{"id":187728,"date":"2023-02-02T08:29:04","date_gmt":"2023-02-02T07:29:04","guid":{"rendered":"https:\/\/sdk.mk\/?p=187728"},"modified":"2023-02-02T08:29:04","modified_gmt":"2023-02-02T07:29:04","slug":"ju-njoftojme-me-semundjet-e-rralla-semundja-dent","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-semundja-dent\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: S\u00cbMUNDJA DENT"},"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 lang=\"mk-MK\"><em><strong><span style=\"font-size: medium;\">S\u00ebmundja Dent\/Dent syndrome<\/span><\/strong><\/em><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">ICD N 25.8<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Prevalenca: e panjohur<\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">S\u00ebmundja Dent \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb gjenetik i veshkave i karakterizuar nga prania e proteinave n\u00eb urin\u00eb, nivele t\u00eb larta t\u00eb kalciumit n\u00eb urin\u00eb, kalcifikim n\u00eb veshka (nefrokalcinoz\u00eb), episode t\u00eb p\u00ebrs\u00ebritura t\u00eb gur\u00ebve n\u00eb veshka (nefrolithiasis) dhe p\u00ebrfundimisht shpie n\u00eb s\u00ebmundje kronike t\u00eb veshkave. Simptomat zakonisht shfaqen n\u00eb f\u00ebmij\u00ebri, por disa pacient\u00eb mund t\u00eb mbeten t\u00eb padiagnostikuar deri n\u00eb mosh\u00ebn madhore. N\u00eb disa raste, \u00e7rregullimi p\u00ebrkeq\u00ebsohet n\u00eb m\u00ebnyr\u00eb progresive duke \u00e7uar n\u00eb s\u00ebmundje t\u00eb r\u00ebnd\u00eb veshkore gjegj\u00ebsisht insuficienc\u00eb renale. Ka raste kur s\u00ebmundja mbetet e leht\u00eb ose mesatare deri n\u00eb pleq\u00ebri. <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">S\u00ebmundja mund t\u00eb ndahet n\u00eb dy tipe: Tipi 1 i karakterizuar nga \u00e7rregullimet tashm\u00eb t\u00eb p\u00ebrmendura t\u00eb sistemit renal; Tipi 2, i cili p\u00ebrve\u00e7 simptomave renale, karakterizohet gjithashtu edhe me paaft\u00ebsi t\u00eb leht\u00eb intelektuale, zvog\u00eblim i tonit muskulor (hipotoni) dhe \u00e7rregullime t\u00eb shikimit. S\u00ebmundja Dent Tipi 1 shkaktohet nga mutacionet n\u00eb gjenin CLCN5, nd\u00ebrsa Tipi 2 shkaktohet nga mutacionet n\u00eb gjenin OCRL1. K\u00ebto mutacione mund t\u00eb trash\u00ebgohen nga prind\u00ebrit ose mund t\u00eb ndodhin spontanisht (&#8220;de novo&#8221;), pa histori t\u00eb m\u00ebparshme familjare. S\u00ebmundja manifestohet plot\u00ebsisht vet\u00ebm te burrat, nd\u00ebrsa disa gra q\u00eb mbartin gjenin e s\u00ebmundjes mund t\u00eb zhvillojn\u00eb simptoma t\u00eb lehta, si proteina n\u00eb urin\u00eb, rritje e kalciumit n\u00eb urin\u00eb ose, m\u00eb rrall\u00eb, gur\u00eb n\u00eb veshka. Sindroma Dent u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb literatur\u00ebn mjek\u00ebsore nga Charles Enrique Dent dhe M. Friedman n\u00eb vitin 1964, kur ata raportuan rastin e dy djemve britanik\u00eb me rakit t\u00eb shoq\u00ebruar me d\u00ebmtim tubular t\u00eb veshkave t\u00eb karakterizuar nga hiperkalciuria, hiperfosfaturia, proteinuria dhe aminoaciduria. Ky kombinim i simptomave nuk mori nj\u00eb em\u00ebr deri 30 vjet m\u00eb von\u00eb, kur nefrologu Oliver Wrong e p\u00ebrshkroi s\u00ebmundjen m\u00eb detajisht dhe e quajti at\u00eb p\u00ebr nder t\u00eb mentorit t\u00eb tij.