{"id":165466,"date":"2022-02-07T08:46:40","date_gmt":"2022-02-07T07:46:40","guid":{"rendered":"https:\/\/sdk.mk\/?p=165466"},"modified":"2022-02-07T08:46:40","modified_gmt":"2022-02-07T07:46:40","slug":"ju-njoftojme-me-semundjet-e-rralla-hiperoksaluria-primare-tip-1","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hiperoksaluria-primare-tip-1\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPEROKSALURIA PRIMARE 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 class=\"western\" lang=\"mk-MK\"><em><strong>Hiperoksaluria primare tip 1\/Primary hyperoxaluria type 1<\/strong><\/em><\/p>\n<p class=\"western\" lang=\"mk-MK\">ICD: E 72. 53<\/p>\n<p class=\"western\" lang=\"mk-MK\">Incidenca: 1\/120.000 n\u00eb vit<\/p>\n<p class=\"western\" lang=\"mk-MK\">Hiperoksaluria primare tip 1 (PH1) \u00ebsht\u00eb forma m\u00eb e zakonshme e hiperoksaluris\u00eb primare. \u00cbsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb e trash\u00ebguar q\u00eb prek kryesisht veshkat. PH1 ndodh n\u00eb nj\u00eb n\u00eb 120.000 lindje dhe transmetohet n\u00eb m\u00ebnyr\u00eb autosomale recesive. Rezulton nga akumulimi i nj\u00eb substance t\u00eb quajtur oksalat, e cila normalisht filtrohet nga veshkat dhe sekretohet n\u00eb urin\u00eb. Te pacient\u00ebt me PH1, oksalati i akumuluar deponohet n\u00eb veshka dhe traktin urinar, lidhet me kalciumin dhe formon nj\u00eb p\u00ebrb\u00ebrje t\u00eb patretshme t\u00eb quajtur oksalat kalciumi. Kjo p\u00ebrb\u00ebrje krijon gur\u00eb n\u00eb veshka dhe traktin urinar.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Simptomat:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">PH1 mund t\u00eb shfaqet n\u00eb \u00e7do mosh\u00eb, por simptomat dhe ashp\u00ebrsia e s\u00ebmundjes ndryshojn\u00eb. Rreth 20% e pacient\u00ebve me PH1 kan\u00eb nj\u00eb form\u00eb t\u00eb r\u00ebnd\u00eb t\u00eb s\u00ebmundjes q\u00eb fillon n\u00eb mosh\u00ebn e foshnjes. N\u00eb t\u00eb kund\u00ebrt, disa pacient\u00eb me PH1 jetojn\u00eb pa asnj\u00eb simptom\u00eb deri n\u00eb mosh\u00ebn 50 vje\u00e7. Mosha mesatare n\u00eb t\u00eb cil\u00ebn fillon s\u00ebmundja \u00ebsht\u00eb rreth 5 vjet.<\/p>\n<p class=\"western\" lang=\"mk-MK\">Shenjat e p\u00ebrfshirjes s\u00eb veshkave mund t\u00eb shkojn\u00eb nga nefrokalcinoza dhe zhvillimi i insuficienc\u00ebs renale n\u00eb mosh\u00ebn e foshnj\u00ebs deri n\u00eb simptoma t\u00eb paskoshme nga gur\u00ebt n\u00eb veshka tek t\u00eb rriturit. Gur\u00ebt n\u00eb veshka zakonisht jan\u00eb shenja e par\u00eb e s\u00ebmundjes. Ata p\u00ebrfshijn\u00eb shfaqjen e papritur t\u00eb dhimbjeve t\u00eb barkut ose ijeve, gjak n\u00eb urin\u00eb, urinim t\u00eb shpesht\u00eb dhe t\u00eb dhimbsh\u00ebm, ethe dhe temperatur\u00eb.