{"id":189571,"date":"2023-02-26T08:21:30","date_gmt":"2023-02-26T07:21:30","guid":{"rendered":"https:\/\/sdk.mk\/?p=189571"},"modified":"2023-02-26T08:21:30","modified_gmt":"2023-02-26T07:21:30","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-johanson-blizzard","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-johanson-blizzard\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA JOHANSON-BLIZZARD"},"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=RMDRhjEkJ7o&amp;list=PLPGcigDEy-qgR2zVetKogPsjWUrslN1gR&amp;index=26\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Sindroma Johanson-Blizzard<\/strong><\/em><\/a><br \/>\nICD: Q87.8<br \/>\nPrevalenca: 1-250. 000 lindje<\/p>\n<p>Sindroma Johansson-Blizzard \u00ebsht\u00eb nj\u00eb \u00e7\u2019rregullim gjenetik jasht\u00ebzakonisht i rrall\u00eb q\u00eb prek sisteme t\u00eb shumta t\u00eb organeve t\u00eb trupit. Shum\u00eb simptoma jan\u00eb t\u00eb pranishme n\u00eb lindje (t\u00eb lindura) ose n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme. Spektri i ve\u00e7orive t\u00eb mundshme dhe gjetjeve fizike t\u00eb lidhura me JBS \u00ebsht\u00eb i gjer\u00eb dhe i larmish\u00ebm dhe mund t\u00eb ndryshoj\u00eb n\u00eb m\u00ebnyr\u00eb dramatike nga personi n\u00eb person.<\/p>\n<p>Megjithat\u00eb, tiparet tipike p\u00ebrfshijn\u00eb p\u00ebrthithjen e pamjaftueshme t\u00eb zorr\u00ebve (keqp\u00ebrthithjen) e yndyr\u00ebs dhe l\u00ebnd\u00ebve t\u00eb tjera ushqyese p\u00ebr shkak t\u00eb zhvillimit jonormal t\u00eb pankreasit (pamjaftueshm\u00ebria e pankreasit), d\u00ebshtimi n\u00eb zhvillim (d\u00ebshtimi i f\u00ebmij\u00ebs p\u00ebr tu zhvilluar) gjat\u00eb viteve t\u00eb para t\u00eb jet\u00ebs q\u00eb kontribuon n\u00eb shtatin e shkurt\u00ebr, dhe anomalit\u00eb e dh\u00ebmb\u00ebve t\u00eb p\u00ebrhersh\u00ebm, anomalit\u00eb karakteristike t\u00eb rajonit t\u00eb kafk\u00ebs dhe fytyr\u00ebs (kraniofaciale), duke p\u00ebrfshir\u00eb nj\u00eb hund\u00eb t\u00eb vog\u00ebl &#8220;n\u00eb form\u00eb sqepi&#8221; dhe shkall\u00eb t\u00eb ndryshme t\u00eb paaft\u00ebsis\u00eb intelektuale.<\/p>\n<p><strong>Shkaku i s\u00ebmundjes:<\/strong><\/p>\n<p>JBS shkaktohet nga mutacionet n\u00eb gjenin UBR1. Ky mutacion gjenetik trash\u00ebgohet si tipar autosomik recesiv.<br \/>\nShenja dhe simptoma:<br \/>\nKarakteristikat dhe gjetjet fizike t\u00eb lidhura me JBS mund t\u00eb ndryshojn\u00eb shum\u00eb nga personi n\u00eb person. \u00cbsht\u00eb e r\u00ebnd\u00ebsishme t\u00eb theksohet se individ\u00ebt e prekur mund t\u00eb mos i ken\u00eb t\u00eb gjitha simptomat e diskutuara m\u00eb posht\u00eb. Sidoqoft\u00eb, pamjaftueshm\u00ebria e pankreasit, anomalit\u00eb dentare dhe nj\u00eb form\u00eb dalluese e hund\u00ebs (n\u00eb form\u00eb sqepi) jan\u00eb t\u00eb pranishme n\u00eb pothuajse t\u00eb gjith\u00eb individ\u00ebt e prekur. Ashp\u00ebrsia e k\u00ebsaj sindrome gjithashtu mund t\u00eb ndryshoj\u00eb dhe disa foshnja mund t\u00eb zhvillojn\u00eb komplikime k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn \u0435 e