{"id":165527,"date":"2022-02-08T08:54:02","date_gmt":"2022-02-08T07:54:02","guid":{"rendered":"https:\/\/sdk.mk\/?p=165527"},"modified":"2022-02-08T08:54:02","modified_gmt":"2022-02-08T07:54:02","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-hunter","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-hunter\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA HUNTER"},"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\"><em><strong>Sindroma Hunter\/Hunter syndrome (Mucopolysaccharidosis type II)<\/strong><\/em><\/p>\n<p class=\"western\">ICD: E 76.1<\/p>\n<p class=\"western\">Prevalenca: 1-9\/1.000.000<\/p>\n<p class=\"western\">Sindroma Hunter \u00ebsht\u00eb nj\u00eb \u00e7rregullim shum\u00eb i rrall\u00eb, i trash\u00ebguar, gjenetik i shkaktuar nga nj\u00eb munges\u00eb ose mosfunksionim i enzimave. Te sindroma Hunter, trupi nuk ka mjaftuesh\u00ebm enzim\u00eb iduronate-2-sulfataza. Detyra e k\u00ebsaj enzime \u00ebsht\u00eb t\u00eb zb\u00ebrthej\u00eb disa molekula komplekse, dhe n\u00ebse kjo enzim\u00eb nuk \u00ebsht\u00eb e mjaftueshme, molekulat krijohen n\u00eb sasi t\u00eb d\u00ebmshme. Akumulimi i sasive t\u00eb m\u00ebdha t\u00eb k\u00ebtyre substancave t\u00eb d\u00ebmshme p\u00ebrfundimisht shkakton d\u00ebme t\u00eb p\u00ebrhershme, progresive, q\u00eb ndikojn\u00eb n\u00eb pamjen, zhvillimin mendor, funksionimin e organeve dhe aft\u00ebsive fizike.<\/p>\n<p class=\"western\">N\u00eb vitet e para t\u00eb shekullit XX, pediatri gjerman Gertrad H\u00fcrler dhe internisti kanadez Charles A. Hunter ishin t\u00eb par\u00ebt q\u00eb p\u00ebrshkruan nj\u00eb pacient me MPS, \u00e7rregullimet metabolike t\u00eb cil\u00ebt sot mbajn\u00eb emrat e tyre (mucopolysaccharidosis tip 1 (MPS-1) si sindromi H\u00fcrler, mucopolysaccharidosis tip 2 (MPS-2) si sindromi Hunter); mukopolisaharidozave tjera q\u00eb jan\u00eb zbuluar m\u00eb von\u00eb u jan\u00eb caktuar numra dhe eponime q\u00eb lidhen me kronologjin\u00eb dhe origjin\u00ebn e raportuesve t\u00eb tyre.<\/p>\n<p class=\"western\">Sindroma Hunter \u00ebsht\u00eb shum\u00eb m\u00eb i zakonsh\u00ebm tek djemt\u00eb. Gjendja \u00ebsht\u00eb nj\u00eb lloj \u00e7rregullimi metabolik i trash\u00ebguar i quajtur mucopolysaccharidosis (MPS). Sindroma Hunter \u00ebsht\u00eb e njohur edhe si MPS-2.<\/p>\n<p class=\"western\"><strong>Simptomat:<\/strong><\/p>\n<p class=\"western\">Simptomat e sindrom\u00ebs Hunter ndryshojn\u00eb nga t\u00eb lehta n\u00eb t\u00eb r\u00ebnda. Ato nuk jan\u00eb t\u00eb pranishme n\u00eb lindje, por shpesh fillojn\u00eb n\u00eb mosh\u00ebn 2 deri n\u00eb 4 vje\u00e7 me formimin e molekulave t\u00eb d\u00ebmshme. Shenjat dhe simptomat mund t\u00eb p\u00ebrfshijn\u00eb: kok\u00eb t\u00eb madhe; trashje t\u00eb buz\u00ebve; hund\u00eb t\u00eb gjer\u00eb me vrima t\u00eb gj\u00ebra; gjuh\u00eb t\u00eb nxjerr\u00eb jasht\u00eb; z\u00eb t\u00eb thell\u00eb dhe t\u00eb ngjizur; madh\u00ebsi dhe form\u00eb anormale e eshtrave dhe deformime tjera kockore; bark t\u00eb madh, si pasoj\u00eb e organeve t\u00eb brendshme t\u00eb zmadhuara; dijare kronike; lezione t\u00eb l\u00ebkur\u00ebs; nyje t\u00eb ngurta; sjellje agresive; ngecje n\u00eb rritje; zhvillim i vonuar, si\u00e7 jan\u00eb t\u00eb ecurit von\u00eb ose t\u00eb folur t\u00eb vonuar.