{"id":106028,"date":"2020-02-03T09:36:38","date_gmt":"2020-02-03T08:36:38","guid":{"rendered":"https:\/\/sdk.mk\/?p=106028"},"modified":"2020-02-03T09:36:38","modified_gmt":"2020-02-03T08:36:38","slug":"ju-njoftojme-me-semundjet-e-rralla-tyrosinemia-trasheguese","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/histori-te-parrefyera\/ju-njoftojme-me-semundjet-e-rralla-tyrosinemia-trasheguese\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: TYROSINEMIA TRASH\u00cbGUESE"},"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=jCFfKU6Zm8w&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=4&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Tyrosinemia trash\u00ebguese<\/strong><\/em><\/a><br \/>\n\u041c\u041a\u0411 E70.2<br \/>\nHereditary Thyrosinemia<\/p>\n<p>Tyrosinemia trash\u00ebguese Tipi 1 \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i rrall\u00eb ku foshnjat nuk kan\u00eb<br \/>\naft\u00ebsin\u00eb t\u00eb degradojn\u00eb tirozin\u00eb aminoacide. Si rezultat i k\u00ebsaj mang\u00ebsie, substancat toksike<br \/>\ndeponohen n\u00eb gjak\u00eb, nd\u00ebrtohen n\u00eb rrjedh\u00ebn e gjakut dhe mund t\u00eb shkaktojn\u00eb d\u00ebshtim t\u00eb<br \/>\nm\u00ebl\u00e7is\u00eb, mosfunksionim t\u00eb veshkave dhe probleme neurologjike. Ekzistojn\u00eb dy forma t\u00eb<br \/>\nndryshme t\u00eb s\u00ebmundjes &#8211; akute dhe kronike. Forma akute \u00ebsht\u00eb m\u00eb e zakonshme.<br \/>\nSa shpesh ndodh Tyrozinemia Tipi 1?<br \/>\nN\u00eb bot\u00eb nga tirozinemis\u00eb trash\u00ebgimore tip 1, jan\u00eb t\u00eb prekur 1 n\u00eb 100,000 f\u00ebmij\u00eb. Rreziku i<br \/>\nlindjes s\u00eb nj\u00eb f\u00ebmije me s\u00ebmundje, ose trash\u00ebgimi i t\u00eb dy gjeneve me defekt nga prind\u00ebrit,<br \/>\n\u00ebsht\u00eb 25%. Kjo \u00ebsht\u00eb nj\u00eb s\u00ebmundje autosomale recesive<br \/>\nSimptomat<br \/>\nF\u00ebmij\u00ebt me Tyrozinemia Tipi 1 tregojn\u00eb simptoma t\u00eb tilla si pamund\u00ebsia p\u00ebr t\u00eb fituar pesh\u00eb,<br \/>\ndiarre, t\u00eb vjella, m\u00ebl\u00e7i t\u00eb zmadhuar, akumulim t\u00eb l\u00ebngjeve n\u00eb zgavr\u00ebn peritoneale, d\u00ebshtim<br \/>\nt\u00eb veshkave, zbutje t\u00eb kockave dhe tumore t\u00eb m\u00ebl\u00e7is\u00eb.<br \/>\nForma akute zakonisht ndodh n\u00eb muajt e par\u00eb t\u00eb jet\u00ebs. F\u00ebmija ka pesh\u00eb t\u00eb ul\u00ebt, ethe, diarre,<br \/>\ngjak\u00eb n\u00eb feces dhe t\u00eb vjella. M\u00ebl\u00e7ia \u00ebsht\u00eb zmadhuar dhe l\u00ebkura si dhe t\u00eb bardh\u00ebt e syve jan\u00eb<br \/>\nn\u00eb ngjyr\u00eb t\u00eb verdh\u00eb. Gjithashtu paraqitet gjakderdhja e hund\u00ebs shpesh, si dhe shpretka<br \/>\nmund t\u00eb zmadhohet dhe k\u00ebmb\u00ebt t\u00eb fryhen. Pa trajtim, shum\u00eb probleme vazhdojn\u00eb t\u00eb<br \/>\nshfaqen q\u00eb e v\u00ebshtir\u00ebsojn\u00eb jet\u00ebn e pacientit.