{"id":187880,"date":"2023-02-05T12:00:40","date_gmt":"2023-02-05T11:00:40","guid":{"rendered":"https:\/\/sdk.mk\/?p=187880"},"modified":"2023-02-05T12:00:40","modified_gmt":"2023-02-05T11:00:40","slug":"ju-njoftojme-me-semundjet-e-rralla-sindromi-tarner","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindromi-tarner\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMI TARNER"},"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>Sindromi Tarner\/Turner Syndrome<\/strong><\/em><\/p>\n<p>ICD Q96<\/p>\n<p>Prevalenca: 1-5\/10.000<\/p>\n<p>Sindroma Turner \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb kromozomik q\u00eb prek femrat. \u00c7rregullimi karakterizohet nga mungesa e plot\u00eb ose e pjesshme e nj\u00ebrit prej kromozomeve X. Sindroma \u00ebsht\u00eb shum\u00eb e ndryshueshme dhe pasqyra klinike e dy individ\u00ebve t\u00eb prekur mund t\u00eb ndryshoj\u00eb n\u00eb m\u00ebnyr\u00eb dramatike. Simptomatologjia p\u00ebrfshin: shtatin e shkurt\u00ebr, insuficienc\u00ebn e parakohshme t\u00eb vezoreve dhe rrjedhimisht pamund\u00ebsin\u00eb p\u00ebr t\u00eb hyr\u00eb n\u00eb pubertet. Shumica e grave jan\u00eb infertile sepse n\u00eb vend t\u00eb organeve riprodhuese, ato kan\u00eb ind lidh\u00ebs. Anomali t\u00eb tjera shfaqen n\u00eb sy, vesh\u00eb, skelet, zem\u00ebr dhe veshka. Inteligjenca \u00ebsht\u00eb zakonisht normale me disa v\u00ebshtir\u00ebsi n\u00eb t\u00eb m\u00ebsuar. Sindroma mund t\u00eb diagnostikohet &#8220;in utero&#8221;, pas lindjes ose n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme. Ndonj\u00ebher\u00eb edhe tek individ\u00ebt e rritur kjo s\u00ebmundje mund t\u00eb zbulohet rast\u00ebsisht. N\u00eb shumic\u00ebn e rasteve, s\u00ebmundja nuk \u00ebsht\u00eb e trash\u00ebguar por shfaqet n\u00eb m\u00ebnyr\u00eb sporadike. Sindroma mban emrin e Dr Henry Turner, i cili n\u00eb vitin 1938 e prezantoi p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb literatur\u00ebn mjek\u00ebsore dhe konsiderohet si nj\u00eb nga \u00e7rregullimet kromozomale m\u00eb t\u00eb zakonshme n\u00eb p\u00ebrgjith\u00ebsi, dhe ndoshta \u00e7rregullimi gjenetik m\u00eb i zakonsh\u00ebm tek grat\u00eb.<\/p>\n<p><strong>Shkaqet:<\/strong><\/p>\n<p>Tek grat\u00eb me sindrom\u00ebn Turner, nj\u00ebrit nga dy kromozomet X i mungon nj\u00eb pjes\u00eb ose mungon i gjith\u00eb kromozomi X. Arsyet e mutacionit nuk dihen dhe m\u00eb s\u00eb shpeshti ndodh \u201cde novo\u201d, si pasoj\u00eb e nj\u00eb gabimi n\u00eb ndarjen e materialit gjenetik t\u00eb prind\u00ebrve.<\/p>\n<p><strong>Shenjat dhe simptomat:<\/strong><\/p>\n<p>Shumica e simptomave jan\u00eb jo specifike dhe t\u00eb tjerat mund t\u00eb zhvillohen gradualisht me kalimin e koh\u00ebs ose t\u00eb jen\u00eb subtile. Jo \u00e7do individ i ka t\u00eb gjitha simptomat e p\u00ebrmendura. Pothuajse t\u00eb gjitha grat\u00eb me k\u00ebt\u00eb sindrom\u00eb jan\u00eb me gjat\u00ebsi trupore n\u00ebn mesataren. Vitet e para t\u00eb jet\u00ebs, rritja \u00ebsht\u00eb normale dhe m\u00eb pas zvog\u00eblohet gradualisht, k\u00ebshtu q\u00eb n\u00eb pubertet mungon p\u00ebrshpejtimi i