{"id":166748,"date":"2022-02-24T09:36:42","date_gmt":"2022-02-24T08:36:42","guid":{"rendered":"https:\/\/sdk.mk\/?p=166748"},"modified":"2022-02-24T09:36:42","modified_gmt":"2022-02-24T08:36:42","slug":"ju-njoftojme-me-semundjet-e-rralla-leukoencefalopati-me-perfshirjen-e-trurit-dhe-palces-kurrizore-dhe-ngritje-te-laktatit","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-leukoencefalopati-me-perfshirjen-e-trurit-dhe-palces-kurrizore-dhe-ngritje-te-laktatit\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: LEUKOENCEFALOPATI ME P\u00cbRFSHIRJEN E TRURIT DHE PALC\u00cbS KURRIZORE DHE NGRITJE T\u00cb LAKTATIT"},"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>Leukoencefalopati me p\u00ebrfshirjen e trurit dhe palc\u00ebs kurrizore dhe ngritje t\u00eb laktatit\/Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)<\/strong><\/em><\/p>\n<p>ICD: E 88.8<\/p>\n<p>Prevalenca: &lt; 1\/1.000.000<\/p>\n<p>Leukoencefalopati me p\u00ebrfshirjen e trurit dhe palc\u00ebs kurrizore dhe ngritje t\u00eb laktatit (LBSL) \u00ebsht\u00eb nj\u00eb \u00e7rregullim i rrall\u00eb q\u00eb karakterizohet me nj\u00eb s\u00ebr\u00eb \u00e7\u00ebshtjesh neurologjike. Pacient\u00ebt kan\u00eb s\u00ebmundje t\u00eb mas\u00ebs s\u00eb bardh\u00eb t\u00eb trurit (leukoencefalopati). Masa e bardh\u00eb formon at\u00eb q\u00eb njihet si mb\u00ebshtjellja e mijeli\u00ebs, e cila \u00ebsht\u00eb mbulesa mbrojt\u00ebse e fijeve nervore. Pa mas\u00eb t\u00eb bardh\u00eb, sinjalet midis qelizave nervore nuk mund t\u00eb transmetohen ashtu si\u00e7 duhet. Laktati \u00ebsht\u00eb metabolit q\u00eb gjendet n\u00eb tru, roli i sakt\u00eb i t\u00eb cilit n\u00eb tru nuk \u00ebsht\u00eb kuptuar plot\u00ebsisht, mir\u00ebpo mund t\u00eb ndihmoj\u00eb n\u00eb furnizimin e qelizave nervore me energji. Laktati \u00ebsht\u00eb i ritur n\u00eb shumic\u00ebn e pacient\u00ebve me LBSL.<br \/>\nPacient\u00ebt shfaqin simptoma si: spasticitet, dob\u00ebsi dhe ataksi progresive cerebellare. Spasticiteti \u00ebsht\u00eb ngurt\u00ebsim i muskujve i cili \u00e7on n\u00eb v\u00ebshtir\u00ebsi progresive t\u00eb ecjes, nd\u00ebrsa te disa edhe n\u00eb humbje t\u00eb aft\u00ebsis p\u00ebr t\u00eb ecur. Ataksia cerebellare \u00ebsht\u00eb v\u00ebshtir\u00ebsi n\u00eb koordinimin e l\u00ebvizjeve vullnetare, t\u00eb cilat mund t\u00eb \u00e7ojn\u00eb n\u00eb nj\u00eb s\u00ebr\u00eb \u00e7\u00ebshtjesh duke p\u00ebrfshir\u00eb koordinimin e dob\u00ebt manual, v\u00ebshtir\u00ebsi n\u00eb detyrat motorike dhe paq\u00ebndrueshm\u00ebri gjat\u00eb ecjes. LBSL shkaktohet nga nj\u00eb mutacion n\u00eb gjenin DARS2.<\/p>\n<p><strong>Shenjat dhe simptomat \u0435 LBSL:<\/strong><\/p>\n<p>LBSL mendohet si nj\u00eb spekt\u00ebr s\u00ebmundjesh. Shpesh t\u00eb posalindurit ose fosnjat q\u00eb shfaqin simptoma her\u00ebt n\u00eb foshnj\u00ebri vdesin brenda dy viteve t\u00eb para t\u00eb jet\u00ebs. Disa individ mund t\u00eb ken\u00eb simptoma t\u00eb dukshme n\u00eb mosh\u00ebn shkollore ose mosh\u00ebn madhore dhe k\u00ebto simptoma mund t\u00eb mbeten t\u00eb buta p\u00ebr shum\u00eb vite. Me p\u00ebrjashtim t\u00eb form\u00ebs m\u00eb t\u00eb r\u00ebnd\u00eb, LBSL zakonisht zhvillohet ngadal\u00eb me kalimin e viteve.