<br \/>\nTek f\u00ebmij\u00ebt me tirozinemi kronike t\u00eb tipit 1, simptomat zhvillohen gradualisht. F\u00ebmija mund<br \/>\nt\u00eb ket\u00eb m\u00ebl\u00e7i dhe bark t\u00eb zmadhuar, ndryshime skeletore, d\u00ebshtim t\u00eb m\u00ebl\u00e7is\u00eb dhe veshkave.<br \/>\nSimptoma t\u00eb tilla si dhimbja e barkut, d\u00ebmtimi i nervit periferik dhe presioni i lart\u00eb i gjakut<br \/>\ngjithashtu mund t\u00eb ndodhin. N\u00ebse lihet pa trajtuar, f\u00ebmija do t\u00eb zhvilloj\u00eb nj\u00eb form\u00eb m\u00eb t\u00eb<br \/>\nr\u00ebnd\u00eb t\u00eb d\u00ebshtimit t\u00eb m\u00ebl\u00e7is\u00eb dhe do t\u00eb zhvilloj\u00eb tumore t\u00eb m\u00ebl\u00e7is\u00eb.<\/p>\n<p>Diagnoza<br \/>\nGjat\u00eb dyshimit p\u00ebr paraqitje t\u00eb k\u00ebsaj s\u00ebmundje realizohen testime dhe analizat e<br \/>\naminoacideve, sukinilaceton dhe alfa-fetoproteina. Studimet tipike biokimike tregojn\u00eb<br \/>\np\u00ebrqendrime t\u00eb ngritura t\u00eb sukinilacetonit n\u00eb gjak dhe urin\u00eb; rritje t\u00eb niveleve plazmatike t\u00eb<br \/>\ntirozin\u00ebs; metionin\u00eb dhe fenilalanina; rritje t\u00eb p\u00ebrqendrimeve urinare t\u00eb metabolit\u00ebve t\u00eb<br \/>\ntirozin\u00ebs dhe p\u00ebrb\u00ebr\u00ebsit beta-ALA.<\/p>\n<p>Trajtimi<\/p>\n<p>Sot kjo s\u00ebmundje trajtohet me diet\u00eb, ila\u00e7e dhe transplantim t\u00eb m\u00ebl\u00e7is\u00eb. Para vitit 1991, kur u<br \/>\nzhvillua ila\u00e7i i par\u00eb, kjo s\u00ebmundje trajtohej vet\u00ebm me nj\u00eb transplant t\u00eb m\u00ebl\u00e7is\u00eb. Dieta dhe<br \/>\nterapia e ve\u00e7ant\u00eb p\u00ebr z\u00ebvend\u00ebsimin e proteinave jan\u00eb nj\u00eb pjes\u00eb e r\u00ebnd\u00ebsishme e trajtimit<br \/>\ngjat\u00eb gjith\u00eb jet\u00ebs. Shpesh p\u00ebrdoret nj\u00eb trajtim i kombinuar me nitisinin dhe nj\u00eb diet\u00eb me<br \/>\ntirozin\u00eb t\u00eb ul\u00ebt, pasi kjo lejon rritjen normale, funksionimin e p\u00ebrmir\u00ebsuar t\u00eb m\u00ebl\u00e7is\u00eb,<br \/>\nparandalimin e cirroz\u00ebs dhe p\u00ebrmir\u00ebsimin e skeletit.<\/p>\n<p>K\u00ebshilla p\u00ebr menaxhimin m\u00eb t\u00eb leht\u00eb t\u00eb Tirosinemis\u00eb Lloji 1<br \/>\nGj\u00ebja e par\u00eb q\u00eb duhet t\u00eb b\u00ebni \u00ebsht\u00eb, natyrisht, t\u00eb edukoni veten sa m\u00eb shum\u00eb q\u00eb t\u00eb jet\u00eb e<br \/>\nmundur t\u00eb njihni t\u00eb gjitha simptomat dhe komplikimet q\u00eb mund t\u00eb ndodhin dhe t\u00eb dini se si<br \/>\nt&#8217;i reagoni me q\u00ebllim q\u00eb t\u00eb ndihmoni.<br \/>\nGjithashtu mbani nj\u00eb diet\u00eb t\u00eb ul\u00ebt n\u00eb fenilalanin\u00eb dhe tirozin\u00eb, nd\u00ebrsa vitamina D si nj\u00eb<br \/>\nshtes\u00eb dietike mund t\u00eb ndihmoj\u00eb n\u00eb p\u00ebrmir\u00ebsimin e gjendjes.<br \/>\nTestimi i rregullt i gjakut dhe urin\u00ebs jan\u00eb t\u00eb nevojshme p\u00ebr t\u00eb mbajtur n\u00ebn kontroll nivelin e<br \/>\naminoacideve, sukinilacetonit dhe alfa-fetoprotein\u00ebs. Funksioni i m\u00ebl\u00e7is\u00eb dhe veshkave<br \/>\ngjithashtu duhet t\u00eb kontrollohet.