{"id":166104,"date":"2022-02-16T08:55:00","date_gmt":"2022-02-16T07:55:00","guid":{"rendered":"https:\/\/sdk.mk\/?p=166104"},"modified":"2022-02-16T08:55:00","modified_gmt":"2022-02-16T07:55:00","slug":"ju-njoftojme-me-semundjet-e-rralla-schimke-displazia-imuno-kockore","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-schimke-displazia-imuno-kockore\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SCHIMKE DISPLAZIA IMUNO-KOCKORE"},"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><em><strong>Schimke displazia imuno-kockore\/Schimke immuno-osseous dysplasia<\/strong><\/em><\/p>\n<p>ICD \u2013 10: Q 77.7<\/p>\n<p>Prevalenca: &lt; 1\/1.000.000<\/p>\n<p>Schimke &#8211; Displazia imuno-kockore u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb nga Dr. Robert Neil Schimke n\u00eb 1971. Fillimisht u karakterizua si nj\u00eb \u00e7rregullim me shtat t\u00eb shkurt\u00ebr disproporcional, sindrom\u00eb nefrotike, limfopeni dhe imunitet qelizor t\u00eb d\u00ebmtuar. S\u00ebmundja Shimke \u00ebsht\u00eb shum\u00eb e rrall\u00eb. Rreth 50 raste jan\u00eb raportuar n\u00eb literatur\u00eb deri m\u00eb tani, pa ndonj\u00eb predispozit\u00eb t\u00eb dukshme gjinore, etnike ose gjeografike. N\u00eb Amerik\u00ebn e Veriut, prevalenca vler\u00ebsohet n\u00eb 1 n\u00eb 1 &#8211; 3 milion lindje t\u00eb gjalla.<\/p>\n<p><strong>Simptomat:<\/strong><\/p>\n<p>Rritja e ul\u00ebt ndodh p\u00ebr shkak t\u00eb ngjeshjes t\u00eb rruazave q\u00eb \u00e7on n\u00eb shkurtimin e qaf\u00ebs dhe trupit. Lart\u00ebsia e t\u00eb rriturve \u00ebsht\u00eb 136 &#8211; 157 cm p\u00ebr burrat, dhe 98.5 &#8211; 143 cm p\u00ebr grat\u00eb. S\u00ebmundja renale paraqitet me sindrom\u00ebn nefrotike progresive kortikorezistente dhe shpesh \u00e7on n\u00eb insuficienc\u00eb renale dhe nevoj\u00eb p\u00ebr transplant. Zakonisht, shenjat e para t\u00eb s\u00ebmundjes s\u00eb veshkave jan\u00eb proteinuria dhe hipertensioni.<br \/>\nN\u00eb sistemin imunitar, defekti \u00ebsht\u00eb n\u00eb imunitetin qelizor &#8211; nuk ka qeliza T t\u00eb mjaftueshme. K\u00ebto qeliza jan\u00eb t\u00eb r\u00ebnd\u00ebsishme n\u00eb identifikimin e substancave t\u00eb huaja dhe n\u00eb mbrojtjen kund\u00ebr infeksionit. Si rezultat i k\u00ebsaj mang\u00ebsie, incidenca e infeksioneve k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn \u00ebsht\u00eb e madhe, gjithashtu shfaqen shpesh edhe s\u00ebmundjet autoimune.<\/p>\n<p>Manifestimet m\u00eb t\u00eb zakonshme jan\u00eb lordoza (lakimi i theksuar i shpin\u00ebs s\u00eb poshtme), njolla t\u00eb err\u00ebta n\u00eb l\u00ebkur\u00eb (hiperpigmentime) zakonisht n\u00eb gjoks dhe shpin\u00eb, hund\u00eb me baz\u00eb t\u00eb gj\u00ebr\u00eb me maj\u00eb bulboze.<br \/>\nM\u00eb rrall\u00eb haset akumulim i depozitave yndyrore ose indeve fibroze n\u00eb murin e arteries (arterioskleroza), ishemia cerebrale, kok\u00ebdhimbje migrenoze, ulje e aktivitetit t\u00eb tiroides (hipotiroidiz\u00ebm), ulje e numrit t\u00eb limfociteve (limfopeni), enteropati, anemi normocitike ose mikrocitike, legen hipoplastik, mikrocefali, azoospermi te meshkujt dhe menstruacione t\u00eb parregullta te pacient\u00ebt femra. N\u00eb raste t\u00eb r\u00ebnda, simptomat e s\u00ebmundjes jan\u00eb t\u00eb pranishme q\u00eb nga lindja. N\u00eb ato m\u00eb t\u00eb buta, simptomat shfaqen m\u00eb von\u00eb n\u00eb f\u00ebmij\u00ebri.<\/p>\n<p><strong>Tiparet fizike:<\/strong><\/p>\n<p>Shumica e personave t\u00eb prekur kan\u00eb tipare t\u00eb ve\u00e7anta fizike. K\u00ebto p\u00ebrfshijn\u00eb flok\u00eb t\u00eb holl\u00eb (60%), buz\u00eb t\u00eb holl\u00eb t\u00eb sip\u00ebrme, hund\u00eb me rr\u00ebnj\u00eb t\u00eb thell\u00eb dhe t\u00eb gjer\u00eb (68%), maj\u00eb bulboze t\u00eb hund\u00ebs (83%) dhe rritje t\u00eb ul\u00ebt disproporcionale (98%). Karakteristikat shtes\u00eb p\u00ebrfshijn\u00eb lordoz\u00ebn lumbare (84%), barkun e fryr\u00eb dhe njollat e hiperpigmentuara (85%) n\u00eb trup dhe her\u00eb pas here n\u00eb qaf\u00eb, fytyr\u00eb, krah\u00eb dhe k\u00ebmb\u00eb.