rritjes. Nj\u00eb tipar tjet\u00ebr i r\u00ebnd\u00ebsish\u00ebm i s\u00ebmundjes \u00ebsht\u00eb disgjeneza gonadale &#8211; zhvillimi i parregullt i vezoreve, dhe p\u00ebr k\u00ebt\u00eb arsye shumica e femrave (p\u00ebr shkak t\u00eb munges\u00ebs s\u00eb hormoneve seksuale t\u00eb sekretuara nga vezoret, estrogjenit dhe progesteronit) do t\u00eb ken\u00eb nevoj\u00eb p\u00ebr terapi z\u00ebvend\u00ebsuese t\u00eb hormoneve p\u00ebr zhvillim normal trupor (fillimi i pubertetit, karakteristikat sekondare seksuale, gjinjt\u00eb, zhvillimi i kockave, menarka). Te disa individ\u00eb, k\u00ebto tipare mund t\u00eb fillojn\u00eb spontanisht edhe pa terapi hormonale, por p\u00ebr fat t\u00eb keq n\u00eb shumic\u00ebn e tyre zhvillimi do t\u00eb ndalet, si dhe cikli menstrual. Zakonisht t\u00eb s\u00ebmur\u00ebt kan\u00eb inteligjenc\u00eb normale, por do t\u00eb ken\u00eb v\u00ebshtir\u00ebsi t\u00eb kuptojn\u00eb lidhjet vizuale-hap\u00ebsinore, orientimin majtas dhe djathtas, m\u00ebsimin e matematik\u00ebs, kujtes\u00ebn joverbale, interaksionet sociale. Pamja e tyre fizike karakterizohet nga nj\u00eb qaf\u00eb e shkurt\u00ebr e rrudhosur, vij\u00eb t\u00eb ul\u00ebt t\u00eb flok\u00ebve n\u00eb zverk, vesh\u00eb t\u00eb vendosura posht\u00eb, thonj t\u00eb vegj\u00ebl e t\u00eb ngusht\u00eb t\u00eb duarve dhe k\u00ebmb\u00ebve q\u00eb rriten p\u00ebrpjet\u00eb, gjoks i gjer\u00eb me thithka t\u00eb ndara, duar dhe k\u00ebmb\u00eb t\u00eb \u00ebnjtura dhe t\u00eb fryra p\u00ebr shkak t\u00eb limfedem\u00ebs. P\u00ebrve\u00e7 k\u00ebsaj, hasen edhe: nofulla e t\u00ebrhequr, strabizmi, ambliopia, r\u00ebnia e qepallave etj. Manifestohen edhe keqformime skeletore, duke p\u00ebrfshir\u00eb kockat e shkurtra t\u00eb duarve dhe k\u00ebmb\u00ebt e sheshta, kurse skolioza shfaqet n\u00eb 10% t\u00eb rasteve. Anomalit\u00eb kardiake t\u00eb shoq\u00ebruara me k\u00ebt\u00eb sindrom\u00eb mund t\u00eb \u00e7ojn\u00eb n\u00eb komplikime t\u00eb r\u00ebnda dhe k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn, si hipertensioni pulmonar, diseksioni i aort\u00ebs ose \u00e7arja e mureve t\u00eb aort\u00ebs. Anomalit\u00eb veshkore hasen n\u00eb form\u00ebn e agjenez\u00ebs renale ose munges\u00ebs s\u00eb veshk\u00ebs, si dhe veshk\u00eb n\u00eb form\u00eb patkoi. Ekziston rezik p\u00ebr infeksione t\u00eb traktit urinar dhe hipertensionit renal. Gjithashtu hasen edhe dhjamosja e m\u00ebl\u00e7is\u00eb, hipotiroidizmi apo puna e reduktuar e gj\u00ebndr\u00ebs tiroide, nj\u00eb s\u00ebmundje e njohur si tiroiditi Hashimoto. N\u00eb f\u00ebmij\u00ebrin\u00eb e hershme, shpesh ndodhin infeksione t\u00eb veshit t\u00eb mes\u00ebm, t\u00eb cilat mund t\u00eb kthehen n\u00eb infeksione kronike, me pasoj\u00eb humbje t\u00eb d\u00ebgjimit konduktiv dhe n\u00eb k\u00ebt\u00eb m\u00ebnyr\u00eb shfaqet vones\u00eb n\u00eb t\u00eb folur. Gjendja zakonisht p\u00ebrmir\u00ebsohet kur individi rritet dhe infeksionet e veshit b\u00ebhen m\u00eb t\u00eb rralla. Tek t\u00eb rriturit, humbja e d\u00ebgjimit ndodh p\u00ebr shkak t\u00eb paaft\u00ebsis\u00eb s\u00eb nervave t\u00eb d\u00ebgjimit p\u00ebr t\u00eb transmetuar sinjale n\u00eb tru (humbje d\u00ebgjimi sensorineural) dhe kjo gjendje p\u00ebrkeq\u00ebsohet me kalimin e koh\u00ebs.