{"id":106543,"date":"2020-02-09T09:28:43","date_gmt":"2020-02-09T08:28:43","guid":{"rendered":"https:\/\/sdk.mk\/?p=106543"},"modified":"2020-02-09T09:28:43","modified_gmt":"2020-02-09T08:28:43","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-lowe","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/histori-te-parrefyera\/ju-njoftojme-me-semundjet-e-rralla-sindroma-lowe\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA LOWE"},"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=Nc8QarYTxXs&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=10&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Sindroma Lowe<\/strong><\/em><\/a><br \/>\nKNS E 72.0<\/p>\n<p>Lowe syndrome<\/p>\n<p>Sindroma Lowe karakterizohet me probleme n\u00eb t\u00eb pamurit, duke e p\u00ebrfshir\u00eb edhe kataraktin q\u00eb \u00ebsht\u00eb prezent qysh nga lindja, probleme me veshkat t\u00eb cilat zakonisht zhvillohen n\u00eb vitin e pare t\u00eb jet\u00ebs dhe abnormalitete n\u00eb tru q\u00eb lidhen me pengesa n\u00eb zhvillimin intelektual.<br \/>\nM\u00ebnyra e trash\u00ebgimis\u00eb<br \/>\nSindroma Lowe trash\u00ebgohet si nj\u00eb s\u00ebmundje e lidhur p\u00ebr kromozomin X.<br \/>\nPasqyra klinike<br \/>\nT\u00eb porsalindurit me sindrom\u00ebn Lowe kan\u00eb katarakt i cili \u00ebsht\u00eb prezent qysh nga lindja (dhe mund t\u00eb zbulohet me ultraz\u00eb prenatal te rastet e dyshimta). Korigjimi i mpreht\u00ebsis\u00eb t\u00eb t\u00eb pamurit rrall\u00eb kur \u00ebsht\u00eb m\u00eb i mir\u00eb se 20\/100.<br \/>\nP\u00ebraf\u00ebrsisht te gjysma e pacient\u00ebve shfaqet glaukoma q\u00eb mund t\u00eb shpie gjer n\u00eb verb\u00ebrim n\u00ebse nuk kontrollohet. T\u00eb porsalindurit gjat\u00eb lindjes kan\u00eb tonus t\u00eb dob\u00ebt t\u00eb muskujve (hipotoni) dhe zhvillim motorik t\u00eb vonuar. V\u00ebrrehet edhe penges\u00eb n\u00eb zhvillimin mendor q\u00eb mund t\u00eb ndryshoj\u00eb nga forma m\u00eb e leht\u00eb gjer te forma m\u00eb e r\u00ebnd\u00eb. Paralizat shfaqen p\u00ebraf\u00ebrsisht te gjysma e pacient\u00ebve t\u00eb mosh\u00ebs gjasht\u00eb vje\u00e7e, gjithashtu shfaqen edhe ndryshime n\u00eb sjellje. Te k\u00ebta pacient\u00eb regjistrohet edhe disfunkcion i tubuleve proksimale ose Fankoni sindrom. Ky disfunksion rezulton n\u00eb humbjen e disa materjeve (aminoacideve, bikarbonateve dhe fosfateve) n\u00eb urin\u00eb, t\u00eb cil\u00ebt zakonisht reabsorbohen para ekskrecionit n\u00eb urin\u00ebn finale. Shenja t\u00eb tjera q\u00eb regjistrohen gjat\u00eb sindrom\u00ebs Lowe jan\u00eb ngecja n\u00eb rritje, cista t\u00eb dh\u00ebmb\u00ebve dhe formim abnormal i dentin\u00ebs s\u00eb dh\u00ebmb\u00ebve, cista n\u00eb l\u00ebkur\u00eb dhe munges\u00eb e vitamin\u00ebs D t\u00eb cil\u00ebt mund t\u00eb shpien gjer te dob\u00ebsimi i eshtrave, ndryshime skeletore (rakit), thyerje t\u00eb kockave, skolioz\u00eb dhe s\u00ebmundje degjenerative joinflamatore e nyjeve.<br \/>\nShkaqet<br \/>\nSindroma Lowe \u00ebsht\u00eb \u00e7rregullim gjenetik i lidhur p\u00ebr kromozomin X, i shkaktuarr nga mutacion n\u00eb gjenin OCRL, q\u00eb rezulton me aktivitet t\u00eb ul\u00ebt t\u00eb enzim\u00ebs 5-fosfataza. Rreth nj\u00eb e treta e meshkujve t\u00eb s\u00ebmur\u00eb bartin mutacionin. Te rastet tjera, s\u00ebmundja trash\u00ebgohet nga n\u00ebna, cila \u00ebsht\u00eb bart\u00ebse e gjenit. \u00c7do vajz\u00eb bart\u00ebse e k\u00ebsaj s\u00ebmundjeje, n\u00eb mosh\u00ebn 10 vje\u00e7are do t\u00eb shfaq ndryshime karakteristike t\u00eb thjerr\u00ebzave t\u00eb syve, q\u00eb dallojn\u00eb nga \u00e7do lloj tjet\u00ebr katarakti metabolik. Disa nga ato do t\u00eb zhvillojn\u00eb katarkt t\u00eb shprehur madje edhe n\u00eb t\u00eb 30-at e hershme, i cili do t\u00eb k\u00ebrkoj\u00eb trajtim kirurgjik. Gjithashtu katarkti mund t\u00eb mos v\u00ebrrehet nga kirurgu. Sidoqoft\u00eb, k\u00ebto ndryshime karakteristike t\u00eb thjerr\u00ebz\u00ebs t\u00eb grat\u00eb bart\u00ebse t\u00eb gjenit duhet ta sygjerojn\u00eb oftalmologun q\u00eb t\u00eb jep k\u00ebshilla p\u00ebr shtatzanit\u00eb n\u00eb ardhm\u00ebri sidomos kur pritet foshnja t\u00eb jet\u00eb mashkull. Burri ka vet\u00ebm nj\u00eb kromozom X i cili e p\u00ebrmban gjenin p\u00ebr k\u00ebt\u00eb syndrome, prandaj ai e manifeston s\u00ebmundjen n\u00eb t\u00ebr\u00ebsi.