<\/p>\n<p class=\"western\" lang=\"mk-MK\">Hiperoksaluria primare e patrajtuar \u00e7on n\u00eb isuficienc\u00eb renale q\u00eb \u00ebsht\u00eb nj\u00eb gjendje e rrezikshme p\u00ebr jet\u00ebn. P\u00ebr shkak se simptomat e s\u00ebmundjes mund t\u00eb shfaqen relativisht von\u00eb dhe t\u00eb shoq\u00ebrohen me komplikime serioze, at\u00ebher\u00eb t\u00eb gjith\u00eb pacient\u00ebt pediatrik me gur\u00eb n\u00eb veshka duhet t\u00eb testohen p\u00ebr PH1. Simptoma t\u00eb tjera t\u00eb PH1 t\u00eb shkaktuara nga akumulimi i oksalatit n\u00eb organet e tjera mund t\u00eb jen\u00eb rritja dhe zhvillimi i ngadalt\u00eb, depozitimi i kalciumit n\u00eb murin e en\u00ebve t\u00eb gjakut, \u00e7rregullim i ritmit t\u00eb zemr\u00ebs, insuficienc\u00eb kardiake, probleme me t\u00eb pamurin, ulja e funksionit t\u00eb tiroides, artrit dhe ndryshime t\u00eb l\u00ebkur\u00ebs. N\u00ebse nuk trajtohet, jet\u00ebgjat\u00ebsia e k\u00ebtyre pacient\u00ebve \u00ebsht\u00eb rreth 20 vjet, dhe shkaku kryesor i vdekjes \u00ebsht\u00eb faza terminale e insuficienc\u00ebs renale.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Etiologjia:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Hiperoksaluria primare tip 1 trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale recesive dhe shkaktohet nga nj\u00eb mutacion n\u00eb gjenin AGXT, i vendosur n\u00eb kromozomin 2q37.3. Kjo do t\u00eb thot\u00eb q\u00eb nj\u00eb person t\u00eb s\u00ebmuret, duhet t\u00eb ket\u00eb mutacione n\u00eb t\u00eb dy kopjet e gjenit AGXT, t\u00eb cilat ai i ka trash\u00ebguar nga t\u00eb dy prind\u00ebrit.<\/p>\n<p class=\"western\" lang=\"mk-MK\">Ky gjen \u00ebsht\u00eb p\u00ebrgjegj\u00ebs p\u00ebr prodhimin e nj\u00eb enzime t\u00eb quajtur alanin\u00eb-glioksalat aminotransferaza, e cila gjendet n\u00eb qelizat e m\u00ebl\u00e7is\u00eb n\u00eb strukturat qelizore t\u00eb quajtura peroksizome. Enzima \u00ebsht\u00eb p\u00ebrgjegj\u00ebse p\u00ebr shnd\u00ebrrimin e p\u00ebrb\u00ebrjes glioksalat n\u00eb aminoacid\u00ebn glicin\u00eb, si kofaktor \u00ebsht\u00eb e nevojshme vitamina B6 (piridoksina). Mutacionet n\u00eb gjenin AGXT \u00e7ojn\u00eb n\u00eb uljen e niveleve ose n\u00eb d\u00ebmtimin e funksionit t\u00eb enzim\u00ebs, duke parandaluar shp\u00ebrb\u00ebrjen e glioksalatit. Kjo rezulton n\u00eb akumulimin e glioksalatit, i cili m\u00eb pas shnd\u00ebrrohet n\u00eb oksalat e jo n\u00eb glicin\u00eb. Oksalati i tep\u00ebrt q\u00eb nuk hiqet nga trupi m\u00eb von\u00eb lidhet me kalciumin dhe formon oksalat kalciumi, nj\u00eb p\u00ebrb\u00ebr\u00ebs kryesor i gur\u00ebve n\u00eb veshka.