{"id":139098,"date":"2021-02-14T09:24:17","date_gmt":"2021-02-14T08:24:17","guid":{"rendered":"https:\/\/sdk.mk\/?p=139098"},"modified":"2021-02-14T09:24:17","modified_gmt":"2021-02-14T08:24:17","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-pendred","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-sindroma-pendred\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA PENDRED"},"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=ZiNz8I4zqaI&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=14\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Pendred syndrome &#8211; Sindroma Pendred<\/strong><\/em><\/a><br \/>\nICD E07.1<br \/>\nPrevalenca: 1-9\/100.000<\/p>\n<p>Sindroma Pendred \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i cili dallohet nga humbja e hershme e d\u00ebgjimit tek f\u00ebmij\u00ebt. P\u00ebrve\u00e7 humbjes s\u00eb d\u00ebgjimit, shpesh shfaqet edhe \u00e7rregullim i baraspesh\u00ebs dhe i gj\u00ebndr\u00ebs tiroide. F\u00ebmij\u00ebt e lindur me k\u00ebt\u00eb sindrome fillojn\u00eb ta humbin d\u00ebgjimin nga mosha tri vje\u00e7e dhe s\u00ebmundja keq\u00ebsohet, me kalimin e koh\u00ebs humbja e d\u00ebgjimit shprehet akoma m\u00eb shum\u00eb. D\u00ebgjimi humbet n\u00eb t\u00eb dy vesh\u00ebt, por shpesh \u00ebsht\u00eb m\u00eb i shprehur nga nj\u00ebra an\u00eb. Incidenca e sakt\u00eb e k\u00ebsaj s\u00ebmundjeje nuk dihet. Sindroma e mban emrin e mjekut britanik Pendred i cili i pari e p\u00ebrshkruajti k\u00ebt\u00eb gj\u00ebndje n\u00eb nj\u00eb familje irlandeze n\u00eb Duram n\u00eb vitin 1896. Kjo sindrom\u00eb p\u00ebrfshin 7,5% gjer 15% nga t\u00eb gjitha rastet me shurdh\u00ebsi t\u00eb lindur.<\/p>\n<p>Shkaku:<\/p>\n<p>Sindroma Pendred \u00ebsht\u00eb e shkaktuar nga mutacion n\u00eb gjenin SLC26A4 i vendosur n\u00eb kromozomin 7. Mutacioni trash\u00ebgohet n\u00eb form\u00eb autosomale recisive, q\u00eb do t\u00eb thot\u00eb p\u00ebr tu shfaqur s\u00ebmundja nevojiten dy kopje t\u00eb gjenit me mutacion.<\/p>\n<p>Pasqyra klinike:<\/p>\n<p>F\u00ebmij\u00ebt me sindrom\u00ebn Pendred d\u00ebgjojn\u00eb dob\u00ebt nga lindja ose d\u00ebgjimi fillon t\u00eb keq\u00ebsohet nga mosha tri vje\u00e7are. Jan\u00eb t\u00eb p\u00ebrshkruara raste ku d\u00ebgjimi \u00ebsht\u00eb kthyer pas nj\u00eb kohe t\u00eb caktuar, por n\u00eb p\u00ebrgjith\u00ebsi ekziston d\u00ebmtim i p\u00ebrhersh\u00ebm i d\u00ebgjimit me shurdh\u00ebsi n\u00eb stadin e fundit.<br \/>\nZmadhimi i gj\u00ebndr\u00ebs tiroide shfaqet tek 60% i pacient\u00ebve, e cila mund t\u00eb shkaktoj\u00eb frym\u00ebmarje dhe g\u00eblltitje t\u00eb v\u00ebshtir\u00ebsuar, por shum\u00eb rrall\u00eb shkakton \u00e7rregullim t\u00eb rritjes dhe t\u00eb zhvillimit. P\u00ebr shkak t\u00eb anomalive n\u00eb sistemin vestibular, rreth 40% e pacient\u00ebve gjithashtu kan\u00eb v\u00ebshtir\u00ebsi n\u00eb mbajtjen e ekuilibrit. P\u00ebr k\u00ebt\u00eb arsye disa f\u00ebmij\u00eb fillojn\u00eb t\u00eb ecin m\u00eb von\u00eb se moshatar\u00ebt e tyre, por me von\u00eb n\u00eb p\u00ebrgjith\u00ebsi nuk kan\u00eb asnj\u00eb v\u00ebshtir\u00ebsi t\u00eb k\u00ebtij lloji. Intelekti i f\u00ebmij\u00ebve me k\u00ebt\u00eb sindrom\u00eb nuk \u00ebsht\u00eb i kapur, por p\u00ebr shkak t\u00eb d\u00ebmtimit t\u00eb d\u00ebgjimit, shpesh kan\u00eb ngecje n\u00eb zhvillim n\u00eb krahasim me moshatar\u00ebt.