{"id":139709,"date":"2021-02-21T09:02:20","date_gmt":"2021-02-21T08:02:20","guid":{"rendered":"https:\/\/sdk.mk\/?p=139709"},"modified":"2021-02-21T09:02:20","modified_gmt":"2021-02-21T08:02:20","slug":"ju-njoftojme-me-semundjet-e-rralla-leukoencefalopatia-me-sferoide-aksonale-dhe-geliza-gliale-te-pigmentuara-tek-adultet","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-leukoencefalopatia-me-sferoide-aksonale-dhe-geliza-gliale-te-pigmentuara-tek-adultet\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: LEUKOENCEFALOPATIA ME SFEROIDE AKSONALE DHE GELIZA GLIALE T\u00cb PIGMENTUARA TEK ADULT\u00cbT"},"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>Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia<br \/>\n<a href=\"https:\/\/www.youtube.com\/watch?v=l8LuB2CrXg8&amp;list=PLPGcigDEy-qjbp5PqAn9GhcRLTEx3PuVd&amp;index=21\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Leukoencefalopatia me sferoide aksonale dhe qeliza gliale t\u00eb pigmentuara tek adult\u00ebt<\/strong><\/em><\/a><br \/>\n<em><strong>(ALSP)<\/strong><\/em><\/p>\n<p>ICD E75.2<br \/>\nPrevalenca: 1 \/ 1.000.000<\/p>\n<p>ALSP \u00ebsht\u00eb nj\u00eb gjendje e rrall\u00eb neurologjike, nj\u00eb s\u00ebmundje autosomale dominante e karakterizuar nga leukodistrofia (nj\u00eb grup s\u00ebmundjesh t\u00eb rralla, progresive, metabolike, gjenetike q\u00eb prekin trurin, palc\u00ebn kurrizore dhe shpesh nervat periferik\u00eb) q\u00eb zakonisht mbaron me vdekje p\u00ebr 5 -7 vjet. Tipari kryesor \u00ebsht\u00eb leukoencefalopatia (\u00e7rregullimi i l\u00ebnd\u00ebs s\u00eb bardh\u00eb t\u00eb trurit) si dhe trashja e aksoneve t\u00eb quajtura sferoide t\u00eb cilat jan\u00eb shenj\u00eb e d\u00ebmtimit, dhe pigmentimit anormal t\u00eb qelizave gliale t\u00eb trurit. D\u00ebmtimi i mielin\u00ebs dhe neuroneve mendohet se kontribuon n\u00eb manifestimin e shenjave dhe simptomave neurologjike te njer\u00ebzit me ALSP, zakonisht n\u00eb mosh\u00ebn prej 30 gjer 50 vje\u00e7. Prevalenca e sakt\u00eb nuk dihet. Shpesh mund t\u00eb diagnostikohet gabimisht p\u00ebr shkak t\u00eb simptomave t\u00eb ngjashme me \u00e7rregullimet e tjera.<\/p>\n<p>(radio jingle I njohim s\u00ebmundjet e rralla)<\/p>\n<p>P\u00ebr shum\u00eb vite, leukoencefalopatia difuze e trash\u00ebgueshme me sferoide dhe leukodistrofia ortokromatike pigmentoze konsideroheshin si dy leukoencefalopati t\u00eb trash\u00ebguara t\u00eb ve\u00e7anta. HDLS \u00ebsht\u00eb em\u00ebrtuar edhe si leukodistrofi neuroaksonale. Ngjashm\u00ebrit\u00eb n\u00eb paraqitjen klinike dhe histologjin\u00eb kan\u00eb sugjeruar lidhshm\u00ebri midis dy s\u00ebmundjeve, dhe p\u00ebr k\u00ebt\u00eb arsye konsiderohen t\u00eb jen\u00eb pjes\u00eb e s\u00eb nj\u00ebjtit spekt\u00ebr t\u00eb s\u00ebmundjeve.<\/p>\n<p>Simptomat zakonisht fillojn\u00eb tek pacient\u00ebt n\u00eb t\u00eb dyzetat dhe p\u00ebrkeq\u00ebsohen me kalimin e koh\u00ebs. Ndryshimet e personalitetit, si dhe depresioni jan\u00eb nd\u00ebr simptomat m\u00eb t\u00eb hershme t\u00eb ALSP. Pacient\u00ebt mund t\u00eb zhvillojn\u00eb humbje t\u00eb kujtes\u00ebs, humbje t\u00eb aft\u00ebsis\u00eb p\u00ebr t\u00eb planifikuar dhe zbatuar aktivitete dhe humbje t\u00eb strategjis\u00eb p\u00ebr zgjidhjen e problemeve. P\u00ebrkeq\u00ebsimi i gjendjes mund t\u00eb \u00e7oj\u00eb n\u00eb nj\u00eb r\u00ebnie t\u00eb aft\u00ebsive p\u00ebr t\u00eb menduar dhe gjykuar (demenc\u00eb). Disa mund t\u00eb ken\u00eb sulme t\u00eb lehta epileptike. Me kalimin e koh\u00ebs, ajo gjithashtu i prek edhe nervat motorik\u00eb, k\u00ebshtu q\u00eb t\u00eb s\u00ebmur\u00ebt mund t\u00eb ken\u00eb v\u00ebshtir\u00ebsi n\u00eb ecje. Shum\u00eb prej tyre zhvillojn\u00eb v\u00ebshtir\u00ebsi n\u00eb l\u00ebvizje t\u00eb njohura si parkinsoniz\u00ebm, i cili p\u00ebrfshin ecje t\u00eb ngadalt\u00eb (bradikinezi), dridhje t\u00eb pavullnetshme (tremor) dhe ngurt\u00ebsi t\u00eb muskujve (rigiditet). Shfaqja e problemeve kognitive dhe motorike \u00ebsht\u00eb e ndryshueshme, por me kalimin e koh\u00ebs pacient\u00ebt nuk mund t\u00eb ecin, t\u00eb flasin dhe t\u00eb kujdesen p\u00ebr veten e tyre.