{"id":138946,"date":"2021-02-12T08:46:48","date_gmt":"2021-02-12T07:46:48","guid":{"rendered":"https:\/\/sdk.mk\/?p=138946"},"modified":"2021-02-12T08:46:48","modified_gmt":"2021-02-12T07:46:48","slug":"ju-njoftojme-me-semundjet-e-rralla-neurofribromatoza-tip-1","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-neurofribromatoza-tip-1\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: NEUROFRIBROMATOZA 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=-3sUqMJsn1U&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=12\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Neurofibromatosis type 1 (NF1) &#8211; Neurofribromatoza Tip 1<\/strong><\/em><\/a><br \/>\nICD Q85.0<br \/>\nPrevalenca: 1-5\/10.000<\/p>\n<p>Neurofibromatoza \u00ebsht\u00eb \u00e7rregullim gjenetik i cili e \u00e7rregullon rritjen e qelizave, duke shkaktuar formimin e nurofibromeve q\u00eb jan\u00eb struktura t\u00eb buta nga indi nervor abnormal. Neurofibromet shfaqen n\u00eb l\u00ebkur\u00eb dhe n\u00eb pjes\u00eb t\u00eb tjera t\u00eb trupit (tru, palc\u00eb kurrizore, nerva periferik\u00eb). Kjo s\u00ebmundje zakonisht diagnostikohet n\u00eb f\u00ebmij\u00ebri ose n\u00eb mosh\u00eb t\u00eb re. S\u00ebmundja \u00ebsht\u00eb e shkaktuar nga mutacioni q\u00eb prindi ia bart f\u00ebmij\u00ebs ose mutacioni shfaqet nga e para.<br \/>\nNeurofibromatoza tip 1:<br \/>\nNeurofibromatoza tip 1 (NF1) \u00ebsht\u00eb s\u00ebmundje neurokutane heterogjene e cila karakterizohet me njolla ngjyre kafe e hapur n\u00eb l\u00ebkur\u00eb, glioma optike, pikla n\u00eb sqetulla dhe ije dhe neurofibroma t\u00eb shumta.<br \/>\nIncidenca e s\u00ebmundjes \u00ebsht\u00eb 1:3000. Haset nj\u00eblloj te t\u00eb dyja gjinit\u00eb.<br \/>\nShkaku:<br \/>\nGjeni p\u00ebr NF1 \u00ebsht\u00eb i vendosur n\u00eb kromozom\u00ebn e 17-t\u00eb. N\u00eb situat\u00eb normale ky gjen prodhon nj\u00eb protein\u00eb t\u00eb quajtur neurofibromin\u00eb, e cila gjendet n\u00eb sasi t\u00eb bollshme n\u00eb sistemin nervor dhe ka rol n\u00eb kontrollin e rritjes s\u00eb qelizave.<br \/>\nMutacioni i k\u00ebtij gjeni NF1 shkakton humbjen e neurofibromin\u00ebs, dhe si pasoj\u00eb qelizat rriten n\u00eb m\u00ebnyr\u00eb t\u00eb pakontrolluar.<br \/>\nPasqyra klinike:<br \/>\nNeurofibromatota tip 1 zakonisht shfaqet n\u00eb f\u00ebmij\u00ebri. Shenjat dhe simptomat e s\u00ebmundjes jan\u00eb:<br \/>\nNjolla ngjyr\u00eb kafe hapur n\u00eb l\u00ebkur\u00eb- njihen edhe si njolla t\u00eb kafes\u00eb me qum\u00ebsht. N\u00ebse shfaqen m\u00eb shum\u00eb se gjasht\u00eb njolla n\u00eb trup \u00ebsht\u00eb nj\u00ebra nga shenjat e para t\u00eb neurofibromatoz\u00ebs. K\u00ebta njolla zakonisht jan\u00eb prezente qysh n\u00eb lindje ose manifestohen gjat\u00eb viteve t\u00eb para t\u00eb jet\u00ebs.<br \/>\nPikla n\u00eb sqetulla dhe ije \u2013 zakonisht shfaqen n\u00eb mosh\u00ebn 4 ose 5 vje\u00e7.<br \/>\nNeurofibromat \u2013 tumore beninje q\u00eb mund t\u00eb gjendet \u00e7do kund n\u00ebp\u00ebr trup. Shum\u00eb njer\u00ebz kan\u00eb tumore n\u00eb l\u00ebkur\u00eb dhe n\u00ebn l\u00ebkur\u00eb, por neurofibromat mund t\u00eb rriten edhe diku brenda n\u00eb trup.