<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Shenjat dhe simptomat:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Simptomat specifike t\u00eb s\u00ebmundjes mund t\u00eb ndryshojn\u00eb n\u00eb m\u00ebnyr\u00eb drastike nga pacienti n\u00eb pacient. Numri i vog\u00ebl i rasteve t\u00eb identifikuara dhe mungesa e studimeve t\u00eb m\u00ebdha klinike i pengojn\u00eb mjek\u00ebt t\u00eb krijojn\u00eb nj\u00eb pasqyr\u00eb t\u00eb plot\u00eb t\u00eb simptomave dhe shenjave t\u00eb s\u00ebmundjes dhe simptomave shoq\u00ebruese, t\u00eb cilat mund t\u00eb shfaqen n\u00eb \u00e7rregullime t\u00eb tjera. <\/span><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Simptomat e zakonshme q\u00eb lidhen me s\u00ebmundjen Dent tip 1 p\u00ebrfshijn\u00eb sasi t\u00eb larta t\u00eb proteinave me mas\u00eb molekulare t\u00eb vog\u00ebl dhe kalciumit n\u00eb urin\u00eb (proteinuri, hiperkalciuri). K\u00ebto mund t\u00eb jen\u00eb simptomat e vetme te disa pacient\u00eb. Pacient\u00ebt mund t\u00eb ken\u00eb kalcifikime n\u00eb veshka (nefrokalcinoz\u00eb). Shpesh ndodhin episode t\u00eb p\u00ebrs\u00ebritura t\u00eb formimit t\u00eb gur\u00ebve n\u00eb veshka. Guri mund t\u00eb shkaktoj\u00eb nj\u00eb s\u00ebr\u00eb simptomash, duke p\u00ebrfshir\u00eb gjak n\u00eb urin\u00eb (hematuri), urinim t\u00eb dhimbsh\u00ebm (disuri), nxitje p\u00ebr t\u00eb urinuar shpesh, dhimbje n\u00eb rajonin e mesit (kolik\u00eb renale). M\u00eb pas vjen gjer n\u00eb bllokim t\u00eb rrug\u00ebve urinare dhe infeksione t\u00eb shpeshta. P\u00ebrfundimisht, \u00e7rregullimi mund t\u00eb p\u00ebrparoj\u00eb n\u00eb s\u00ebmundje kronike t\u00eb veshkave me nj\u00eb r\u00ebnie progresive t\u00eb funksionit t\u00eb tyre. Simptomat q\u00eb lidhen me s\u00ebmundjen e avancuar kronike t\u00eb veshkave p\u00ebrfshijn\u00eb humbjen e oreksit, humbje peshe, lodhje dhe anemi. N\u00eb fazat e fundit t\u00eb s\u00ebmundjes, pacient\u00ebt mund t\u00eb ken\u00eb nevoj\u00eb p\u00ebr dializ\u00eb ose transplantim t\u00eb veshkave. S\u00ebmundja Dent tip 2, p\u00ebrve\u00e7 simptomave t\u00eb tipit 1, mund t\u00eb manifestohet edhe me \u00e7rregullime intelektuale, hipotoni, turbullim t\u00eb thjerr\u00ebz\u00ebs (katarakt\u00eb).<\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Diagnoza:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Diagnoza e sindrom\u00ebs Dent bazohet n\u00eb identifikimin e simptomave karakteristike, nj\u00eb histori t\u00eb detajuar, vler\u00ebsimin klinik t\u00eb pacientit dhe teste t\u00eb ndryshme t\u00eb specializuara. S\u00ebmundja mund t\u00eb dyshohet te persona q\u00eb n\u00eb urin\u00eb kan\u00eb sasi t\u00eb larta t\u00eb proteinave me mas\u00eb molekulare t\u00eb