{"id":166637,"date":"2022-02-23T08:55:13","date_gmt":"2022-02-23T07:55:13","guid":{"rendered":"https:\/\/sdk.mk\/?p=166637"},"modified":"2022-02-23T08:55:13","modified_gmt":"2022-02-23T07:55:13","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-bekvit-vidman","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-bekvit-vidman\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA BEKVIT-VIDMAN"},"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 lang=\"mk-MK\"><em><strong>Sindroma Bekvit-Vidman\/Beckwith-Wiedemannsyndrome (BWS)<\/strong><\/em><\/p>\n<p lang=\"mk-MK\">MKB: Q 87.3<\/p>\n<p lang=\"mk-MK\">Prevalenca: 1-5\/10.000<\/p>\n<p lang=\"mk-MK\">Sindroma Bekvit &#8211; Vidman (BWS) \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i karakterizuar nga rritj\u0430 e tep\u00ebrt, nj\u00eb pre dispozicion p\u00ebr zhvillimin e tumorit dhe keq formime kongjenitale. Ashp\u00ebrsia e k\u00ebtij \u00e7rregullimi tek f\u00ebmij\u00ebt ndryshon dhe zakonisht njihet q\u00eb n\u00eb lindje. Q\u00eb n\u00eb vitin 1963, patologu amerikan Bekvit p\u00ebrshkroi rastin e par\u00eb t\u00eb citomegalovirusit t\u00eb theksuar t\u00eb korteksit adrenal me hiperplazi t\u00eb veshkave dhe pankreasit, i cili shoq\u00ebrohej me hiperplazi t\u00eb qelizave Leydig. Pediatri gjerman Vidman plot\u00ebsoi tablon\u00eb klinike t\u00eb s\u00ebmundjes s\u00eb re duke shtuar hernien e k\u00ebrthiz\u00ebs dhe sindrominmakroglosiakon. SindromaBekvit &#8211; Vidman diagnostikohet n\u00eb 1 n\u00eb 10.500 deri n\u00eb 13.700 t\u00eb porsalindur n\u00eb mbar\u00eb bot\u00ebn, me nj\u00eb incidenc\u00eb af\u00ebrsisht t\u00eb barabart\u00eb si tek djemt\u00eb ashtu edhe tek vajzat. Megjithat\u00eb, incidenca e s\u00ebmundjes mund t\u00eb jet\u00eb m\u00eb e lart\u00eb sepse n\u00eb rastet me simptoma t\u00eb lehta, s\u00ebmundja rrall\u00eb mund t\u00eb diagnostikohet.<\/p>\n<p lang=\"mk-MK\"><strong>Gjenetika e sindrom\u00ebs Bekvit-Vidman:<\/strong><\/p>\n<p lang=\"mk-MK\">Ekzistojn\u00eb disa shkaqe gjenetike t\u00eb njohura t\u00eb sindrom\u00ebs Bekvit-Vidman, t\u00eb cilat vijn\u00eb nga ndryshimet n\u00eb shprehjen e nj\u00eb ose m\u00eb shum\u00eb gjeneve n\u00eb rajonin 11p15 t\u00eb kromozomit 11. Shkaqet gjenetike t\u00eb k\u00ebsaj sindrome jan\u00eb komplekse. Rrall\u00ebher\u00eb, sindroma Bekvit-Vidman shkaktohet nga ndryshimet gjenetike n\u00eb gjenin CDKN1C. Ky gjen kodon nj\u00eb protein\u00eb q\u00eb kontrollon rritjen e qelizave, k\u00ebshtu q\u00eb n\u00ebse kjo protein\u00eb nuk funksionon si\u00e7 duhet, qelizat mund t\u00eb rriten shum\u00eb.