<br \/>\nGlioma optike \u2013 tumore t\u00eb nervave optik\u00eb q\u00eb mund t\u00eb ndikojn\u00eb n\u00eb \u00e7do segment t\u00eb tyre duke filluar nga retina gjer te qendra e t\u00eb pamurit n\u00eb tru. Zakonisht zhvillohen para mosh\u00ebs 6 vje\u00e7are dhe pas asaj moshe rrall\u00eb progredojn\u00eb.<br \/>\nThuajse t\u00eb gjith\u00eb pacient\u00ebt kan\u00eb ndryshime n\u00eb irisin e syrit n\u00eb form\u00eb t\u00eb nodulave t\u00eb quajtura nodula Lisch. K\u00ebto nodula t\u00eb vogla jan\u00eb t\u00eb shp\u00ebrndara n\u00eb grupe dhe jan\u00eb ngjyr\u00eb kafe.<br \/>\nDeformitete t\u00eb eshtrave \u2013 \u00e7rregullime n\u00eb rritjen dhe dend\u00ebsin\u00eb e eshtrave mund t\u00eb shkaktojn\u00eb deformitete, si\u00e7 jan\u00eb skolioza ose v\u00ebshtir\u00ebsi me k\u00ebrcinjt\u00eb.<br \/>\nPerimet\u00ebr m\u00eb t\u00eb madh t\u00eb kok\u00ebs \u2013 f\u00ebmij\u00ebt me neurofibromatoz\u00eb tip 1 kan\u00eb kok\u00eb m\u00eb t\u00eb madhe nga mesatarja p\u00ebr shkak t\u00eb mas\u00ebs m\u00eb t\u00eb madhe t\u00eb trurit, por ende nuk \u00ebsht\u00eb e ditur kjo gj\u00eb a ka lidhshm\u00ebri me \u00e7rregullim kognitiv.<br \/>\nShtat t\u00eb shkurt\u00ebr \u2013 f\u00ebmij\u00ebt me NF1 arrijn\u00eb lart\u00ebsi p\u00ebrfundimtare m\u00eb t\u00eb ul\u00ebt se lart\u00ebsia mesatare e popullat\u00ebs.<br \/>\n(radio jingle I njohim s\u00ebmundjet e rralla)<br \/>\nKarakteristikat tjera p\u00ebrfshijn\u00eb tension t\u00eb lart\u00eb t\u00eb gjakut, vaskulopati, tumore intrakraniale dhe sulme epileptike ose hidrocefalus. Zhvillimi intelektual nuk \u00ebsht\u00eb i kapur shum\u00eb, por t\u00eb shpeshta jan\u00eb deficitet kongnitive dhe v\u00ebshtir\u00ebsit\u00eb n\u00eb m\u00ebsime.<br \/>\nNeurofibromet zakonisht fillojn\u00eb t\u00eb paraqiten n\u00eb f\u00ebmij\u00ebri, gjegj\u00ebsisht n\u00eb koh\u00ebn e pubertetit edhe at\u00eb m\u00eb shpesh n\u00eb l\u00ebkur\u00eb, tru, palc\u00ebn kurrizore dhe organe tjera.<br \/>\nShenjat e para t\u00eb neurofibromeve jan\u00eb sip\u00ebrfaqe t\u00eb pigmentuara t\u00eb cilat nuk shkaktojn\u00eb as dhimbje as kruajtje. Njollat e pigmentuara mund t\u00eb paraqiten n\u00eb \u00e7do pjes\u00eb t\u00eb trupit.<br \/>\nShumica e neurofibromeve jan\u00eb beninje nga natyra, n\u00eb fakt vet\u00ebm 5% e tyre kan\u00eb tendenc\u00eb p\u00ebr transformim malinj. Shumica e fibromeve rriten me kalimin e koh\u00ebs dhe mund ta \u00e7rregullojn\u00eb funksionin e disa organeve t\u00eb brendshme. Gjithashtu mund t\u00eb manifestohen edhe \u00e7rregullime n\u00eb indin kockor. S\u00ebmundja haset nj\u00eblloj edhe te burrat edhe te grat\u00eb.<br \/>\nNeurofibromatoza tek f\u00ebmi\u00ebt \u00ebsht\u00eb evidente qysh nga dit\u00ebt e para t\u00eb jet\u00ebs. N\u00eb adoleshenc\u00eb, v\u00ebrrehen tumore t\u00eb madh\u00ebsive dhe formave t\u00eb ndryshme.<br \/>\nNeurofibromet pleksiforme (rriten p\u00ebrgjat\u00eb nervave dhe deg\u00ebve t\u00eb tyre) mund t\u00eb shkaktojn\u00eb probleme n\u00eb funksion dhe dhimbje, ata zakonisht jan\u00eb prezent menj\u00ebhere pas lindjes dhe m\u00eb von\u00eb mund t\u00eb b\u00ebhen malinj.