<\/p>\n<p class=\"western\"><strong>Shkaqet:<\/strong><\/p>\n<p class=\"western\">Sindroma Hunter ndodh kur nj\u00eb kromozom me defekt trash\u00ebgohet nga n\u00ebna te f\u00ebmija. P\u00ebr shkak t\u00eb atij kromozomi me defekt, enzima e nevojshme p\u00ebr t\u00eb shp\u00ebrb\u00ebr\u00eb molekulat komplekse t\u00eb sheqerit mungon ose nuk funksionon. Pa k\u00ebt\u00eb enzim\u00eb, sasi t\u00eb m\u00ebdha t\u00eb k\u00ebtyre molekulave komplekse t\u00eb sheqerit grumbullohen n\u00eb qeliza, gjak dhe ind lidh\u00ebs, duke shkaktuar d\u00ebme t\u00eb p\u00ebrhershme dhe progresive.<\/p>\n<p class=\"western\"><strong>Faktor\u00ebt e rrezikut:<\/strong><\/p>\n<p class=\"western\">Ekzistojn\u00eb dy faktor\u00eb kryesor\u00eb t\u00eb rrezikut p\u00ebr zhvillimin e sindrom\u00ebs Hunter:<\/p>\n<p class=\"western\">1. Historia familjare:<\/p>\n<p class=\"western\">Sindroma Hunter shkaktohet nga nj\u00eb kromozom i d\u00ebmtuar dhe nj\u00eb f\u00ebmij\u00eb duhet t\u00eb trash\u00ebgoj\u00eb at\u00eb kromozom t\u00eb d\u00ebmtuar p\u00ebr ta zhvilluar s\u00ebmundjen. Sindroma Hunter njihet si s\u00ebmundje recesive e lidhur me kromozomin X, q\u00eb do t\u00eb thot\u00eb se grat\u00eb mbartin nj\u00eb kromozom X q\u00eb shkakton d\u00ebm. Por vet\u00eb n\u00ebnat nuk preken nga kjo s\u00ebmundje dhe ndoshta nuk e din\u00eb q\u00eb kan\u00eb k\u00ebt\u00eb kromozom t\u00eb d\u00ebmtuar.<\/p>\n<p class=\"western\">2. Gjinia:<\/p>\n<p class=\"western\">Sindroma Hunter pothuajse gjithmon\u00eb shfaqet tek meshkujt. Vajzat jan\u00eb shum\u00eb m\u00eb pak t\u00eb rrezikuara p\u00ebr t\u00eb zhvilluar s\u00ebmundjen sepse ato trash\u00ebgojn\u00eb dy kromozome X. N\u00ebse nj\u00eb nga kromozomet X \u00ebsht\u00eb i d\u00ebmtuar, kromozomi tjet\u00ebr X normal mund t\u00eb siguroj\u00eb nj\u00eb gjen funksional. N\u00ebse kromozomi X mashkullor \u00ebsht\u00eb i d\u00ebmtuar, nuk ka asnj\u00eb kromozom tjet\u00ebr X normal q\u00eb t\u00eb kompensoj\u00eb problemin.<\/p>\n<p class=\"western\"><strong>Nd\u00ebrlikimet:<\/strong><\/p>\n<p class=\"western\">Nd\u00ebrlikime t\u00eb ndryshme mund t\u00eb ndodhin me sindrom\u00ebn Hunter, n\u00eb var\u00ebsi t\u00eb llojit dhe ashp\u00ebrsis\u00eb s\u00eb s\u00ebmundjes. Ata mund t\u00eb prekin mushk\u00ebrit\u00eb, zemr\u00ebn, nyjet, indin lidh\u00ebs, trurin dhe sistemin nervor.