<\/p>\n<p lang=\"mk-MK\"><strong>Trash\u00ebgimia e sindrom\u00ebs Bekvit-Vidman:<\/strong><\/p>\n<p lang=\"mk-MK\">N\u00eb rreth 85% t\u00eb rasteve me sidrom\u00ebn Bekvit-Vidman, vet\u00ebm nj\u00eb rast i s\u00ebmundjes diagnostikohet n\u00eb familje. Megjithat\u00eb, prind\u00ebrit e nj\u00eb f\u00ebmije me k\u00ebt\u00eb sindrom\u00eb mund t\u00eb ken\u00eb nj\u00eb rrezik t\u00eb shtuar t\u00eb p\u00ebrs\u00ebritjes s\u00eb s\u00ebmundjes n\u00eb \u00e7do form\u00eb t\u00eb shtatz\u00ebnive t\u00eb m\u00ebvonshme, n\u00eb var\u00ebsi t\u00eb baz\u00ebs gjenetike t\u00eb s\u00ebmundjes.<\/p>\n<p lang=\"mk-MK\">Pjesa e mbetur prej 10 &#8211; 15% e rasteve jan\u00eb familjare dhe vijn\u00eb nga familje ku ka t\u00eb pakt\u00ebn nj\u00eb rast. N\u00eb shumic\u00ebn e k\u00ebtyre familjeve, s\u00ebmundja me siguri trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale, me nj\u00eb shkall\u00eb t\u00eb p\u00ebrs\u00ebritjes prej 50% (1 n\u00eb 2) p\u00ebr \u00e7do shtatz\u00ebni. N\u00eb shumic\u00ebn e rasteve b\u00ebhet fjal\u00eb p\u00ebr nj\u00eb ndryshim gjenetik n\u00eb gjenin CDKN1C q\u00eb trash\u00ebgohet nga n\u00ebna (gjeni i trash\u00ebguar nga babai, natyrisht, inaktivizohet nga metilimi ose ngulitja).<\/p>\n<p lang=\"mk-MK\">Rrall\u00ebher\u00eb, sindroma \u00ebsht\u00eb rezultat i nj\u00eb ndryshimi strukturor n\u00eb kromozomin 11. Disa nga k\u00ebto ndryshime jan\u00eb aksidentale dhe disa jan\u00eb t\u00eb trash\u00ebguara nga nj\u00eb prind. N\u00ebse ato jan\u00eb t\u00eb trash\u00ebguara, at\u00ebher\u00eb ekziston nj\u00eb rrezik i caktuar p\u00ebr t&#8217;u p\u00ebrs\u00ebritur n\u00eb shtatz\u00ebnin\u00eb e ardhshme.<\/p>\n<p lang=\"mk-MK\"><strong>Pamja klinike:<\/strong><\/p>\n<p lang=\"mk-MK\">Pamja klinike tregon nj\u00eb makrosomi karakteristike pas lindjes (pesha m\u00eb e madhe e t\u00eb porsalindurit n\u00eb lindje) dhe k\u00ebta f\u00ebmij\u00eb jan\u00eb m\u00eb t\u00eb gjat\u00eb se moshatar\u00ebt e tyre. Rritja ngadal\u00ebsohet rreth mosh\u00ebs 8 vje\u00e7are. Disa mund t\u00eb ken\u00eb rritje jonormale vet\u00ebm n\u00eb nj\u00ebr\u00ebn an\u00eb t\u00eb trupit. Kjo gjendje e pazakont\u00eb, hemihiperplazia, zakonisht b\u00ebhet m\u00eb pak e theksuar me kalimin e mosh\u00ebs. Shumica e f\u00ebmij\u00ebve kan\u00eb nj\u00eb defekt n\u00eb murin e barkut (omfalocele, hernie k\u00ebrthiz\u00ebs). Ekziston edhe makroglosia (gjuha e zmadhuar), e cila mund t\u00eb shkaktoj\u00eb probleme me frym\u00ebmarrjen, g\u00eblltitjen dhe t\u00eb folurit, dhe organet abdominale anormalisht t\u00eb m\u00ebdha &#8211; visceromegalia (m\u00ebl\u00e7ia, veshkat dhe pankreasi).<\/p>\n<p lang=\"mk-MK\">F\u00ebmij\u00ebt me k\u00ebt\u00eb sindrom\u00eb k\u00ebrkojn\u00eb trajtim t\u00eb m\u00ebtejsh\u00ebm sepse kan\u00eb nj\u00eb rrezik n\u00eb rritje t\u00eb zhvillimit t\u00eb tumorit t\u00eb vilmasov dhe hepatoblastom\u00ebs. Tumoret zhvillohen n\u00eb rreth 10% t\u00eb pacient\u00ebve dhe ndodhin pothuajse gjithmon\u00eb n\u00eb f\u00ebmij\u00ebri. Hipoglikemia (sheqeri i ul\u00ebt n\u00eb gjak) ndodh brenda disa dit\u00ebsh ose muajsh t\u00eb jet\u00ebs dhe i p\u00ebrgjigjet mir\u00eb terapis\u00eb me diazoksid. Keq formimet kardiake gjenden n\u00eb 9 deri n\u00eb 34% t\u00eb rasteve dhe af\u00ebrsisht gjysma kan\u00eb kardiomegali.