb, adoleshenc\u00ebs ose te t\u00eb rriturit (fillim i vonsh\u00ebm), dhe mund t\u00eb jet\u00eb e trash\u00ebguar ose e fituar.<br \/>\nFormat e trash\u00ebguara jan\u00eb si rezultat i \u00e7rregullimeve t\u00eb lindura t\u00eb metabolizmit dhe mund t\u00eb ndahen n\u00eb hiperamonemi primare q\u00eb karakterizohen me aktivitet t\u00eb ul\u00ebt t\u00eb ciklit t\u00eb ures\u00eb ose hiperamonemi sekondare t\u00eb shkaktuara nga aktiviteti i ul\u00ebt i enzimave q\u00eb nuk jan\u00eb pjes\u00eb e ciklit t\u00eb ures\u00eb.<br \/>\nAcidemit\u00eb organike jan\u00eb nj\u00eb grup i shum\u00ebllojsh\u00ebm i \u00e7rregullimeve q\u00eb karakterizohen me ekskrecion t\u00eb acideve organike n\u00eb urin\u00eb si rezultat i mosfunksionimit t\u00eb nj\u00eb hapi specifik n\u00eb katabolizmin e aminoacideve, zakonisht si rezultat i deficitit t\u00eb aktivitetit enzimatik n\u00eb at\u00eb hap. Acidemit\u00eb organike shkaktojn\u00eb hiperamonemi sekondare dhe jan\u00eb \u00e7rregullime t\u00eb lindura t\u00eb metabolizmit dhe zakonisht trash\u00ebgohen si autosomale recisive.<\/p>\n<p>INCIDENCA<br \/>\n\u00c7rregullimet e ciklit t\u00eb ures\u00eb jan\u00eb t\u00eb rralla, me incidenc\u00eb t\u00eb p\u00ebrgjithshme 1: 35,000 t\u00eb porsalindur. N\u00eb Europ\u00eb, frekuenca e p\u00ebrgjithsme e acidemis\u00eb organike \u00ebsht\u00eb midis 1:29,000-1:65,000.<br \/>\nSi te t\u00eb gjitha \u00e7rregullimet e ciklit t\u00eb ures\u00eb, prevalenca e sakt\u00eb e acidemis\u00eb proprionike mund t\u00eb jet\u00eb m\u00eb e lart\u00eb se ajo q\u00eb \u00ebsht\u00eb e regjistruar pasi q\u00eb shum\u00eb raste vdekjesh t\u00eb t\u00eb porsalindurve mund t\u00eb jen\u00eb t\u00eb shkaktuara nga acidopati t\u00eb paregjistruara dhe gjithashtu p\u00ebr shkak se mund t\u00eb ekzistojn\u00eb forma t\u00eb lehta t\u00eb s\u00ebmundjes. Incidenca e vler\u00ebsuar e acidemis\u00eb proprionike te popullata per\u00ebndimore sillet nga 1:50,000 gjer 1:500,000 lindje t\u00eb gjalla, kurse incidenca e p\u00ebrgjithshme besohet q\u00eb \u00ebsht\u00eb ~ 1:100,000 gjer 1:150,000.<br \/>\nIncidenca e vler\u00ebsuar e acidemis\u00eb metilmalonike te popullata per\u00ebndimore sillet nga 1:48,000 gjer 1:61,000 lindje t\u00eb gjalla kurse incidenca e acidemis\u00eb izovalerike l\u00ebviz nga 1:62,500 lindje t\u00eb gjalla n\u00eb disa pjes\u00eb t\u00eb Gjermanis\u00eb gjer 1:250,000 n\u00eb SHBA.<\/p>\n<p>PATOFIZIOLOGJIA<br \/>\nNiveli i ritur i amoniakut manifestohet p\u00ebrmes shenjave dhe simptomave t\u00eb ndryshme, kryesisht \u00e7rregullime t\u00eb sistemit nervor qendror. Truri \u00ebsht\u00eb organi kryesor q\u00eb preket, dhe k\u00ebshtu shkakton mosfunksionim t\u00eb metabolizmit dhe t\u00eb neurotransmiter\u00ebve dhe si pasoj\u00eb toksicitet t\u00eb r\u00ebnd\u00eb t\u00eb trurit.<br \/>\nAmoniaku hyn n\u00eb qelizat e trurit p\u00ebrmes difuzionit dhe p\u00ebr tu menjanuar nevojitet enzima glutamin sintetaza. Niveli i ritur i amoniakut \u00e7on gjer te niveli i ritur i glutamin\u00ebs e cila shkakton permeabilitet t\u00eb zmadhuar t\u00eb membran\u00ebs, edem t\u00eb astrociteve dhe shtypje t\u00eb tensionit intrakranial.<br \/>\nAmoniaku (NH3) \u00ebsht\u00eb burim i r\u00ebnd\u00ebsish\u00ebm i azotit dhe kryesor p\u00ebr sintez\u00ebn e aminoacideve. Sidoqoft\u00eb, n\u00ebse \u00ebsht\u00eb prezent n\u00eb sasi t\u00eb larta, ai b\u00ebhet toksik.