<\/p>\n<p><strong>Diagnoza:<\/strong><\/p>\n<p>Diagnoza bazohet n\u00eb nj\u00eb vler\u00ebsim t\u00eb kujdessh\u00ebm klinik, biokimik dhe radiologjik me osteopenin\u00eb, rruaza kurrizore me form\u00eb vezore dhe t\u00eb ngjeshura, koka hipoplastike t\u00eb femurit dhe acetabulume hipoplastike si karakteristika tipike radiografike. Testimi molekular mund t\u00eb b\u00ebhet p\u00ebr t\u00eb konfirmuar diagnoz\u00ebn.<\/p>\n<p><strong>Etiologjia:<\/strong><\/p>\n<p>S\u00ebmundja Schimke shkaktohet nga mutacionet n\u00eb gjenin SMARCAL-1 q\u00eb kodon protein\u00ebn p\u00ebrgjegj\u00ebse p\u00ebr rimodelimin e kromatin\u00ebs n\u00eb kromozome.<\/p>\n<p><strong>Trash\u00ebgimia:<\/strong><br \/>\nMutacionet e gjenit SMARKAL-1 trash\u00ebgohen n\u00eb m\u00ebnyr\u00eb autosomale recesive, q\u00eb do t\u00eb thot\u00eb se rreziku i s\u00ebmundjes \u00ebsht\u00eb m\u00eb i lart\u00eb n\u00ebse mutacionet jan\u00eb t\u00eb pranishme n\u00eb t\u00eb dy kopjet e gjenit SMARKAL-1 n\u00eb secil\u00ebn qeliz\u00eb. Secili prind i personave me s\u00ebmundje autosomale recesive, bart nj\u00eb kopje t\u00eb gjenit t\u00eb mutuar, por ata zakonisht nuk tregojn\u00eb shenja t\u00eb s\u00ebmundjes. \u00cbsht\u00eb e nevojshme t\u00eb ofrohet k\u00ebshillim gjenetik p\u00ebr personat q\u00eb jan\u00eb bart\u00ebs ose jan\u00eb n\u00eb rrezik p\u00ebr t\u00eb qen\u00eb bart\u00ebs t\u00eb mutacionit, p\u00ebrfshir\u00eb diskutimin e rreziqeve t\u00eb mundshme p\u00ebr pasardh\u00ebsit dhe opsionet e riprodhimit. Diagnoza prenatale \u00ebsht\u00eb e mundur kur varianti patogjenik \u00ebsht\u00eb identifikuar m\u00eb par\u00eb te nj\u00eb an\u00ebtar i familjes.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>P\u00ebr shkak se s\u00ebmundja prek m\u00eb shum\u00eb sisteme organesh, menaxhimi i pacientit duhet t\u00eb jet\u00eb multidisiplinar. P\u00ebr pacient\u00ebt me insuficienc\u00eb renale terminale, transplanti i veshkave \u00ebsht\u00eb terapia e zgjedhur. P\u00ebr shkak t\u00eb imunodeficienc\u00ebs, terapia imunosupresive pas transplantimit t\u00eb veshkave shoq\u00ebrohet me nj\u00eb rrezik p\u00ebr infeksione t\u00eb r\u00ebnda oportuniste. P\u00ebr imunodeficienc\u00ebn dhe anomalit\u00eb e tjera hematologjike, transplanti i palc\u00ebs s\u00eb kockave \u00ebsht\u00eb trajtimi i zgjedhur.<\/p>\n<p><strong>Prognoza:<\/strong><\/p>\n<p>Shumica e pacient\u00ebve p\u00ebrfundojn\u00eb fatalisht n\u00eb f\u00ebmij\u00ebri ose adoleshenc\u00eb t\u00eb hershme. Pacient\u00ebt me forma m\u00eb t\u00eb buta dhe fillim t\u00eb von\u00eb t\u00eb s\u00ebmundjes mund t\u00eb jetojn\u00eb deri n\u00eb mosh\u00ebn madhore. N\u00eb shumic\u00ebn e pacient\u00ebve, jet\u00ebgjat\u00ebsia \u00ebsht\u00eb e kufizuar n\u00eb f\u00ebmij\u00ebrin\u00eb ose adoleshenc\u00ebn e hershme, p\u00ebr shkak t\u00eb goditjes n\u00eb tru, infeksioneve, insuficienc\u00ebs s\u00eb palc\u00ebs kockore dhe asaj renale. Mbijetesa deri n\u00eb pjekuri \u00ebsht\u00eb raportuar tek pacient\u00ebt me forma m\u00eb t\u00eb lehta dhe t\u00eb m\u00ebvonshme t\u00eb s\u00ebmundjes dhe menaxhim t\u00eb suksessh\u00ebm t\u00eb manifestimeve renale.<\/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>Schimke displazia imuno-kockore\/Schimke immuno-osseous dysplasia ICD \u2013 10: Q 77.7 Prevalenca: &lt; 1\/1.000.000 Schimke &#8211; Displazia imuno-kockore u p\u00ebrshkrua p\u00ebr [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166105,"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\/2022\/02\/16-Schimke-immuno-osseous-dysplasia-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/16-Schimke-immuno-osseous-dysplasia-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"47","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 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SCHIMKE DISPLAZIA IMUNO-KOCKORE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-schimke-displazia-imuno-kockore\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SCHIMKE DISPLAZIA IMUNO-KOCKORE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Schimke displazia imuno-kockore\/Schimke immuno-osseous dysplasia ICD \u2013 10: Q 77.7 Prevalenca: &lt; 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