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Trajtimi i sindrom\u00ebs Turner varet nga simptomat q\u00eb paraqet pacienti. Zakonisht p\u00ebrfshin nj\u00eb qasje t\u00eb koordinuar nga ekipe specialist\u00ebsh t\u00eb p\u00ebrb\u00ebr\u00eb nga pediat\u00ebr, kirurg\u00eb, kardiolog\u00eb, endokrinolog\u00eb, logoped\u00eb, otorinolaringolog\u00eb, okulist\u00eb, psikolog\u00eb dhe rekomandim p\u00ebr k\u00ebshillim gjenetik n\u00eb raste t\u00eb caktuara. Edhe pse nuk ka kur\u00eb p\u00ebr k\u00ebt\u00eb s\u00ebmundje gjenetike, terapia simptomatike e dh\u00ebn\u00eb n\u00eb m\u00ebnyr\u00ebn e duhur dhe n\u00eb koh\u00ebn e duhur mund t\u00eb p\u00ebrmir\u00ebsoj\u00eb zhvillimin deri n\u00eb pik\u00ebn e nj\u00eb jete normale dhe produktive. Terapia kryesore \u00ebsht\u00eb hormonale. Terapia me hormonin e rritjes mund t\u00eb normalizoj\u00eb gjat\u00ebsin\u00eb. Nuk dihet ende se cila \u00ebsht\u00eb mosha m\u00eb e mir\u00eb p\u00ebr t\u00eb filluar terapin\u00eb me hormonin e rritjes, por besohet se sa m\u00eb her\u00ebt t\u00eb fillohet, aq m\u00eb i mir\u00eb do t\u00eb ishte efekti. P\u00ebr sa i p\u00ebrket terapis\u00eb me hormonet seksuale estrogjen dhe progesteron, ajo duhet t\u00eb filloj\u00eb n\u00eb mosh\u00ebn 12 deri n\u00eb 14 vje\u00e7, kur puberteti zakonisht shfaqet tek vajzat. Pritet t\u00eb shkaktoj\u00eb fillimin e pubertetit dhe karakteristikat sekondare seksuale. Kjo terapi z\u00ebvend\u00ebsuese hormonale duhet t\u00eb jepet vazhdimisht deri n\u00eb mosh\u00ebn kur pacienti duhet t\u00eb hyj\u00eb n\u00eb menopauz\u00eb. Shumica e pacient\u00ebve me sindrom\u00ebn Turner nuk mund t\u00eb mbeten shtatz\u00ebn\u00eb n\u00eb m\u00ebnyr\u00eb natyrale. Ndonj\u00ebher\u00eb fekondimi in vitro me nj\u00eb vez\u00eb t\u00eb dhuruar \u00ebsht\u00eb i mundur, por n\u00ebn mbik\u00ebqyrje t\u00eb rrept\u00eb mjek\u00ebsore. Grat\u00eb q\u00eb mbajn\u00eb nj\u00eb sasi t\u00eb caktuar t\u00eb kromozomit Y n\u00eb materialin e tyre gjenetik, p\u00ebr shkak t\u00eb rrezikut p\u00ebr zhvillim t\u00eb gonadoblastom\u00ebs, rekomandohet heqja kirurgjikale e indit gonadal jofunksional. Terapia tjet\u00ebr simptomatike p\u00ebrfshin terapin\u00eb e hormoneve tiroide, korrigjimin e d\u00ebgjimit, nd\u00ebrhyrjen e hershme tek f\u00ebmij\u00ebt me logoped, defektolog, mb\u00ebshtetje psikosociale etj.<\/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>Sindromi Tarner\/Turner Syndrome ICD Q96 Prevalenca: 1-5\/10.000 Sindroma Turner \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb kromozomik q\u00eb prek femrat. \u00c7rregullimi karakterizohet [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":187881,"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\/tarner-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/tarner-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"1916","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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