<\/p>\n<p>Kjo s\u00ebmundje trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale-dominante, q\u00eb do t\u00eb thot\u00eb se personi i s\u00ebmur\u00eb trash\u00ebgon mutacionin nga nj\u00eb prind i prekur. Por n\u00eb disa raste, s\u00ebmundja \u00ebsht\u00eb rezultat i mutacioneve t\u00eb reja n\u00eb gjen dhe ndodh tek njer\u00ebzit q\u00eb nuk kan\u00eb histori familjare t\u00eb \u00e7rregullimit.<\/p>\n<p>(radio jingle I njohim s\u00ebmundjet e rralla)<\/p>\n<p>ALSP shkaktohet nga mutacionet n\u00eb gjenin CSF1R. Ky gjen kontrollon prodhimin e nj\u00eb proteine \u200b\u200bt\u00eb quajtur receptori i faktorit stimulues t\u00eb kolonis\u00eb -1 (receptori CSF-1), i cili ndodhet n\u00eb membran\u00ebn e jashtme t\u00eb qelizave t\u00eb caktuara, p\u00ebrfshir\u00eb qelizat gliale. Receptori CSF-1 shkakton kaskada t\u00eb shumta q\u00eb kontrollojn\u00eb procese t\u00eb ndryshme qelizore, t\u00eb tilla si rritja dhe ndarja e qelizave, maturimi dhe diferencimi i tyre.<\/p>\n<p>Mutacionet n\u00eb gjenin CSF1R shkaktojn\u00eb nj\u00eb protein\u00eb t\u00eb ndryshuar t\u00eb receptorit CSF-1 e cila si\u00e7 duket nuk mund t\u00eb stimuloj\u00eb proceset n\u00eb qeliza. Sidoqoft\u00eb, nuk \u00ebsht\u00eb e qart\u00eb se si mutacionet \u00e7ojn\u00eb n\u00eb d\u00ebmtimin e l\u00ebnd\u00ebs s\u00eb bardh\u00eb.<\/p>\n<p>N\u00eb tomografin\u00eb kompjuterike shihen kalcifikate periventrikulare, zakonisht vet\u00ebm n\u00eb prerjet sagitale. Rezonanca magnetike te bart\u00ebsit e mutacionit tregon lezione jospecifike hiperintensive n\u00eb mas\u00ebn e bardh\u00eb nd\u00ebrsa te pacient\u00ebt simptomatik\u00eb shihen zona t\u00eb ve\u00e7uara ose t\u00eb bashkuara asimetrike bilaterale t\u00eb vendosura n\u00ebn korteks ose thell\u00eb n\u00eb l\u00ebnd\u00ebn e bardh\u00eb, zakonisht m\u00eb t\u00eb shprehura n\u00eb lobin frontal dhe parietal. Progresioni \u00e7on n\u00eb atrofi t\u00eb r\u00ebnd\u00eb t\u00eb l\u00ebnd\u00ebs s\u00eb bardh\u00eb.<\/p>\n<p>Trajtimi dhe prognoza:<\/p>\n<p>Aktualisht nuk ka asnj\u00eb terapi specifike t\u00eb pranuar dhe s\u00ebmundja p\u00ebrfundon n\u00eb m\u00ebnyr\u00eb t\u00eb fatale brenda disa vitesh.<\/p>\n<p>Diagnoza diferenciale:<\/p>\n<p>Diagnozat diferenciale radiologjke jan\u00eb: skleroza multiple, vaskuliti cerebral, CADASIL.<br \/>\nDiagnozat diferenciale klinike jan\u00eb: S\u00ebmundja Alzheimer, demenca frontotemporale, parkinsonizmi atipik.<\/p>\n<p>&nbsp;<\/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>Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Leukoencefalopatia me sferoide aksonale dhe qeliza gliale t\u00eb pigmentuara tek adult\u00ebt [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":139707,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/21-Leukoentsefalopatija-so-aksonalni-sferoidi-i-pigmentirana-glija-kaj-vozrasni-ALSP-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2021\/02\/21-Leukoentsefalopatija-so-aksonalni-sferoidi-i-pigmentirana-glija-kaj-vozrasni-ALSP-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"923","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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