<\/p>\n<p>Diagnostikimi:<\/p>\n<p>Diagnoza e sidnrom\u00ebs Pendred p\u00ebrckatohet n\u00eb baz\u00eb t\u00eb shenjave t\u00eb s\u00ebmundjes dhe ekzamini nga ana e otorinolaringologut, dmth nevojitet ekzaminim i detajuar si\u00e7 jan\u00eb audiograma dhe testi vestibular. Tomografia kompjuterike dhe rezonanca magnetike e kafk\u00ebs shum\u00eb shpesh shfaqin ndryshime tipike t\u00eb veshit t\u00eb brendsh\u00ebm te sindroma Pendred (koklea ka spirale t\u00eb vog\u00ebl dhe vestibuli \u00ebsht\u00eb i zgjeruar). Testet laboratorike duhet t\u00eb b\u00ebhen n\u00eb drejtim t\u00eb ekzaminimit t\u00eb detajuar t\u00eb funksionit t\u00eb gj\u00ebndr\u00ebs tiroide ashtu q\u00eb p\u00ebrckaktohet niveli i hormonit t\u00eb tiroides dhe nj\u00ebkohsisht realizohet edhe ultraz\u00eb i gj\u00ebndr\u00ebs tiroide. Diagnoza p\u00ebrfundimtare e sindrom\u00ebs Pendred p\u00ebrcaktohet vet\u00ebm me testim gjenetik. Gjithashtu, rekomandohet testim prenatal i grave shtatzane n\u00eb familje me anamnez\u00eb pozitive familjare.<\/p>\n<p>Trajtimi:<\/p>\n<p>F\u00ebmij\u00ebt me k\u00ebt\u00eb sindrom\u00eb duhet t\u00eb m\u00ebsohen t\u00eb p\u00ebrdorin aparate d\u00ebgjimi sa m\u00eb her\u00ebt, kjo gj\u00eb do tu mund\u00ebsoj\u00eb zhvillim normal t\u00eb t\u00eb folurit q\u00eb t\u00eb mund t\u00eb shoq\u00ebrohen me moshatar\u00ebt e tyre. Gjithashtu duhet t\u00eb evitohen sporte q\u00eb rrezikojn\u00eb l\u00ebndim t\u00eb kok\u00ebs si edhe ndryshime t\u00eb shtypjes (si\u00e7 ndodh gjat\u00eb zhytjes). Implantet kokleare mund t\u00eb vendosen kur d\u00ebgjimi \u00ebsht\u00eb krejtsisht i d\u00ebmtuar. Niveli i hormoneve t\u00eb tirodies duhet t\u00eb ndiqen rregullisht dhe n\u00ebse ka nevoj\u00eb t\u00eb jepet trajtim i duhur. Ashtu si\u00e7 edhe te s\u00ebmundjet tjera gjenetike, vijojn\u00eb hulumtime dhe mund\u00ebsi p\u00ebt terapi gjentike n\u00eb ardhm\u00ebri.<\/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>Pendred syndrome &#8211; Sindroma Pendred ICD E07.1 Prevalenca: 1-9\/100.000 Sindroma Pendred \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i cili dallohet nga humbja [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139096,"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\/14-Pendred-sindrom-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/14-Pendred-sindrom-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"406","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\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: SINDROMA PENDRED - \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-sindroma-pendred\/\" \/>\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: SINDROMA PENDRED - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Pendred syndrome &#8211; 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