foshnj\u00ebs. Foshnjat me JBS zakonisht kan\u00eb anomali karakteristike kraniofaciale n\u00eb lindje. Karakteristika m\u00eb e habitshme dhe e q\u00ebndrueshme kraniofaciale e lidhur me k\u00ebt\u00eb sindrom\u00eb \u00ebsht\u00eb nj\u00eb hund\u00eb jasht\u00ebzakonisht e vog\u00ebl q\u00eb duket &#8220;n\u00eb form\u00eb sqepi&#8221; p\u00ebr shkak t\u00eb munges\u00ebs (aplazis\u00eb) ose moszhvillimit (hipoplazis\u00eb) t\u00eb krah\u00ebve t\u00eb hund\u00ebs. P\u00ebrve\u00e7 k\u00ebsaj, disa foshnja t\u00eb prekura mund t\u00eb ken\u00eb nj\u00eb nofull t\u00eb sip\u00ebrme t\u00eb vog\u00ebl, t\u00eb pazhvilluar (hipoplazi maksilare), nj\u00eb mjek\u00ebr t\u00eb vog\u00ebl me maj\u00eb, nj\u00eb buz\u00eb t\u00eb sip\u00ebrme t\u00eb gjat\u00eb e t\u00eb ngusht\u00eb dhe mikrocefali, nj\u00eb gjendje n\u00eb t\u00eb cil\u00ebn perimetri i kok\u00ebs s\u00eb f\u00ebmij\u00ebs \u00ebsht\u00eb m\u00eb i vog\u00ebl se sa pritej p\u00ebr mosh\u00ebn dhe gjinin\u00eb. Disa foshnja t\u00eb prekura mund t\u00eb mos ken\u00eb vrima t\u00eb vogla n\u00eb qoshet e brendshme t\u00eb qepallave ku lot\u00ebt rrjedhin normalisht (punktaplasia lacrimal) me nj\u00eb kalim jonormal q\u00eb bart lot\u00ebt drejtp\u00ebrdrejt nga hapja e brendshme e kalimit t\u00eb hund\u00ebs n\u00eb sip\u00ebrfaqen e l\u00ebkur\u00ebs. \u00c7arje m\u00eb t\u00eb r\u00ebnda t\u00eb fytyr\u00ebs jan\u00eb par\u00eb n\u00eb disa raste, duke p\u00ebrfshir\u00eb \u00e7arje t\u00eb buz\u00ebs dhe qiellz\u00ebs dhe \u00e7arje an\u00ebsore t\u00eb fytyr\u00ebs q\u00eb shtrihen nga zona e hund\u00ebs deri tek qepalla e poshtme. Mungesa e rritjes e lidhur me JBS mund t\u00eb ndodh\u00eb p\u00ebr shkak t\u00eb keqp\u00ebrthithjes dhe pamjaftueshm\u00ebris\u00eb ekzokrine t\u00eb pankreasit. Insuficienca pankreatike \u00ebsht\u00eb nj\u00eb tipar i zakonsh\u00ebm dhe i spikatur i JBS. Pa trajtim, d\u00ebmtimi i pankreasit dhe keqp\u00ebrthithja mund t\u00eb p\u00ebrparojn\u00eb dhe t\u00eb shkaktojn\u00eb komplikime k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn. Pankreasi \u00ebsht\u00eb nj\u00eb gj\u00ebnd\u00ebr e vog\u00ebl e vendosur prapa stomakut. Ai p\u00ebrmban qeliza t\u00eb specializuara ekzokrine q\u00eb sekretojn\u00eb enzima q\u00eb udh\u00ebtojn\u00eb n\u00eb zorr\u00ebt dhe ndihmojn\u00eb n\u00eb tretje. Qelizat pankreatike t\u00eb quajtura &#8220;qeliza acinare&#8221; prodhojn\u00eb enzima t\u00eb tilla tret\u00ebse. N\u00eb JBS, megjithat\u00eb, individ\u00ebve t\u00eb prekur u mungon nj\u00eb num\u00ebr i mjaftuesh\u00ebm i qelizave acinare q\u00eb funksionojn\u00eb si\u00e7 duhet dhe indi pankreatik mund t\u00eb z\u00ebvend\u00ebsohet nga akumulime jonormale t\u00eb yndyr\u00ebs. Si rezultat, ekziston nj\u00eb mang\u00ebsi n\u00eb sasin\u00eb e enzimeve tret\u00ebse t\u00eb nevojshme p\u00ebr zb\u00ebrthimin e ushqimit (insuficienca ekzokrine e pankreasit), e cila nga ana tjet\u00ebr parandalon q\u00eb yndyrnat dhe l\u00ebnd\u00ebt ushqyese t\u00eb tjera thelb\u00ebsore t\u00eb p\u00ebrthithen si\u00e7 duhet (keqabsorbimi) n\u00eb zorr\u00ebt.