{"id":138499,"date":"2021-02-07T09:24:24","date_gmt":"2021-02-07T08:24:24","guid":{"rendered":"https:\/\/sdk.mk\/?p=138499"},"modified":"2021-02-07T09:24:24","modified_gmt":"2021-02-07T08:24:24","slug":"ju-njoftojme-me-semundjet-e-rralla-acidemia-glutarike-tip-1","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-acidemia-glutarike-tip-1\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: ACIDEMIA GLUTARIKE TIP 1"},"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=KOh5V5incWA&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=7\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Glutaric acidemia type 1 &#8211; Acidemia glutarike tip 1<\/strong><\/em><\/a><br \/>\nICD E72.3<br \/>\nPrevalenca: e panjohur<\/p>\n<p>Acidemia glutarike tip 1 \u00ebsht\u00eb \u00e7rregullim neurometabolik si pasoj\u00eb e munges\u00ebs apo e mosfunksionimit t\u00eb enzim\u00ebs glutaril koenzim A dehidrogjenaza. Mungesa e k\u00ebsaj enzyme shkakton d\u00ebmtim t\u00eb ganglioneve bazale n\u00eb tru t\u00eb cilat kontrollojn\u00eb l\u00ebvizjen e t\u00ebr\u00eb trupit.<\/p>\n<p>Prevalenca n\u00eb nivel bot\u00ebror vler\u00ebsohet n\u00eb 1 rast n\u00eb 100.000 lindje. AG1 haset m\u00eb shpesh n\u00eb komunitetin e vjet\u00ebr t\u00eb Amish\u00ebve. Neonat\u00ebt n\u00eb p\u00ebrgjith\u00ebsi nuk tregojn\u00eb shenja t\u00eb s\u00ebmundjes, edhe pse te 75% e f\u00ebmij\u00ebve makrocefalia (rritja e perimetrit t\u00eb kok\u00ebs) \u00ebsht\u00eb prezente qysh n\u00eb lindje, gjithashtu shfaqet hipotonia dhe iritabiliteti.<\/p>\n<p>Kur neonati i mbush 5 dit\u00eb mund t\u00eb b\u00ebhet analiza e gjakut q\u00eb t\u00eb caktohet diagnoza AG1. Gjaku, disa pika, merret nga thembra e foshnj\u00ebs.<\/p>\n<p>N\u00ebse s\u00ebmundja nuk zbulohet herr\u00ebt, kriza akute encefalopatike shfaqet mes 3 dhe 36 muaj, zakonisht e shkaktuar nga temperatura dhe infeksionet, vaksinimi ose operacioni dhe manifestohet me hipotoni, humbjen e aft\u00ebsive motorike dhe konvulsione dhe m\u00eb tutje me d\u00ebmtim dyan\u00ebsh t\u00eb ganglioneve bazale gj\u00eb q\u00eb shoq\u00ebrohet me shtangim dhe l\u00ebvizje e pakontrolluar e muskujve t\u00eb t\u00ebr\u00eb trupit.<\/p>\n<p>Shenjat e kriz\u00ebs metabolike jan\u00eb:<br \/>\nRrefuzim t\u00eb ushqimit ose humbje oreksi<br \/>\nMunges\u00eb energjie<br \/>\nL\u00ebvizje abnormale<br \/>\nVjellje<br \/>\nIritabilitet<br \/>\nFrym\u00ebmarje e v\u00ebshtir\u00ebsuar<br \/>\n\u00cbsht\u00eb shum\u00eb e r\u00ebnd\u00ebsishme q\u00eb kur foshnja zhvillon shenja t\u00eb kriz\u00ebs metabolike menj\u00ebher\u00eb ti jepet ndihma mjek\u00ebsore. Mjeku q\u00eb e ndjek s\u00ebmundjen k\u00ebshillon si t\u00eb njihen herr\u00ebt shenjat e kriz\u00ebs.<br \/>\nTrajtimi i acidemis\u00eb glutarike tip 1:<br \/>\nUshqimi<br \/>\nF\u00ebmij\u00ebt q\u00eb diagnostikohen me AG1 udh\u00ebzohen te dietisti i cili i cakton diet\u00eb t\u00eb varfur me proteina. Kjo b\u00ebhet me q\u00ebllim q\u00eb t\u00eb ulet sasia e aminoacideve q\u00eb konsumon f\u00ebmija, sidomos lisina dhe triptofani.<br \/>\nUshqimi q\u00eb p\u00ebrmban shum\u00eb proteina duhet t\u00eb kufizohet, si: mishi, peshku, djathi, vez\u00ebt, arrat, bishtajat.