{"id":107477,"date":"2020-02-23T09:07:32","date_gmt":"2020-02-23T08:07:32","guid":{"rendered":"https:\/\/sdk.mk\/?p=107477"},"modified":"2020-02-23T09:07:32","modified_gmt":"2020-02-23T08:07:32","slug":"ju-njoftojme-me-semundjet-e-rralla-skleroza-tuberoze","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-skleroza-tuberoze\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SKLEROZA TUBEROZE"},"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=oHx5y9RzHms&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=24&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Skleroza tuberoze kompleks<\/strong><\/em><\/a><\/p>\n<p>MKB Q 85.1<\/p>\n<p>Tuberous sclerosis complex<\/p>\n<p>Skleroza tuberoze (tuberous sclerosis complex) \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike q\u00eb shkakton tumore beninj\u00eb q\u00eb rriten n\u00eb sisteme t\u00eb ndryshme organike, duke p\u00ebrfshir\u00eb k\u00ebtu edhe trurin, veshkat, zemr\u00ebn, mushk\u00ebrit\u00eb, syt\u00eb, m\u00ebl\u00e7in\u00eb, pankreasin dhe l\u00ebkur\u00ebn. K\u00ebto tumore mund t\u00eb sjellin deri n\u00eb zhvillimin e vonuar, konvulsione, s\u00ebmundje tek veshkat e shum\u00eb t\u00eb tjera. Gjithsesi, prognoza n\u00eb linj\u00ebn finale varet nga shkalla e diseminanc\u00ebs ose p\u00ebrhapjes s\u00eb tumorit.<\/p>\n<p>Skleroza tuberoze \u00ebsht\u00eb s\u00ebmundje gjenetike me incidenc\u00eb nga 1 rast n\u00eb 5.000 &#8211; 10.000 lindje. Shkaktohet nga mutacioni i gjenit TSC1 ose TSC2. Shkaku i sakt\u00eb p\u00ebr k\u00ebto mutacione ende nuk dihet.<\/p>\n<p>Skleroza tuberoze mund t\u00eb trash\u00ebgohet \u0430utosome dominante. Tek s\u00ebmundjet autosome dominonte vet\u00ebm nj\u00ebri prind duhet t\u00eb ket\u00eb kopje t\u00eb gjenit mutant, q\u00eb ta transmetoj\u00eb s\u00ebmundjen tek i biri ose e bija.<br \/>\nPjesa m\u00eb e madhe e pacient\u00ebve jan\u00eb t\u00eb prekur nga mutacione t\u00eb reja tek familjet q\u00eb m\u00eb par\u00eb nuk kan\u00eb pasur skleroza tuberoze. Kur shfaqet mutacioni s\u00ebmundje transmetohet p\u00ebrmes trash\u00ebgimis\u00eb autosome dominante.<\/p>\n<p>Pasi q\u00eb skleroza tuberoze \u00ebsht\u00eb relativisht e rrall\u00eb, \u00ebsht\u00eb e v\u00ebshtir\u00eb t\u00eb konfirmohet prevalenca e saj e v\u00ebrtet\u00eb. Vler\u00ebsohet se kjo s\u00ebmundje prek nga 1 dhe 2 milion\u00eb njer\u00ebz n\u00eb mbar\u00eb bot\u00ebn.<\/p>\n<p>Simptomat dhe shenjat<\/p>\n<p>F\u00ebmij\u00ebt me Skleroz\u00eb tuberoze mund t\u00eb preken nga epilepsia, retardimi mental, autizmi, v\u00ebshtir\u00ebsi n\u00eb m\u00ebsim ose n\u00eb sjellje. S\u00ebmundja mund t\u00eb manifestohet me forma konvulsionesh, t\u00eb quajtura ng\u00ebr\u00e7e infantile.<br \/>\nPjesa m\u00eb e madhe e f\u00ebmij\u00ebve kan\u00eb tumore n\u00eb veshka, zakonisht angiomiolipome, q\u00eb mund t\u00eb shkaktojn\u00eb hipertension dhe s\u00ebmundje cistike veshkash. Mund t\u00eb zhvillohet edhe karcinom n\u00eb veshka.<\/p>\n<p>Foshnjat e lindura me skleroz\u00eb tuberoze shpesh kan\u00eb prezenc\u00eb t\u00eb tumoreve n\u00eb zem\u00ebr, t\u00eb quajtura radbomiomi. Tek pjesa m\u00eb e madhe e foshnjave k\u00ebto tumore nuk shkaktojn\u00eb asnj\u00eb lloj problemi dhe reduktohen me rritjen e mosh\u00ebs s\u00eb tyre. Megjithat\u00eb, n\u00ebse tumoret jan\u00eb mjaftuesh\u00ebm t\u00eb m\u00ebdhenj, ato mundet q\u00eb t\u00eb bllokojn\u00eb qarkullimin e gjakut.