<br \/>\nN\u00eb shumic\u00ebn e individ\u00ebve me fillimin e k\u00ebtij \u00e7rregullimi n\u00eb f\u00ebmij\u00ebri, zhvillimi fillestar \u00ebsht\u00eb normal. Pjesa m\u00eb e madhe e f\u00ebmij\u00ebve fillojn\u00eb t\u00eb ecin n\u00eb diapazonin normal t\u00eb mosh\u00ebs, mir\u00ebpo shum\u00eb prej tyre do t\u00eb ken\u00eb nevoj\u00eb p\u00ebr ndihm\u00eb p\u00ebr t\u00eb ecur n\u00eb mosh\u00ebn adoleshente ose n\u00eb mosh\u00ebn e rritur, k\u00ebshtu q\u00eb disa prej tyre do t\u00eb ken\u00eb nevoj\u00eb p\u00ebr perdorimin e karriges me rrota. Disa do t\u00eb ken\u00eb probleme t\u00eb lehta me barazpesh\u00ebn n\u00eb mosh\u00ebn adoleshente, q\u00eb si pasoj do t\u00eb ken\u00eb v\u00ebshtir\u00ebsi n\u00eb t\u00eb ecurit.<\/p>\n<p>Simptomat m\u00eb t\u00eb zakonsh\u00ebm q\u00eb shfaqen jan\u00eb spasticiteti ose ngurt\u00ebsimi i muskujve dhe ataksia cerebellare, q\u00eb paraqet nj\u00eb v\u00ebshtir\u00ebsi n\u00eb ecje dhe aft\u00ebsi motorike. Simptoma tjer\u00eb q\u00eb mund t\u00eb paraqiten jan\u00eb v\u00ebshtir\u00ebsi n\u00eb t\u00eb folurit (dizartri), dridhje t\u00eb duarve, l\u00ebvzje t\u00eb shpejta dhe t\u00eb pavullnetshme t\u00eb syve (nistagmus). Ndonj\u00ebher\u00eb mund t\u00eb zhvillohet neuropati periferike, k\u00ebshtu q\u00eb mund t\u00eb paraqiten ndjesi si shpimi gjilp\u00ebrash, djegie, mpirje dhe therje n\u00eb ekstremitetet e prekura.<\/p>\n<p>Pacient\u00ebt me LBSL mund t\u00eb jen\u00eb n\u00eb rrezik p\u00ebr komplikime t\u00eb r\u00ebnda pas traumave t\u00eb vogla t\u00eb kok\u00ebs.<\/p>\n<p><strong>Shkaku i LBSL:<\/strong><\/p>\n<p>LBSL shkaktohet nga nj\u00eb variant jonormal i gjenit DARS2. Gjenet japin udh\u00ebzime p\u00ebr krijimin e proteinave q\u00eb luajn\u00eb nj\u00eb rol kritik n\u00eb shum\u00eb funksione t\u00eb trupit. Kur ndodh nj\u00eb mutacion i nj\u00eb gjeni, produkti i proteinave mund t\u00eb jet\u00eb i gabuar, joefikas, i munguar ose i tep\u00ebrt. N\u00eb var\u00ebsi t\u00eb funksionit t\u00eb protein\u00ebs, kjo mund t\u00eb ndikoj\u00eb n\u00eb shum\u00eb sisteme t\u00eb organeve t\u00eb trupit p\u00ebrfshir\u00eb trurin dhe palc\u00ebn kurrizore. S\u00ebmundjet gjenetike p\u00ebrcaktohen nga kombinimi i gjeneve p\u00ebr nj\u00eb tipar t\u00eb ve\u00e7ant\u00eb q\u00eb jan\u00eb n\u00eb kromozomet e marra nga babai dhe n\u00ebna. \u00c7rregullimet e trash\u00ebguara n\u00eb nj\u00eb model recesiv ndodhin kur nj\u00eb individ trash\u00ebgon t\u00eb njejtin gjen jonormal nga secili prind. Pothuajse t\u00eb gjith\u00eb individ\u00ebt me LBSL jan\u00eb heterozigot t\u00eb p\u00ebrbr\u00ebr\u00eb p\u00ebr dy mutacione DARS2, q\u00eb do t\u00eb thot\u00eb q\u00eb ata kan\u00eb trash\u00ebguar 2 mutacione t\u00eb ndryshme autosomale recesive.<\/p>\n<p><strong>Popullata e prekur me LBSL:<\/strong><\/p>\n<p>LBSL \u00ebsht\u00eb nj\u00eb \u00e7rregullim jasht\u00ebzakonisht i rrall\u00eb q\u00eb \u00ebsht\u00eb raportuar p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb literatur\u00ebn mjek\u00ebsore n\u00eb vitin 2002. Sipas organizat\u00ebs A cure for Ellie, q\u00eb nga Prilli 2018, ka reth 100 individ n\u00eb t\u00eb gjith\u00eb bot\u00ebn m\u00eb k\u00ebt\u00eb s\u00ebmundje. P\u00ebr shkak se s\u00ebmundjet e rralla si LBSL shpesh nuk diagnostikohen ose keqdiagnostikohen, \u00ebsht\u00eb e v\u00ebshtir\u00eb t\u00eb p\u00ebrcaktohet frekuenca e v\u00ebrtet\u00eb n\u00eb popullat\u00ebn e p\u00ebrgjithshme.