<\/p>\n<p lang=\"mk-MK\">Diagnoza vendoset n\u00eb baz\u00eb t\u00eb pamjes klinike d.m.th. kur f\u00ebmija ka t\u00eb gjitha ose disa nga tiparet e sindrom\u00ebs, dhe konfirmohet nga analiza gjenetike.<\/p>\n<p lang=\"mk-MK\"><strong>Mjekimi:<\/strong><\/p>\n<p lang=\"mk-MK\">Rekomandohen kontrolle t\u00eb rregullta p\u00ebr t\u00eb zbuluar sa m\u00eb shpejt zhvillimin e kancerit t\u00eb mundsh\u00ebm. Ekografia e barkut duhet t\u00eb b\u00ebhet \u00e7do tre muaj deri n\u00eb mosh\u00ebn 7 vje\u00e7. N\u00eb mosh\u00ebn 4 vje\u00e7are, ekografia duhet t\u00eb p\u00ebrfshij\u00eb ekzaminime t\u00eb m\u00ebl\u00e7is\u00eb, veshkave dhe organeve t\u00eb tjera t\u00eb brendshme. Rreziku i zhvillimit t\u00eb hepatoblastom\u00ebs reduktohet ndjesh\u00ebm tek f\u00ebmij\u00ebt m\u00eb t\u00eb vjet\u00ebr se 4 vje\u00e7, k\u00ebshtu q\u00eb ekzaminimet e mbetura me ultratinguj mund t\u00eb fokusohen ve\u00e7an\u00ebrisht n\u00eb veshkat (ekografia e veshkave), ku p\u00ebrfshihen edhe gj\u00ebndrat mbi veshkor\u00eb. Ekografia e barkut \u00ebsht\u00eb e sigurt dhe pa dhimbje dhe nuk p\u00ebrfshin p\u00ebrdorimin e rrezatimit.<\/p>\n<p lang=\"mk-MK\">Niveli i alfa-fetoprotein\u00ebs n\u00eb gjak duhet t\u00eb matet \u00e7do tre muaj deri n\u00eb vitin e 4 t\u00eb jet\u00ebs. Kjo protein\u00eb lirohet nga qelizat e papjekura ose t\u00eb d\u00ebmtuara t\u00eb m\u00ebl\u00e7is\u00eb, dhe n\u00eb p\u00ebrqendrime t\u00eb larta lirohet edhe nga qelizat tumorale t\u00eb hepatoblastom\u00ebs. Kjo \u00ebsht\u00eb nj\u00eb m\u00ebnyr\u00eb jasht\u00ebzakonisht e ndjeshme p\u00ebr t\u00eb zbuluar k\u00ebt\u00eb kancer. Nevojitet nj\u00eb qasje multi-disiplinare n\u00eb trajtimin e f\u00ebmij\u00ebve me k\u00ebt\u00eb sindrom\u00eb dhe mund t\u00eb p\u00ebrfshij\u00eb: ortopedi, kirurgji plastike, endokrinologji dhe nevoja shtes\u00eb t\u00eb bazuara n\u00eb vler\u00ebsimet klinike.<\/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 Bekvit-Vidman\/Beckwith-Wiedemannsyndrome (BWS) MKB: Q 87.3 Prevalenca: 1-5\/10.000 Sindroma Bekvit &#8211; Vidman (BWS) \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i karakterizuar nga [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166638,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_mo_disable_npp":"no","inline_featured_image":false,"footnotes":""},"categories":[3087],"tags":[],"class_list":["post-166637","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-maqedonia"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - 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