<br \/>\nDiagnostikimi:<br \/>\nQ\u00eb t\u00eb p\u00ebrcaktohet diagnoza Neurofibromatoz\u00eb tip 1, duhet t\u00eb plot\u00ebsohen disa kritere (m\u00eb s\u00eb paku dy p\u00ebr diagnostikim):<br \/>\n&#8211; 6 ose m\u00eb shum\u00eb njolla n\u00eb l\u00ebkur\u00eb me ngjyr\u00eb kafe e hapur;<br \/>\n&#8211; 2 neurofibrome nga cilido lloj ose nj\u00eb neurofibrom pleksiform;<br \/>\n&#8211; gliom\u00eb optike (tumor beninj) q\u00eb mund t\u00eb shkaktoj\u00eb humbje progresive t\u00eb shikimit<br \/>\n&#8211; ndryshime n\u00eb irisin e syve n\u00eb form\u00eb t\u00eb nodulave Lisch;<br \/>\n&#8211; anamnez\u00eb familjare pozitive;<br \/>\n&#8211; ndryshime n\u00eb eshtra.<\/p>\n<p>Pasi q\u00eb b\u00ebhet fjal\u00eb p\u00ebr s\u00ebmundje t\u00eb trash\u00ebgueshme, rekomandohet konsult\u00eb gjenetike kur nj\u00eb person me s\u00ebmundje NF1 planifikon t\u00eb ket\u00eb f\u00ebmij\u00eb. M\u00ebnyra e trash\u00ebgimit \u00ebsht\u00eb autosomale dominante. Te nj\u00eb nga dy raste b\u00ebhet fjal\u00eb p\u00ebr mutacion nga e para apo de novo. Tani \u00ebsht\u00eb i mundur testim gjenetik antenatal dhe para implantimit tek grat\u00eb me shtatzani t\u00eb rrezikuar.<br \/>\nTrajtimi i neurofibromatoz\u00ebs:<br \/>\nNeurofibromatoza nuk mund t\u00eb sh\u00ebrohet, por trajtimi i drejt\u00eb mund ti leht\u00ebsoj\u00eb simptomat dhe ti pengoj\u00eb komplikimet e m\u00ebtejme.<br \/>\nTrajtimi adekuat duhet t\u00eb niset sa m\u00eb herr\u00ebt q\u00eb \u00ebsht\u00eb e mundur.<br \/>\nTe f\u00ebmij\u00ebt rekomandohen vizita vjetore q\u00eb mjeku t\u00eb mund t\u00eb b\u00ebj\u00eb ekzaminime t\u00eb l\u00ebkur\u00ebs dhe t\u00eb konstatoj\u00eb a ka ndryshime t\u00eb reja n\u00eb l\u00ebkur\u00eb.<br \/>\nMatet tensioni i gjakut, rritja dhe zhvillimi si dhe perimetri i kok\u00ebs. B\u00ebhen ekzaminime t\u00eb eshtrave q\u00eb t\u00eb detektohen ndryshime dhe nj\u00eb ekzanimin i plot\u00eb i syrit.<br \/>\nKur f\u00ebmija do t\u00eb rritet, mund t\u00eb p\u00ebrshtaten frekuencat e vizitave te mjeku. T\u00eb rriturit me shenja t\u00eb lehta nuk kan\u00eb nevoj\u00eb p\u00ebr vizita t\u00eb shpeshta.<br \/>\nNF1 k\u00ebrkon qasje multidisciplinare me trajtim dhe mbikqyrje t\u00eb duhur (dermatolog, neurolog, epileptolog dhe specialist\u00eb t\u00eb tjer\u00eb sipas nevoj\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>Neurofibromatosis type 1 (NF1) &#8211; Neurofribromatoza Tip 1 ICD Q85.0 Prevalenca: 1-5\/10.000 Neurofibromatoza \u00ebsht\u00eb \u00e7rregullim gjenetik i cili e \u00e7rregullon [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":138943,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/12-Nevrofibromatoza-tip-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/12-Nevrofibromatoza-tip-1-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"3133","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: NEUROFRIBROMATOZA TIP 1 - \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\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-neurofribromatoza-tip-1\/\" \/>\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: NEUROFRIBROMATOZA TIP 1 - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Neurofibromatosis type 1 (NF1) &#8211; 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