{"id":166347,"date":"2022-02-19T08:30:39","date_gmt":"2022-02-19T07:30:39","guid":{"rendered":"https:\/\/sdk.mk\/?p=166347"},"modified":"2022-02-19T08:30:39","modified_gmt":"2022-02-19T07:30:39","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA SILVER-RUSSEL"},"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>Sindroma Silver-Russel\/Silver-Russell syndrome<\/strong><\/em><\/p>\n<p>Prevalenca: 1 &#8211; 9\/1.000.000<\/p>\n<p>ICD &#8211; 10: Q 87.1<\/p>\n<p>Sindroma Silver-Russell \u00ebsht\u00eb nj\u00eb gjendje e rrall\u00eb e lindur e p\u00ebrshkruar p\u00ebr her\u00eb t\u00eb par\u00eb nga pediatri amerikan Dr. Henry Silver dhe endokrinologu anglez Dr. Alexander Russell n\u00eb 1954. Incidenca e k\u00ebtij sindromi vler\u00ebsohet n\u00eb 1 &#8211; 30\/100.000 raste dhe deri m\u00eb tani n\u00eb literatur\u00eb jan\u00eb raportuar rreth 400 raste.<\/p>\n<p><strong>Shkaku:<\/strong><\/p>\n<p>Sindroma \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i shkaktuar nga anomalit\u00eb n\u00eb kromozomin 7 ose kromozomin 11. Shumica e rasteve nuk jan\u00eb t\u00eb trash\u00ebguara, dhe mendohet se jan\u00eb rezultat i mutacioneve spontane. N\u00eb 7 deri n\u00eb 10 % t\u00eb rasteve, njer\u00ebzit trash\u00ebgojn\u00eb t\u00eb dy kopjet e kromozomit 7 nga n\u00ebna e tyre, n\u00eb vend t\u00eb nj\u00eb nga secili prind. Ky fenomen quhet disomi uniparentale. N\u00eb rreth 40 p\u00ebrqind t\u00eb rasteve, shkaku i sindrom\u00ebs \u00ebsht\u00eb i panjohur.<br \/>\nShumica e rasteve jan\u00eb sporadike, q\u00eb ndodhin n\u00eb familje me nj\u00eb histori familjare negative. N\u00eb raste t\u00eb rralla, mund t\u00eb gjendet n\u00eb familjet e prekura nga kjo sindrom\u00eb. Trash\u00ebgimia autosomale dominuese konfirmohet n\u00eb disa familje, dhe trash\u00ebgimia autosomale recesive konfirmohet n\u00eb familje t\u00eb tjera.<\/p>\n<p><strong>Simptomat:<\/strong><\/p>\n<p>N\u00eb lindje, foshnjat jan\u00eb t\u00eb vogla p\u00ebr mosh\u00ebn gestacionale, peshojn\u00eb m\u00eb pak se 2,800 g, dhe zakonisht jan\u00eb t\u00eb gjat\u00eb m\u00eb pak se 45 cm, me nj\u00eb fytyr\u00eb karakteristike t\u00eb vog\u00ebl trek\u00ebndore. Kan\u00eb probleme me ushqyerjen &#8211; f\u00ebmija nuk \u00ebsht\u00eb i interesuar p\u00ebr ushqimin, shpesh refuzon ta b\u00ebj\u00eb k\u00ebt\u00eb, dhe kur ai pranon, at\u00ebher\u00eb b\u00ebhet fjal\u00eb p\u00ebr sasi t\u00eb vogla t\u00eb ushqimit. Zhvillimi i kockave vonon. Hipoglikemia \u00ebsht\u00eb gjithashtu e pranishme, dhe t\u00eb vjellat jan\u00eb t\u00eb zakonshme tek t\u00eb sapolindurit, ve\u00e7an\u00ebrisht gjat\u00eb nat\u00ebs.<\/p>\n<p>Vihet re zbehja ose cianoza e l\u00ebkur\u00ebs, e cila mund t\u00eb jet\u00eb shenj\u00eb e hipoglikemis\u00eb. Karakterizohen nga nj\u00eb pamje trek\u00ebndore e fytyr\u00ebs, nj\u00eb ball\u00eb t\u00eb dal\u00eb, nj\u00eb nofull e poshtme m\u00eb e vog\u00ebl dhe nj\u00eb mjek\u00ebr e theksuar. Fontanella \u00ebsht\u00eb e gjer\u00eb dhe mbyllet m\u00eb von\u00eb, asimetria e trupit \u00ebsht\u00eb e zakonshme, gjithashtu hasen dhe klinodaktilia (lakimi i gishtit), toni m\u00eb i dob\u00ebt i muskujve, humbja e dukshme e yndyr\u00ebs nen l\u00ebkurore, defekte t\u00eb mundshme t\u00eb lindura t\u00eb zemr\u00ebs, skolioza, miopia.