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Diagnoza:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Diagnostifikimi i nj\u00eb s\u00ebmundjeje gjenetike ose t\u00eb rrall\u00eb \u00ebsht\u00eb shpesh nj\u00eb sfid\u00eb. Diagnoza p\u00ebrcaktohet bazuar n\u00eb historikun e pacientit, ekzaminimin klinik, ekzaminimet laboratorike dhe radiologjike dhe analizat gjenetike. Gjetja m\u00eb e r\u00ebnd\u00ebsishme laboratorike \u00ebsht\u00eb eleminimi i rritur i oksalateve n\u00eb urin\u00eb. Nuk ka teste radiologjike specifike p\u00ebr t\u00eb zbuluar hiperoksalurin\u00eb. Gur\u00ebt e oksalatit t\u00eb kalciumit zbulohen nga tomografia e kompjuterizuar. Nj\u00eb diagnoz\u00eb e sakt\u00eb e PH1 mund t\u00eb b\u00ebhet vet\u00ebm me konfirmimin gjenetik t\u00eb nj\u00eb mutacioni n\u00eb gjenin AGXT ose me analiz\u00ebn e aktivitetit t\u00eb enzim\u00ebs n\u00eb mostr\u00ebn nga biopsia e m\u00ebl\u00e7is\u00eb.<\/p>\n<p class=\"western\" lang=\"mk-MK\"><strong>Trajtimi:<\/strong><\/p>\n<p class=\"western\" lang=\"mk-MK\">Trajtimi i PH1 ka p\u00ebr q\u00ebllim zvog\u00eblimin e prodhimit t\u00eb oksalatit dhe rritjen e eliminimit t\u00eb oksalatit t\u00eb kalciumit. Te 30% t\u00eb pacient\u00ebve, terapia me vitamin\u00eb B6 zvog\u00eblon nivelet e oksalatit n\u00eb plazm\u00eb. N\u00eb m\u00ebnyr\u00eb q\u00eb t\u00eb parandalohet formimi i gur\u00ebve n\u00eb veshkat dhe traktin urinar, \u00ebsht\u00eb e nevojshme t\u00eb konsumohet nj\u00eb sasi t\u00eb madhe e l\u00ebngjeve, terapi me citrat kaliumi, alkalizim t\u00eb urin\u00ebs, suplementin i fosfateve, marrje e kufizuar e vitamin\u00ebs C dhe vitamin\u00ebs D dhe shmangia e disa ila\u00e7eve (p.sh. diuretik\u00eb t\u00eb lakut t\u00eb Henlit). Gur\u00ebt urinar duhet t\u00eb trajtohen nga urolog\u00eb me p\u00ebrvoj\u00eb. Dializa \u00ebsht\u00eb e nevojshme te pacient\u00ebt me PH1 dhe insuficienc\u00eb renale m\u00eb t\u00eb p\u00ebrparuar. Transplantimi i veshkave ose veshkave dhe m\u00ebl\u00e7is\u00eb \u00ebsht\u00eb nj\u00eb trajtim p\u00ebrfundimtar p\u00ebr disa pacient\u00eb me PH1, ve\u00e7an\u00ebrisht tek f\u00ebmij\u00ebt me nj\u00eb form\u00eb t\u00eb hershme t\u00eb s\u00ebmundjes. Lumasiran \u00ebsht\u00eb nj\u00eb terapi m\u00eb e fundit e gjeneve dhe \u00ebsht\u00eb aprovuar p\u00ebr trajtimin e pacient\u00ebve me PH1 nga Administrata e Zbatimit t\u00eb Barnave n\u00eb SHBA.<\/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>Hiperoksaluria primare tip 1\/Primary hyperoxaluria type 1 ICD: E 72. 53 Incidenca: 1\/120.000 n\u00eb vit Hiperoksaluria primare tip 1 (PH1) [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165467,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[56908],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/07-Primary-hyperoxaluria-type-1-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/07-Primary-hyperoxaluria-type-1-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"135","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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