vog\u00ebl, hiperkalciuri dhe nj\u00eb nga k\u00ebto: nefrokalcinoz\u00eb, nefrolitiaz\u00eb, hematuri, hipofosfatemi, s\u00ebmundje kronike t\u00eb veshkave, d\u00ebshmi t\u00eb trash\u00ebgimis\u00eb. Analiza kimike e mostrave t\u00eb urin\u00ebs mund t\u00eb zbuloj\u00eb nivele t\u00eb larta t\u00eb kalciumit dhe proteinave me mas\u00eb molekulare t\u00eb vog\u00ebl. Diagnoza e s\u00ebmundjes konfirmohet me testim gjenetik molekular q\u00eb identifikon mutacionet n\u00eb gjene. <\/span><\/p>\n<p lang=\"mk-MK\"><strong><span style=\"font-size: medium;\">Trajtimi:<\/span><\/strong><\/p>\n<p lang=\"mk-MK\"><span style=\"font-size: medium;\">Trajtimi i sindrom\u00ebs Dent fokusohet n\u00eb simptomat specifike q\u00eb jan\u00eb evidente te \u00e7do pacient. Trajtimi adekuat k\u00ebrkon p\u00ebrpjekjet e koordinuara t\u00eb nj\u00eb ekipi specialist\u00ebsh (pediat\u00ebr, internist, nefrolog, urolog, nutricionist). K\u00ebshillimi gjenetik mund t\u00eb jet\u00eb i dobish\u00ebm p\u00ebr pacient\u00ebt dhe familjet e tyre. P\u00ebr shkak t\u00eb incidenc\u00ebs s\u00eb ul\u00ebt t\u00eb k\u00ebsaj s\u00ebmundjeje, ende nuk jan\u00eb kryer studime n\u00eb nj\u00eb grup t\u00eb madh pacient\u00ebsh. Medikamentet e njohura si tiazide mund t\u00eb p\u00ebrdoren p\u00ebr t\u00eb parandaluar p\u00ebrs\u00ebritjen e gur\u00ebve n\u00eb veshka dhe p\u00ebr t\u00eb ulur nivelet e kalciumit n\u00eb urin\u00eb. Megjithat\u00eb, p\u00ebr shkak t\u00eb efekteve an\u00ebsore t\u00eb mundshme, k\u00ebto barna duhet t\u00eb p\u00ebrdoren me kujdes. Vitamina D p\u00ebr trajtimin e rakitizmit, n\u00ebse p\u00ebrdoret, duhet t\u00eb p\u00ebrdoret me kujdes, sepse sasit\u00eb e tep\u00ebrta t\u00eb vitamin\u00ebs D mund t\u00eb rrisin nivelin e kalciumit n\u00eb urin\u00eb. Ngecja n\u00eb rritje tek f\u00ebmij\u00ebt mund t\u00eb trajtohet me hormonin e rritjes. N\u00ebse funksioni i veshkave vazhdon t\u00eb bjer\u00eb n\u00eb m\u00ebnyr\u00eb progresive ose n\u00ebse s\u00ebmundja diagnostikohet von\u00eb, mund t\u00eb k\u00ebrkohet trajtim m\u00eb agresiv, duke p\u00ebrfshir\u00eb hemodializ\u00ebn, dializ\u00ebn peritoneale dhe transplantin e veshkave. M\u00eb n\u00eb fund, nevojiten m\u00eb shum\u00eb k\u00ebrkime, p\u00ebr t\u00eb p\u00ebrcaktuar metodat m\u00eb efektive t\u00eb trajtimit q\u00eb do t\u00eb sigurojn\u00eb siguri afatgjat\u00eb dhe rezultate m\u00eb t\u00eb mira p\u00ebr pacient\u00ebt.<\/span><\/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>S\u00ebmundja Dent\/Dent syndrome ICD N 25.8 Prevalenca: e panjohur S\u00ebmundja Dent \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb gjenetik i veshkave i [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":187729,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/02-Dent-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/02-Dent-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"120","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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