<\/p>\n<p class=\"western\">1. Nd\u00ebrlikime respiratore:<\/p>\n<p class=\"western\">Gjuha e zmadhuar, mishrat e dh\u00ebmb\u00ebve t\u00eb trasha dhe trashja e pasazheve t\u00eb hund\u00ebs dhe trakes\u00eb e b\u00ebjn\u00eb t\u00eb v\u00ebshtir\u00eb frym\u00ebmarrjen. F\u00ebmij\u00ebt shpesh kan\u00eb infeksione kronike t\u00eb veshit dhe sinusit, infeksione t\u00eb frym\u00ebmarrjes dhe pneumoni. Apnea e gjumit \u00ebsht\u00eb nj\u00eb gjendje n\u00eb t\u00eb cil\u00ebn frym\u00ebmarrja nd\u00ebrpritet her\u00eb pas here gjat\u00eb gjumit dhe shpesh \u00ebsht\u00eb e pranishme p\u00ebr shkak t\u00eb ngushtimit t\u00eb rrug\u00ebve t\u00eb frym\u00ebmarrjes.<\/p>\n<p class=\"western\">2. Nd\u00ebrlikimet kardiake:<\/p>\n<p class=\"western\">Trashja e indit t\u00eb zemr\u00ebs mund t\u00eb b\u00ebj\u00eb q\u00eb valvulat e zemr\u00ebs t\u00eb mbyllen gabimisht. Si rezultat, zemra dhe pjes\u00ebt e tjera t\u00eb trupit nuk marrin gjak si\u00e7 duhet. Si\u00e7 s\u00ebmundja p\u00ebrparon, k\u00ebto kondicione shpesh p\u00ebrkeq\u00ebsohen dhe zakonisht rezultojn\u00eb n\u00eb insuficienc\u00eb kardiake. Trashja e indeve gjithashtu mund t\u00eb shkaktoj\u00eb ngushtim t\u00eb aort\u00ebs dhe en\u00ebve t\u00eb tjera t\u00eb gjakut. Kjo, nga ana tjet\u00ebr, mund t\u00eb \u00e7oj\u00eb n\u00eb presion t\u00eb lart\u00eb t\u00eb gjakut dhe ngushtim t\u00eb arterieve n\u00eb mushk\u00ebri.<\/p>\n<p class=\"western\">3. Nd\u00ebrlikimet e indit skeletik dhe lidh\u00ebs:<\/p>\n<p class=\"western\">Akumulimi i molekulave komplekse t\u00eb sheqerit n\u00eb indet lidh\u00ebse rezulton n\u00eb anomali n\u00eb eshtra, nyje dhe ligamente. Kjo zvog\u00eblon rritjen e f\u00ebmij\u00ebve, duke shkaktuar dhimbje dhe keqformime fizike dhe e b\u00ebn t\u00eb v\u00ebshtir\u00eb l\u00ebvizjen. Ngurt\u00ebsia e nyjeve shkaktohet nga \u00ebnjtja e indit lidh\u00ebs dhe parregullsit\u00eb n\u00eb k\u00ebrc dhe kocka. Grupi i anomalive q\u00eb shihen zakonisht n\u00eb eshtrat e njer\u00ebzve me sindrom\u00ebn Hunter quhet dysostosis multiplex. F\u00ebmij\u00ebt me k\u00ebto anomali mund t\u00eb zhvillojn\u00eb vertebra dhe bosht kurrizor me form\u00eb t\u00eb parregullt, si dhe brinj\u00eb, krah\u00eb, gishta, k\u00ebmb\u00eb dhe legen.<\/p>\n<p class=\"western\">4. Nd\u00ebrlikimet e trurit dhe sistemit nervor:<\/p>\n<p class=\"western\">Shum\u00eb probleme neurologjike shkaktohen nga akumulimi i l\u00ebngjeve t\u00eb tep\u00ebrta n\u00eb trurin e pacient\u00ebve me sindrom\u00ebn Hunter. Presioni nga k\u00ebto l\u00ebngje mund t\u00eb \u00e7oj\u00eb n\u00eb dhimbje koke t\u00eb forta, d\u00ebmtim t\u00eb shikimit dhe ndryshim t\u00eb gjendjes mendore t\u00eb pacientit.