<\/p>\n<p><strong>Diagnoza:<\/strong><br \/>\nPrania e k\u00ebsaj s\u00ebmundjeje mund t\u00eb dyshohet n\u00eb baz\u00eb t\u00eb pranis\u00eb s\u00eb simptomave karakteristike (p.sh. hund\u00eb karakteristike n\u00eb form\u00eb sqepi, insuficienc\u00eb pankreatike ekzokrine, anomali dentare, defekte t\u00eb kok\u00ebs, shurdhim), vler\u00ebsimi i plot\u00eb klinik dhe historia e detajuar e pacientit. Diagnoza mund t\u00eb konfirmohet p\u00ebrmes testimit gjenetik molekular, i cili mund t\u00eb identifikoj\u00eb mutacionet karakteristike t\u00eb gjenit UBR1 q\u00eb shkaktojn\u00eb \u00e7\u2019rregullimin. Mund t\u00eb b\u00ebhen teste shtes\u00eb p\u00ebr t\u00eb vler\u00ebsuar ashp\u00ebrsin\u00eb e k\u00ebsaj sindrome n\u00eb \u00e7do individ. Teste t\u00eb tilla mund t\u00eb p\u00ebrfshijn\u00eb teste d\u00ebgjimi p\u00ebr t\u00eb p\u00ebrcaktuar pranin\u00eb dhe shkall\u00ebn e humbjes s\u00eb d\u00ebgjimit ose tomografi t\u00eb kompjuterizuar (CT) p\u00ebr t\u00eb p\u00ebrcaktuar shkall\u00ebn e infiltrimit yndyror t\u00eb pankreasit. \u00cbsht\u00eb e r\u00ebnd\u00ebsishme q\u00eb foshnjat dhe f\u00ebmij\u00ebt e prekur t\u00eb ekzaminohen p\u00ebr zhvillimin e komplikimeve potencialisht serioze, duke p\u00ebrfshir\u00eb defektet kongjenitale t\u00eb zemr\u00ebs, hipopituitarizmin, hipotiroidizmin dhe diabetin e t\u00eb miturve.<\/p>\n<p><strong>Mjekimi:<\/strong><br \/>\nTrajtimi i JBS drejtohet n\u00eb simptomat specifike q\u00eb jan\u00eb t\u00eb dukshme n\u00eb \u00e7do individ. Trajtimi mund t\u00eb k\u00ebrkoj\u00eb p\u00ebrpjekjet e koordinuara t\u00eb nj\u00eb ekipi specialist\u00ebsh. Terapit\u00eb specifike t\u00eb trajtimit jan\u00eb simptomatike dhe mb\u00ebshtet\u00ebse. Individ\u00ebt e prekur zakonisht k\u00ebrkojn\u00eb suplemente t\u00eb enzim\u00ebs pankreatike gjat\u00eb gjith\u00eb jet\u00ebs (p.sh. pankreatin\u00eb orale) p\u00ebr t\u00eb nxitur p\u00ebrthithjen e duhur t\u00eb yndyr\u00ebs dhe l\u00ebnd\u00ebve t\u00eb tjera ushqyese thelb\u00ebsore. N\u00eb shum\u00eb raste, suplementet e vitaminave (p.sh. vitaminat e tretshme n\u00eb yndyr\u00eb A, D, E, K) mund t\u00eb p\u00ebrshkruhen gjithashtu p\u00ebr t\u00eb parandaluar ose trajtuar mang\u00ebsit\u00eb e vitaminave q\u00eb mund t\u00eb vijn\u00eb nga keqp\u00ebrthithja p\u00ebr shkak t\u00eb pamjaftueshm\u00ebris\u00eb s\u00eb pankreasit. Mund t\u00eb p\u00ebrshkruhet gjithashtu nj\u00eb diet\u00eb e ve\u00e7ant\u00eb me suplemente proteinash t\u00eb p\u00ebrthithura leht\u00ebsisht (diet\u00eb me hidrolizimin e proteinave) p\u00ebr t\u00eb siguruar q\u00eb t\u00eb plot\u00ebsohen nevojat totale ushqyese t\u00eb individit t\u00eb prekur. Megjith\u00ebse terapi t\u00eb tilla duhet t\u00eb \u00e7ojn\u00eb n\u00eb p\u00ebrthithje t\u00eb p\u00ebrmir\u00ebsuar t\u00eb l\u00ebnd\u00ebve ushqyese dhe shtim t\u00eb pranuesh\u00ebm n\u00eb pesh\u00eb, \u00ebsht\u00eb e r\u00ebnd\u00ebsishme t\u00eb theksohet se shumica e f\u00ebmij\u00ebve t\u00eb prekur do t\u00eb mbeten m\u00eb t\u00eb vegj\u00ebl