<br \/>\nDiagnostikimi<br \/>\nSindroma Lowe diagnostikohet kur v\u00ebrtetohet aktivitet i ul\u00ebt i enzim\u00ebs 5-fosfataza n\u00eb qelizat e kultivuara t\u00eb l\u00ebkur\u00ebs (fibroblaste). Analiza gjenetike molekulare p\u00ebr mutacione t\u00eb OCRL gjenit gjithashtu \u00ebsht\u00eb e mundshme dhe zbulohet sakt\u00eb te m\u00eb shum\u00eb se 95% e meshkujve t\u00eb s\u00ebmur\u00eb. Rreth 95% e vajzave bart\u00ebse t\u00eb gjenit dhe m\u00eb t\u00eb moshuara se 10 vje\u00e7 kan\u00eb ndryshime specifike dhe karakteristike t\u00eb thjerr\u00ebzave t\u00eb syve q\u00eb mund t\u00eb v\u00ebrtetohet nga nj\u00eb oftalmolog me eksperienc\u00eb. Diagnostikimi prenatal \u00ebsht\u00eb i mundsh\u00ebm me ekzaminim biokimik (analiz\u00eb t\u00eb enzimave) ose me analiz\u00eb gjenetike, n\u00ebse mutacion n\u00eb OCRL gjenin \u00ebsht\u00eb gjetur te an\u00ebtar mashkull i s\u00ebmur\u00eb i familjes apo te n\u00ebna bart\u00ebse e gjenit.<br \/>\nTrajtimi<br \/>\nTrajtimi i sindrom\u00ebs Lowe zakonisht k\u00ebrkon ekip mjek\u00ebsor profesional, duke e p\u00ebrfshir\u00eb k\u00ebtu edhe oftalmologun pediatrik, nefrologun, konsulentin gjenetik, nutricionistin, endokrinologun, neurologun, defektologun, kirurgun e p\u00ebrgjithsh\u00ebm, ortopedin dhe stomatologun.<br \/>\nTonusi i dob\u00ebt i muskujve (hipotonia) nganj\u00ebher\u00eb mund t\u00eb rezultoj\u00eb me probleme me t\u00eb ushqyerit. K\u00ebshtu q\u00eb mund t\u00eb jet\u00eb shkak p\u00ebr tu ushqyer me gyp dhe nd\u00ebrmarjen e masave kund\u00ebr refluksit gastroezofageal. Menjanimi i parakohsh\u00ebm i kataraktit rekomandohet q\u00eb t\u00eb mund\u00ebsohet zhvillim optimal i t\u00eb pamurit. Syzet p\u00ebr diel dhe thjerr\u00ebzat p\u00ebr sy ndihmojn\u00eb n\u00eb p\u00ebrmir\u00ebsimin e t\u00eb pamurit. Glaukoma q\u00eb shfaqet te gjysma e meshkujve t\u00eb s\u00ebmur\u00eb nga kjo s\u00ebmundje ndonj\u00ebher\u00eb mund t\u00eb sh\u00ebrrohet me medikamente por zakonisht nevojitet operacion. Disfunksioni proksimal tubular Fankoni trajtohet me suplemente orale t\u00eb bikarbonateve t\u00eb natriumit dhe kaliumit dhe citrate. Doza caktohet individualisht. Fosfate orale dhe kalcitrioli sh\u00ebrbehen p\u00ebr sh\u00ebrim (ose pengim) t\u00eb rakitizmit. Dend\u00ebsia e eshtrave duhet t\u00eb ndiqet periodikisht. Konvulsionet kontrollohen me medikamenti antikonvulsive. Ndryshimet n\u00eb sjellje trajtohen me modifikim t\u00eb sjelljes dhe me medikamente. Rekomandohen programe p\u00ebr intervenc\u00eb t\u00eb hershme q\u00eb p\u00ebrfshijn\u00eb terapi fizikale, terapi profesionale, terapi e gjuh\u00ebs dhe e t\u00eb folurit, sh\u00ebrbime speciale p\u00ebr arsimim dhe sh\u00ebrbime p\u00ebr persona me shikim t\u00eb d\u00ebmtuar q\u00eb duhet t\u00eb nisin n\u00eb mosh\u00ebn e hershme f\u00ebmij\u00ebrore.<br \/>\nDjemt\u00eb me k\u00ebt\u00eb s\u00ebmundje duhet t\u00eb kontrollohen rregullisht p\u00ebr problemet me t\u00eb pamurit, funksionin e veshkave, rritjen, zhvillimin, skolioz\u00ebn dhe problemet me nyjet dhe me dh\u00ebmb\u00ebt. S\u00ebmundja e veshkave n\u00eb stadin e fundit sh\u00ebrrohet me sukses me dijaliz\u00eb dhe me transplant t\u00eb veshk\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>Sindroma Lowe KNS E 72.0 Lowe syndrome Sindroma Lowe karakterizohet me probleme n\u00eb t\u00eb pamurit, duke e p\u00ebrfshir\u00eb edhe kataraktin [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":106541,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"","inline_featured_image":false},"categories":[3085],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/09-Lowe-syndrome-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/09-Lowe-syndrome-250x141.png","categoryNames":["Histori t\u00eb parr\u00ebfyera"],"feature_caption":"","subtitle":"","views":"1142","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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