<\/p>\n<p class=\"western\"><strong>Diagnostikimi:<\/strong><\/p>\n<p class=\"western\">Foshnjat e lindura me sindrom\u00ebn Hunter pothuajse gjithmon\u00eb duken t\u00eb sh\u00ebndetshme n\u00eb lindje. Ndryshimet n\u00eb tiparet e fytyr\u00ebs jan\u00eb shpesh shenja e par\u00eb e dukshme se di\u00e7ka nuk \u00ebsht\u00eb n\u00eb rregull. Sindroma Hunter p\u00ebrparon ngadal\u00eb, dhe shenjat e saj p\u00ebrputhen me nj\u00eb num\u00ebr \u00e7rregullimesh t\u00eb tjera, k\u00ebshtu q\u00eb p\u00ebrcaktimi i nj\u00eb diagnoze p\u00ebrfundimtare k\u00ebrkon m\u00eb shum\u00eb koh\u00eb. Nj\u00eb most\u00ebr e urin\u00ebs mund t\u00eb p\u00ebrdoret p\u00ebr t\u00eb ekzaminuar munges\u00ebn e enzim\u00ebs ose p\u00ebr t\u00eb kontrolluar sasin\u00eb e tep\u00ebrt t\u00eb molekulave komplekse t\u00eb sheqerit t\u00eb lidhura me \u00e7rregullimin, kurse analiza gjenetike mund t\u00eb konfirmoj\u00eb diagnoz\u00ebn.<\/p>\n<p class=\"western\">Amniocenteza (testimi i l\u00ebngut amniotik), ose nj\u00eb most\u00ebr e indit placental (marrja e mostrave t\u00eb villusit korionik), mund t\u00eb v\u00ebrtetoj\u00eb n\u00ebse foshnja e palindur mban nj\u00eb kopje t\u00eb nj\u00eb gjeni t\u00eb d\u00ebmtuar. K\u00ebshillimi gjenetik mund t\u00eb ndihmoj\u00eb prind\u00ebrit me nj\u00eb histori familjare t\u00eb mukopolisaharidoz\u00ebs t\u00eb p\u00ebrcaktojn\u00eb n\u00ebse ata bartin gjenin me mutacion q\u00eb shkakton s\u00ebmundjen.<\/p>\n<p class=\"western\"><strong>Trajtimi:<\/strong><\/p>\n<p class=\"western\">Heqja e bajameve mund t\u00eb hap\u00eb rrug\u00ebt e frym\u00ebmarrjes dhe t\u00eb ndihmoj\u00eb n\u00eb leht\u00ebsimin e apneas gjat\u00eb gjumit. Duke p\u00ebrparuar s\u00ebmundja, indet vazhdojn\u00eb t\u00eb trashen dhe k\u00ebto probleme mund t\u00eb kthehen. Nd\u00ebrlikimet kardiovaskulare, t\u00eb tilla si presioni i lart\u00eb i gjakut, zhurmat e zemr\u00ebs dhe valvulat e zemr\u00ebs, duhet t\u00eb monitorohen nga af\u00ebr.<\/p>\n<p class=\"western\">N\u00ebse pacienti ka probleme serioze kardiovaskulare, mjeku mund t\u00eb rekomandoj\u00eb nd\u00ebrhyrje kirurgjikale t\u00eb valvulave t\u00eb zemr\u00ebs. Fleksibiliteti i nyjeve mund t\u00eb p\u00ebrmir\u00ebsohet me fizioterapi, e cila nuk mund t\u00eb ndaloj\u00eb p\u00ebrparimin, por ndihmon n\u00eb zvog\u00eblimin e ngurt\u00ebsis\u00eb dhe ruajtjen e funksionit. Operacioni mund t\u00eb korrigjoj\u00eb hernin\u00eb, por p\u00ebr shkak t\u00eb dob\u00ebsis\u00eb s\u00eb indit lidh\u00ebs, rezultatet zakonisht nuk jan\u00eb ideale.<\/p>\n<p class=\"western\">Procedura shpesh duhet t\u00eb p\u00ebrs\u00ebritet. Problemet me akumulimin e l\u00ebngjeve dhe indeve rreth trurit dhe palc\u00ebs kurrizore jan\u00eb t\u00eb v\u00ebshtira p\u00ebr t&#8217;u zgjidhur p\u00ebr shkak t\u00eb rreziqeve gjat\u00eb trajtimit t\u00eb k\u00ebtyre pjes\u00ebve t\u00eb trupit. Mjeku mund t\u00eb rekomandoj\u00eb intervenim kirurgjikal p\u00ebr t\u00eb menjanuar l\u00ebngun e tep\u00ebrt ose p\u00ebr t\u00eb hequr indet e grumbulluara. N\u00ebse pacienti ka konvulsione, mund t\u00eb p\u00ebrshkruhen ila\u00e7e antikonvulsante.<\/p>\n<p class=\"western\"><strong>Trajtime t\u00eb reja:<\/strong><\/p>\n<p class=\"western\">Disa trajtime jan\u00eb treguar se kan\u00eb potencial p\u00ebr t\u00eb ngadal\u00ebsuar p\u00ebrparimin e s\u00ebmundjes dhe p\u00ebr t\u00eb zvog\u00ebluar ashp\u00ebrsin\u00eb e saj, por efektet afatgjata nuk dihen.