<\/p>\n<p>Simptomat dermatologjike :<br \/>\nnjolla hipopigmentike n\u00eb l\u00ebkur\u00eb ,<br \/>\nangiofibroma,<br \/>\nzgjatime kolagjeni n\u00eb l\u00ebkur\u00eb, zakonisht n\u00eb pjes\u00ebn e poshtme t\u00eb kurrizit,<br \/>\nnjolla ngjyr\u00eb kafe fibroze n\u00eb ball\u00eb .<br \/>\nTSK \u00ebsht\u00eb gjendje kronike, q\u00eb zgjat gjith\u00eb jet\u00ebn. Gjat\u00eb tranzicionit t\u00eb pacient\u00ebve nga adoleshent\u00eb n\u00eb t\u00eb rritur, sulmet mund t\u00eb vazhdojn\u00eb; problemet renale dhe \/ ose pulmonale mund t\u00eb b\u00ebhen m\u00eb serioze dhe t\u00eb provokojn\u00eb rreziqe p\u00ebr morbiditet dometh\u00ebn\u00ebs dhe mortalitet t\u00eb p\u00ebrkohsh\u00ebm, si edhe mund t\u00eb shfaqen, t\u00eb vijojn\u00eb ose t\u00eb p\u00ebrkeq\u00ebsohen problemet psikologjike dhe problemet me sjelljen.<\/p>\n<p>Diagnostika<\/p>\n<p>Ndryshimet n\u00eb zem\u00ebr dhe tru mund t\u00eb v\u00ebrehen nga ultratingulli prenatal. Kontrolli i fundusit t\u00eb syve mund t\u00eb zbuloj\u00eb njolla rrjete. MNR ose ultratingulli i organeve t\u00eb prekura \u00ebsht\u00eb i domosdosh\u00ebm q\u00eb t\u00eb konfirmohet diagnoza.<\/p>\n<p>Prognoza dhe trajtimi<\/p>\n<p>Prognoza varet nga serioziteti i simptomave. F\u00ebmij\u00ebt me simptoma m\u00eb t\u00eb lehta zakonisht jan\u00eb n\u00eb gjendje t\u00eb mir\u00eb sh\u00ebndet\u00ebsore dhe jetojn\u00eb gjat\u00eb, jet\u00eb produktive, nd\u00ebrsa f\u00ebmij\u00ebt me simptoma serioze mund t\u00eb manifestojn\u00eb v\u00ebshtir\u00ebsi t\u00eb r\u00ebnda. Pa marr\u00eb parasysh seriozitetin e s\u00ebmundjes, pjesa m\u00eb e madhe e f\u00ebmij\u00ebve manifestojn\u00eb nj\u00eb avancim t\u00eb vazhduesh\u00ebm n\u00eb zhvillim. Ndonj\u00ebher\u00eb mund t\u00eb ket\u00eb degjeneracion neurologjik, q\u00eb duhet t\u00eb analizohet.<br \/>\nTrajtimi \u00ebsht\u00eb simptomatik dhe mund t\u00eb p\u00ebrfshij\u00eb antikonvulsione ose edhe operimin e trurit. Ndryshimet n\u00eb l\u00ebkur\u00eb mund t\u00eb eliminohen me dermabrazion ose laser. Ndryshimet n\u00eb sjellje si edhe hipertensioni, t\u00eb shkaktuara nga ndryshimet n\u00eb veshka, mund t\u00eb zgjidhen me farmakoterapi dhe tumoret e krijuara t\u00eb eliminohen me operacion. Adoleshent\u00ebve dhe t\u00eb rriturve n\u00eb periudh\u00ebn reproduktive iu sugjerohet t\u00eb drejtohen tek k\u00ebshillimi gjenetik.<\/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>Skleroza tuberoze kompleks MKB Q 85.1 Tuberous sclerosis complex Skleroza tuberoze (tuberous sclerosis complex) \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb gjenetike [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":107475,"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\/23-Tuberous-sclerosis-complex-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/23-Tuberous-sclerosis-complex-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"5025","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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