<\/p>\n<p><strong>Diagnoza e LBSL:<\/strong><\/p>\n<p>Diagnoza e LBSL bazohet n\u00eb identifikimin e simptomave karakteristike, nj\u00eb histori t\u00eb holl\u00ebsishme t\u00eb pacientit, nj\u00eb vler\u00ebsim t\u00eb plot\u00eb klinik dhe nj\u00eb s\u00ebr\u00eb testesh t\u00eb specializuara duke p\u00ebrfshir\u00eb testimin gjenetik. Gjetjet dalluese jan\u00eb n\u00eb rezonanc\u00ebn magnetike (MRI) t\u00eb kok\u00ebs. Ka ndryshime dalluese n\u00eb MRI n\u00eb zona t\u00eb caktuara t\u00eb trurit ose palc\u00ebs kurrizore q\u00eb mund t\u00eb p\u00ebrdoren p\u00ebr t\u00eb diagnostikuar LBSL.<\/p>\n<p>Sugjerohet q\u00eb rezonanca magnetike me spektroskopi t\u00eb p\u00ebrdoret p\u00ebr t\u00eb zbuluar laktatin, i cili \u00ebsht\u00eb i rritur n\u00eb nivele jonormale n\u00eb mas\u00ebn e bardh\u00eb t\u00eb trurit. P\u00ebrshkak q\u00eb jo \u00e7do pacient tregon nivele t\u00eb ngritura t\u00eb laktatit, LBSL duhet t\u00eb dyshohet n\u00ebse jan\u00eb t\u00eb pranishme karakteristikat n\u00eb MRI. Testimi gjenetik mund t\u00eb konfirmoj\u00eb nj\u00eb diagnoz\u00eb t\u00eb LBSL.<\/p>\n<p><strong>Terapi standarde:<\/strong><\/p>\n<p>Nuk ka sh\u00ebrim p\u00ebr LBSL. Trajtimi \u00ebsht\u00eb kund\u00ebr simptomave specifike dhe k\u00ebrkon nj\u00eb p\u00ebrpjekje prej nj\u00eb ekip specialist\u00ebsh si pediat\u00ebr neurolog, terapist\u00eb fizik\u00eb, gjenetist\u00eb, punonj\u00ebs social\u00eb. Thelb\u00ebsore \u00ebsht\u00eb mb\u00ebshtetja psikosociale p\u00eb t\u00eb gjith\u00eb familjen. K\u00ebshillimi gjenetik mund t\u00eb jet\u00eb i dobish\u00ebm p\u00ebr indivd\u00ebt e prekur dhe familjet e tyre.<\/p>\n<p>Nuk ka protokole t\u00eb standardizuara t\u00eb trajtimit ose udh\u00ebzime p\u00ebrpacient\u00ebt. Pacient\u00ebt mund t\u00eb p\u00ebrfitojn\u00eb nga terapia fizike dhe rehabilitimi, t\u00eb cilat mund t\u00eb p\u00ebrmir\u00ebsojn\u00eb funksionin motorik. Terapia e te foluit mund t\u00eb ndihmoj\u00eb individ\u00ebt me dizartri.<br \/>\nIla\u00e7et kund\u00ebr konvulzioneve, t\u00eb quajtura antikonvulsiv\u00eb ose antiepileptik\u00eb, mund t\u00eb p\u00ebrshkruhen p\u00ebr pacient\u00ebt me sulme epileptike.<\/p>\n<p>LBSL \u00ebsht\u00eb nj\u00eb \u00e7rregullim progresiv, k\u00ebshtu q\u00eb k\u00ebshillohet t\u00eb p\u00ebrcjellet me MRI mbrenda disa vite.<\/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>Leukoencefalopati me p\u00ebrfshirjen e trurit dhe palc\u00ebs kurrizore dhe ngritje t\u00eb laktatit\/Leukoencephalopathy with brain stem and spinal cord involvement and [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":166749,"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\/24-Leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/24-Leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-and-lactate-elevation-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"479","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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