<\/p>\n<p>Shumica e t\u00eb s\u00ebmur\u00ebve kan\u00eb inteligjenc\u00eb normale, por mund t\u00eb haset edhe zhvillimi i vonuar i aft\u00ebsive t\u00eb hershme motorike. N\u00eb disa raste, shfaqet puberteti i parakohsh\u00ebm. T\u00eb rriturit me sindrom\u00ebn Silver-Russell jan\u00eb t\u00eb shkurt\u00ebr. Lart\u00ebsia mesatare e burrave t\u00eb prekur \u00ebsht\u00eb rreth 151 cm, dhe lart\u00ebsia mesatare e grave \u00ebsht\u00eb rreth 140 cm. P\u00ebrve\u00e7 k\u00ebtyre, jan\u00eb evidente edhe shenja tjera patologjike t\u00eb sindrom\u00ebs, si p.sh: kriptorkidizmi (vendosja e gabuar e testikujve) zbulohet te djemt\u00eb; hipospadia (hapje atipike e uretr\u00ebs); moszhvillimi i indit t\u00eb penisit; moszhvillimi skrotal; raportet e pasakta t\u00eb trupit dhe gjymtyr\u00ebve; kafka e madhe; prezenca e &#8220;goj\u00ebs s\u00eb krapit&#8221; &#8211; n\u00ebnkupton nj\u00eb goj\u00eb m\u00eb t\u00eb vog\u00ebl me k\u00ebnde t\u00eb ulura; zhvillimi i hersh\u00ebm seksual; qiellza e lart\u00eb (ndonj\u00ebher\u00eb e \u00e7ar\u00eb).<\/p>\n<p><strong>Nd\u00ebrlikimet dhe pasojat:<\/strong><\/p>\n<p>Sindroma Silver-Russell mund t\u00eb \u00e7oj\u00eb n\u00eb zhvillimin e komplikimeve q\u00eb mund t\u00eb shkaktojn\u00eb \u00e7rregullime serioze t\u00eb organeve t\u00eb brendshme ose sistemit endokrin. Prandaj, \u00ebsht\u00eb shum\u00eb e r\u00ebnd\u00ebsishme t\u00eb diagnostikohen dhe trajtohen s\u00ebmundjet shoq\u00ebruese n\u00eb mosh\u00eb t\u00eb hershme. P\u00ebrndryshe, mund t\u00eb ket\u00eb nj\u00eb num\u00ebr nd\u00ebrlikimesh t\u00eb sindrom\u00ebs, t\u00eb tilla si: insuficienca renale, pielonefriti kronik, glomerulonefriti; funksioni jonormal i m\u00eblqis\u00eb; funksioni jonormal i gj\u00ebndr\u00ebs tiroide; insuficienca kardiake.<\/p>\n<p><strong>Diagnostikimi:<\/strong><\/p>\n<p>Diagnoza bazohet kryesisht n\u00eb paraqitjen klinike sepse \u00ebsht\u00eb n\u00eb thelb nj\u00eb sindrom\u00eb q\u00eb \u00ebsht\u00eb s\u00ebmundje kongjenitale heterogjene klinikisht dhe gjenetikisht, n\u00eb t\u00eb cil\u00ebn diagnoza varet nga gjetjet klinike (nuk ka test biologjik specifik, por mund t\u00eb konfirmohet duke zbuluar nj\u00eb anomali molekulare). Shenjat dhe simptomat jan\u00eb m\u00eb t\u00eb theksuara n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme, duke rezultuar n\u00eb diagnostikim m\u00eb t\u00eb v\u00ebshtir\u00eb tek f\u00ebmij\u00ebt m\u00eb t\u00eb m\u00ebdhenj.<br \/>\nDiagnoza k\u00ebrkon pranin\u00eb e tre karakteristikave kryesore, p\u00ebrkat\u00ebsisht pesh\u00ebn e ul\u00ebt n\u00eb lindje, shtatin e shkurt\u00ebr, fytyr\u00ebn trek\u00ebndore dhe tjera shtes\u00eb si makrocefalia relative, klinodaktilia e gishtit t\u00eb pest\u00eb, asimetria skeletore, hipospadia ose hernie inguinale. Sidoqoft\u00eb, tre simptomat kryesore mund t\u00eb mos jen\u00eb gjithmon\u00eb t\u00eb pranishme. Pra, mjek\u00ebt nga disa l\u00ebmi (gjenetist, gastroenterolog, etj.) do t\u00eb p\u00ebrfshihen n\u00eb p\u00ebrcaktimin e diagnoz\u00ebs.<\/p>\n<p>Metoda shtes\u00eb diagnostikuese q\u00eb rekomandohen jan\u00eb: diagnostikim me rreze X; ultratinguj t\u00eb organeve t\u00eb brendshme dhe gj\u00ebndr\u00ebs tiroide; elektrokardiografi; CT dhe MRI; encefalografi.