<br \/>\nDietisti do t\u00eb ofroj\u00eb k\u00ebshilla t\u00eb detajuara, pasi q\u00eb foshnj\u00ebs akoma i nevojiten disa nga k\u00ebto produkte p\u00ebr rritje dhe zhvillim t\u00eb sh\u00ebndetsh\u00ebm.<br \/>\nDh\u00ebnja gji dhe qum\u00ebshti i n\u00ebn\u00ebs gjithashtu duhet t\u00eb ndiqen dhe t\u00eb maten, me k\u00ebshilla nga dietisti. Formulat e qum\u00ebshtit p\u00ebr foshnje p\u00ebrmbajn\u00eb aminoacide t\u00eb cilat duhet t\u00eb kufizohen, prandaj n\u00eb vend t\u00eb formulave standarde f\u00ebmij\u00ebs i jepen formula speciale. Ajo i p\u00ebrmban t\u00eb gjitha vitaminat, mineralet dhe aminoacidet tjera q\u00eb i nevojiten foshnj\u00ebs.<br \/>\nN\u00ebse ky \u00e7rregullim zbulohet me koh\u00eb, te f\u00ebmij\u00ebt n\u00ebn 6 vje\u00e7, me trajtim adekuat, rreziku p\u00ebr kriz\u00eb encefalopatike \u00ebsht\u00eb m\u00eb i vog\u00ebl. Tek disa pacient\u00eb, hipotonia dhe distonia zhvillohen gradualisht edhe pa kriza encefalopatike.<\/p>\n<p>(radio jingle I njohim s\u00ebmundjet e rralla)<\/p>\n<p>Testimi antenatal mund t\u00eb b\u00ebhet me analiz\u00eb gjentike dhe enzimatike nga biopsia e vileve koriale ose duke e matur nivelin e acidit glutarik n\u00eb l\u00ebngun amniotik te familjet me rrezik t\u00eb madh p\u00ebr k\u00ebt\u00eb s\u00ebmundje. S\u00ebmundja trash\u00ebgohet n\u00eb form\u00eb autosomale recesive, prandaj rekomandohet keshillim gjenetik dhe testim gjenetik.<\/p>\n<p>Terapia e p\u00ebrditshme p\u00ebrfshin diet\u00eb me konsumim t\u00eb nj\u00eb p\u00ebrqindje t\u00eb ul\u00ebt t\u00eb proteinave. Si suplement n\u00eb ushqim p\u00ebrdoret karnitina, kurse n\u00eb situata akute t\u00eb shkaktuara nga infeksionet aplikohet nj\u00eb protokol i posa\u00e7\u00ebm te i cili m\u00eb me r\u00ebnd\u00ebsi \u00ebsht\u00eb rritja e konsumimit t\u00eb kalorive, t\u00eb nd\u00ebrpritet konsumimi i proteinave natyrore p\u00ebr 24 gjer 48 or\u00eb. Gjat\u00eb k\u00ebtyre krizave suplementimi me L- karnitin\u00eb dyfishohet dhe me kujdes ndiqet bilanci i glukoz\u00ebs, elektroliteve, ureas dhe l\u00ebngjeve n\u00eb organiz\u00ebm, si dhe gj\u00ebndja e m\u00eblqis\u00eb nga ana e nj\u00eb ekipi t\u00eb kualifikuar.<\/p>\n<p>Duke iu p\u00ebrmbajtur rekomandimeve t\u00eb protokoleve n\u00eb raste urgjente parandalohet d\u00ebmtimi i neuroneve dhe distonia sekondare tek f\u00ebmij\u00ebt q\u00eb akoma nuk kan\u00eb kaluar nj\u00eb kriz\u00eb encefalopatike.<\/p>\n<p>N\u00eb qoft\u00eb se dieta p\u00ebrcakothet dhe aplikohet me koh\u00eb dhe rrespektohet protokoli n\u00eb gj\u00ebndje akute nga lindja e f\u00ebmij\u00ebs gjer n\u00eb mosh\u00ebn 6 vje\u00e7are f\u00ebmij\u00ebt zhvillohen pa d\u00ebmtime neurologjike.<\/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>Glutaric acidemia type 1 &#8211; Acidemia glutarike tip 1 ICD E72.3 Prevalenca: e panjohur Acidemia glutarike tip 1 \u00ebsht\u00eb \u00e7rregullim [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138496,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_mo_disable_npp":"no","inline_featured_image":false,"footnotes":""},"categories":[1794],"tags":[],"class_list":["post-138499","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sq"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - 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