<\/p>\n<p class=\"western\">1. Terapia enzimatike:<\/p>\n<p class=\"western\">Ky trajtim, i miratuar nga Administrata e Ushqimit dhe Barnave, p\u00ebrdor enzima artificiale ose t\u00eb modifikuara gjenetikisht p\u00ebr t\u00eb z\u00ebvend\u00ebsuar enzimat e mang\u00ebta ose t\u00eb d\u00ebmtuara dhe p\u00ebr t\u00eb leht\u00ebsuar simptomat e s\u00ebmundjes. Kjo terapi jepet nj\u00eb her\u00eb n\u00eb jav\u00eb me linj\u00eb intravenoze. N\u00ebse fillohet mjaft her\u00ebt, terapia enzimatike mund t\u00eb parandaloj\u00eb disa nga simptomat e sindrom\u00ebs Hunter. Sidoqoft\u00eb, \u00ebsht\u00eb e paqart\u00eb n\u00ebse p\u00ebrmir\u00ebsimet e v\u00ebrejtura me k\u00ebt\u00eb terapi jan\u00eb mjaft t\u00eb r\u00ebnd\u00ebsishme p\u00ebr t\u00eb rritur cil\u00ebsin\u00eb e jet\u00ebs s\u00eb njer\u00ebzve q\u00eb vuajn\u00eb nga kjo s\u00ebmundje. Reaksione serioze alergjike mund t\u00eb ndodhin gjat\u00eb terapis\u00eb enzimatike. Efekte t\u00eb tjera an\u00ebsore t\u00eb mundshme p\u00ebrfshijn\u00eb dhimbje koke, ethe dhe reaksione t\u00eb l\u00ebkur\u00ebs. Sidoqoft\u00eb, efektet an\u00ebsore mund t\u00eb zvog\u00eblohen me kalimin e koh\u00ebs ose duke p\u00ebrshtatur doz\u00ebn.<\/p>\n<p class=\"western\">2. Transplanti i qelizave staminale:<\/p>\n<p class=\"western\">Kjo procedur\u00eb fut qeliza staminale t\u00eb sh\u00ebndetshme n\u00eb qarkullimin e gjakut n\u00eb trup me shpres\u00ebn se qelizat e reja do t\u00eb prodhojn\u00eb nj\u00eb enzim\u00eb q\u00eb mungon ose \u00ebsht\u00eb jofunksionale. Sidoqoft\u00eb, rezultatet e trajtimit nuk jan\u00eb t\u00eb mjaftueshme dhe nevojiten m\u00eb shum\u00eb k\u00ebrkime.<\/p>\n<p class=\"western\">3. Terapia e gjeneve:<\/p>\n<p class=\"western\">Z\u00ebvend\u00ebsimi i kromozomit p\u00ebrgjegj\u00ebs p\u00ebr prodhimin e enzim\u00ebs q\u00eb mungon mund t\u00eb sh\u00ebroj\u00eb teorikisht sindrom\u00ebn Hunter, por shum\u00eb m\u00eb tep\u00ebr k\u00ebrkime duhen b\u00ebr\u00eb para se t\u00eb ket\u00eb nj\u00eb terapi t\u00eb till\u00eb.<\/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 Hunter\/Hunter syndrome (Mucopolysaccharidosis type II) ICD: E 76.1 Prevalenca: 1-9\/1.000.000 Sindroma Hunter \u00ebsht\u00eb nj\u00eb \u00e7rregullim shum\u00eb i rrall\u00eb, i [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165528,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[56931],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/08-Hunter-syndrome-Mucopolysaccharidosis-type-II-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/08-Hunter-syndrome-Mucopolysaccharidosis-type-II-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"310","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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