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Sindroma Silver-Russell \u00ebsht\u00eb nj\u00eb nga sindromet e pakta n\u00eb t\u00eb cilat trajtimi mund t\u00eb ndikoj\u00eb ndjesh\u00ebm n\u00eb rrjedh\u00ebn dhe rezultatin e s\u00ebmundjes. Edhe pse k\u00ebta f\u00ebmij\u00eb zakonisht nuk kan\u00eb munges\u00eb t\u00eb hormonit t\u00eb rritjes, dh\u00ebnia e tij mund t\u00eb arrij\u00eb nj\u00eb rritje t\u00eb konsiderueshme n\u00eb lart\u00ebsi. Sidomos, marrja e kalorive duhet t\u00eb kontrollohet p\u00ebr t\u00eb mund\u00ebsuar rritjen dhe zhvillimin normal dhe p\u00ebr t\u00eb parandaluar hipoglikemin\u00eb. Terapia fizike rekomandohet kur haset asimetri e trupit, si dhe n\u00eb deformimet e shtyll\u00ebs kurrizore, por n\u00eb disa raste, procedurat kirurgjikale jan\u00eb t\u00eb nevojshme. Rekomandohen gjithashtu vizita t\u00eb rregullta te nj\u00eb terapist i t\u00eb folurit. E gjith\u00eb kjo mund t\u00eb ndihmoj\u00eb n\u00eb tejkalimin e v\u00ebshtir\u00ebsive n\u00eb zhvillim.<\/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 Silver-Russel\/Silver-Russell syndrome Prevalenca: 1 &#8211; 9\/1.000.000 ICD &#8211; 10: Q 87.1 Sindroma Silver-Russell \u00ebsht\u00eb nj\u00eb gjendje e rrall\u00eb e [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166348,"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\/19-Silver-Russell-syndrome-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/19-Silver-Russell-syndrome-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"492","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: SINDROMA SILVER-RUSSEL - \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-sindroma-silver-russel\/\" \/>\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: SINDROMA SILVER-RUSSEL - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Sindroma Silver-Russel\/Silver-Russell syndrome Prevalenca: 1 &#8211; 9\/1.000.000 ICD &#8211; 10: Q 87.1 Sindroma Silver-Russell \u00ebsht\u00eb nj\u00eb gjendje e rrall\u00eb e [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-19T07:30:39+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/19-Silver-Russell-syndrome-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/19-Silver-Russell-syndrome-1.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: SINDROMA SILVER-RUSSEL - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/#primaryimage\"},\"datePublished\":\"2022-02-19T07:30:39+00:00\",\"dateModified\":\"2022-02-19T07:30:39+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-silver-russel\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\",\"name\":\"Goran Konev\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/166347"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/22"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=166347"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/166347\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/166348"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=166347"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=166347"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=166347"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}