<br \/>\nJini t\u00eb vet\u00ebdijsh\u00ebm p\u00ebr faktin se nj\u00eb transplant i m\u00ebl\u00e7is\u00eb mund t\u00eb jet\u00eb i nevojsh\u00ebm p\u00ebr t\u00eb<br \/>\nparandaluar shfaqjen e tumoreve t\u00eb m\u00ebl\u00e7is\u00eb. Kjo \u00ebsht\u00eb arsyeja pse skanimet e m\u00ebl\u00e7is\u00eb<br \/>\nkryhen dhe at\u00eb p\u00ebr t\u00eb zbuluar tumoret e hershme dhe p\u00ebr t&#8217;i hequr ato. Konsultohuni me<br \/>\nmjek\u00ebt e gastroenterologjis\u00eb dhe nefrologjis\u00eb p\u00ebr terapi sa m\u00eb t\u00eb sakt\u00eb.<br \/>\nParandalimi i simptomave dhe komplikimeve<br \/>\nTrajtimi me niticinon duhet t\u00eb fillohet menj\u00ebher\u00eb pasi pacienti \u00ebsht\u00eb diagnostikuar p\u00ebr t\u00eb<br \/>\nparandaluar shfaqjet par\u00ebsore t\u00eb s\u00ebmundjes.<br \/>\nP\u00ebr t\u00eb parandaluar komplikimet dyt\u00ebsore, t\u00eb tilla si mungesa e carnitine, osteoporoza dhe<br \/>\nrahitis, trajtimi duhet t\u00eb fillohet p\u00ebr t\u00eb ndihmuar n\u00eb zbutjen e nj\u00eb gjendje t\u00eb till\u00eb si nj\u00eb shtes\u00eb<br \/>\ne vitamin\u00ebs D gjat\u00eb ushqimit.<br \/>\nVizitat te mjeku dhe kontrolle t\u00eb rregullta jan\u00eb shum\u00eb t\u00eb r\u00ebnd\u00ebsishme p\u00ebr kontrollin e<br \/>\ns\u00ebmundjes dhe pasojat q\u00eb mund t\u00eb ndodhin.<br \/>\nN\u00eb m\u00ebnyr\u00eb q\u00eb t\u00eb filloj\u00eb trajtimin sa m\u00eb shpejt q\u00eb \u00ebsht\u00eb e mundur, \u00ebsht\u00eb e r\u00ebnd\u00ebsishme q\u00eb<br \/>\nf\u00ebmij\u00ebt e prind\u00ebrve q\u00eb kan\u00eb tirozinemi t\u00eb testohen menj\u00ebher\u00eb pas lindjes p\u00ebr diagnoz\u00eb dhe<br \/>\ntrajtim t\u00eb hersh\u00ebm.<br \/>\nShtatz\u00ebnia dhe tirozinemia<br \/>\nNuk ka t\u00eb dh\u00ebna q\u00eb do t\u00eb tregojn\u00eb probleme gjat\u00eb shtatz\u00ebnis\u00eb me p\u00ebrdorimin e trajtimit me<br \/>\nnitissinone. Por fetusi n\u00eb zhvillim rrezikohet nga ndryshimet e tirozin\u00ebs.<\/p>\n<p>Parashikim<\/p>\n<p>Me trajtimin, 90% e pacient\u00ebve kan\u00eb nj\u00eb jet\u00eb normale me rritje normale, stabilizimin e<br \/>\nfunksionit t\u00eb m\u00ebl\u00e7is\u00eb, parandalimin e cirroz\u00ebs, korrigjimin e d\u00ebmtimeve skeletore dhe<br \/>\nrahitis. Trajtimi i hersh\u00ebm gjithashtu zvog\u00eblon incidenc\u00ebn e kancerit t\u00eb m\u00ebl\u00e7is\u00eb.<\/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>Tyrosinemia trash\u00ebguese \u041c\u041a\u0411 E70.2 Hereditary Thyrosinemia Tyrosinemia trash\u00ebguese Tipi 1 \u00ebsht\u00eb nj\u00eb \u00e7rregullim gjenetik i rrall\u00eb ku foshnjat nuk kan\u00eb [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":106026,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_mo_disable_npp":"","inline_featured_image":false,"footnotes":""},"categories":[3085],"tags":[],"class_list":["post-106028","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-histori-te-parrefyera"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - 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