dhe m\u00eb t\u00eb shkurt\u00ebr se mesatarja p\u00ebr mosh\u00ebn e tyre, sepse shtati i shkurt\u00ebr duket t\u00eb jet\u00eb nj\u00eb nga manifestimet e shumta kryesore t\u00eb JBS. N\u00eb disa raste, anomalit\u00eb e tjera q\u00eb mund t\u00eb lidhen me JBS mund t\u00eb korrigjohen me intervenim kirurgjikal. P\u00ebr shembull, n\u00eb disa raste, krah\u00ebt e hund\u00ebs q\u00eb mungojn\u00eb ose jan\u00eb t\u00eb pazhvilluara mund t\u00eb rind\u00ebrtohen kirurgjikisht. N\u00eb var\u00ebsi t\u00eb ashp\u00ebrsis\u00eb s\u00eb anomalive anale (anusi i paperforuar ose stenoza anale), operacioni mund t\u00eb kryhet p\u00ebr t\u00eb korrigjuar ose rind\u00ebrtuar n\u00eb m\u00ebnyr\u00eb kirurgjikale anusin (anoplastik\u00eb) ose p\u00ebr t\u00eb krijuar nj\u00eb hapje midis zorr\u00ebs s\u00eb trash\u00eb dhe sip\u00ebrfaqes s\u00eb trupit (kolostom\u00eb) p\u00ebr t\u00eb lejuar kalimin e p\u00ebrmbajtjes s\u00eb zorr\u00ebs s\u00eb trash\u00eb. Operacioni mund t\u00eb kryhet gjithashtu p\u00ebr t\u00eb korrigjuar disa anomali gjenitourinare dhe kardiake. Procedurat kirurgjikale t\u00eb kryera do t\u00eb varen nga vendndodhja dhe ashp\u00ebrsia e anomalive anatomike dhe simptomat e tyre shoq\u00ebruese. Anomalit\u00eb dentare q\u00eb ndodhin n\u00eb lidhje me JBS mund t\u00eb trajtohen me an\u00eb t\u00eb aparateve, p\u00ebrdorimit t\u00eb protezave, etj. Humbja e d\u00ebgjimit e lidhur me disa raste t\u00eb JBS mund t\u00eb trajtohet me aparate d\u00ebgjimi. Nd\u00ebrhyrja e hershme \u00ebsht\u00eb e r\u00ebnd\u00ebsishme. Sh\u00ebrbimet e ve\u00e7anta nga t\u00eb cilat mund t\u00eb p\u00ebrfitojn\u00eb f\u00ebmij\u00ebt e prekur mund t\u00eb p\u00ebrfshijn\u00eb edukimin e posa\u00e7\u00ebm p\u00ebrmir\u00ebsues, mb\u00ebshtetjen e ve\u00e7ant\u00eb sociale dhe sh\u00ebrbime t\u00eb tjera mjek\u00ebsore, sociale dhe\/ose profesionale. K\u00ebshillimi gjenetik b\u00ebhet tek individ\u00ebt e prekur dhe familjet e tyre. Njer\u00ebzit me hipotiroidiz\u00ebm kan\u00eb nevoj\u00eb p\u00ebr terapi t\u00eb menj\u00ebhershme p\u00ebr z\u00ebvend\u00ebsimin e hormoneve me tiroksin\u00eb. Sidomos tek foshnjat, \u00ebsht\u00eb e domosdoshme q\u00eb hipotiroidizmi t\u00eb diagnostikohet her\u00ebt dhe t\u00eb trajtohet menj\u00ebher\u00eb. Nj\u00eb terapi e till\u00eb hormonale mund t\u00eb monitorohet dhe rregullohet me kujdes p\u00ebr shkak t\u00eb keqp\u00ebrthithjes s\u00eb lidhur me JBS.<\/p>\n<p>&nbsp;<\/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 Johanson-Blizzard ICD: Q87.8 Prevalenca: 1-250. 000 lindje Sindroma Johansson-Blizzard \u00ebsht\u00eb nj\u00eb \u00e7\u2019rregullim gjenetik jasht\u00ebzakonisht i rrall\u00eb q\u00eb prek sisteme [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":189554,"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\/26-alb-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/26-alb-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"93","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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