<br \/>\nSimptomat e mundshme p\u00ebrfshijn\u00eb nauze kronike, t\u00eb vjella, ataksi, konfuzion dhe nervoziz\u00ebm kurse n\u00eb gj\u00ebndje akute mund t\u00eb \u00e7ojn\u00eb n\u00eb gjendje kome.<br \/>\nShenat klinike dhe simptomat e hiperamonemis\u00eb jan\u00eb jospecifike por shumica jan\u00eb neurologjike. Duhet t\u00eb dyshohet q\u00eb b\u00ebhet fjal\u00eb p\u00ebr hiperamonemi dhe t\u00eb b\u00ebhen testet sa m\u00eb shpejt te t\u00eb porsalindurit me distres klinik dhe seps\u00eb suspekte, dhe te t\u00eb gjith\u00eb pacient\u00ebt me humbje t\u00eb paqart\u00eb t\u00eb vet\u00ebdijes ose encefalopati, pasi q\u00eb \u00e7do vones\u00eb n\u00eb trajtim mund t\u00eb ket\u00eb pasoja t\u00eb r\u00ebnda p\u00ebr pacientin.<br \/>\nPacient\u00ebt zakonisht zhvillojn\u00eb dehidrim, letargji, tahipne dhe hipotoni. P\u00ebr diagnoz\u00ebn p\u00ebrfundimtare nevojiten teste laboratorike dhe in\u00e7izime. Ekzaminimi her\u00eb pas her\u00eb zbulon tipare t\u00eb pazakonta si\u00e7 \u00ebsht\u00eb era e \u201ck\u00ebmb\u00ebve t\u00eb djersitura\u201d te acidemia izovalerike.<\/p>\n<p>TRAJTIMI<br \/>\nQ\u00eb hiperamonemia akute t\u00eb ket\u00eb prognoz\u00eb m\u00eb t\u00eb mir\u00eb, \u00ebsht\u00eb e nevojshme q\u00eb me koh\u00eb t\u00eb aplikohen strategji t\u00eb caktuara, kurse q\u00ebllimi primar i terapis\u00eb \u00ebsht\u00eb q\u00eb t\u00eb korigjohen \u00e7rregullimet biokimike.<br \/>\nHapi i par\u00eb i menaxhimit me s\u00ebmundjen \u00ebsht\u00eb q\u00eb t\u00eb nd\u00ebrpritet marrja e proteinave dhe n\u00eb nd\u00ebrkoh\u00eb t\u00eb jepen kalori jo &#8211; proteine n\u00eb m\u00ebnyr\u00eb intravenoze, orale ose n\u00eb t\u00eb dy m\u00ebnyrat n\u00eb qoft\u00eb se \u00ebsht\u00eb e mundshme. Dh\u00ebnja e terapis\u00eb m\u00eb specifike varet nga etiologjia e k\u00ebtij \u00e7rregullimi.<\/p>\n<p>PARANDALIMI<br \/>\nHiperamonemia si s\u00ebmundje trash\u00ebguese gjenetike nuk mund t\u00eb prevenohet. Sidoqoft\u00eb, pasojat e \u00e7rregullimit enzimatik mund t\u00eb modifikohen me intervenim t\u00eb hersh\u00ebm, dmth me diagnostikim t\u00eb hersh\u00ebm (antenatal, postnatal) dhe trajtim adekuat.<br \/>\nPrind\u00ebrit duhet t\u00eb edukohen p\u00ebr simptomat e hiperamonemis\u00eb (si letargjia, t\u00eb vjella, ndryshime n\u00eb sjellje) si edhe p\u00ebr r\u00ebnd\u00ebsin\u00eb e trajtimit t\u00eb shpejt\u00eb dhe parandalimin e shkaqeve p\u00ebr mosfunksionim metabolik (infeksionet).<br \/>\nTe f\u00ebmij\u00ebt me hiperamonemi t\u00eb lindura nuk \u00ebsht\u00eb i nevojsh\u00ebm kufizim i aktivitetit fizik, por duhet t\u00eb marrin sasi t\u00eb mjaftueshme t\u00eb kalorive q\u00eb t\u00eb mos vij\u00eb gjer te katabolizmi i proteinave,<\/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>Hiperamonemia KNS E 72.20 Hyperammonemia Hiperamonemia \u00ebsht\u00eb gjendje e metabolizmit e cila vjen si pasoj\u00eb e \u00e7rregullimit t\u00eb ciklit t\u00eb [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":108045,"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\/29-Hyperammonemia-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/29-Hyperammonemia-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"2065","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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