{"id":187670,"date":"2023-02-01T11:34:24","date_gmt":"2023-02-01T10:34:24","guid":{"rendered":"https:\/\/sdk.mk\/?p=187670"},"modified":"2023-02-01T11:34:24","modified_gmt":"2023-02-01T10:34:24","slug":"ju-njoftojme-me-semundjet-e-rralla-sindroma-gronblad-strandberg","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-sindroma-gronblad-strandberg\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: SINDROMA GRONBLAD-STRANDBERG"},"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>Sindroma Gr\u00f6nblad-Strandberg\/Pseudoxanthoma elasticum (PXE)<\/strong><\/em><\/p>\n<p>ICD Q 82.8<\/p>\n<p>Prevalenca: 1-9\/100.000<\/p>\n<p>Sindroma Gr\u00f6nblad-Strandberg \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb e trash\u00ebguar q\u00eb prek kryesisht l\u00ebkur\u00ebn, syt\u00eb dhe en\u00ebt e gjakut. Sindroma Gronblad-Strandberg manifestohet n\u00eb indin e l\u00ebkur\u00ebs, n\u00eb en\u00ebt e gjakut, n\u00eb sistemin kardiovaskular dhe n\u00eb traktin gastrointestinal. Ecuria e s\u00ebmundjes, megjithat\u00eb, \u00ebsht\u00eb shum\u00eb e ndryshme dhe jo \u00e7do person i prekur shfaq t\u00eb gjitha simptomat. P\u00ebrve\u00e7 k\u00ebsaj, diagnoza \u00ebsht\u00eb shpesh e v\u00ebshtir\u00eb, k\u00ebshtu q\u00eb shkenc\u00ebtar\u00ebt supozojn\u00eb se ka shum\u00eb raste t\u00eb padiagnostikuara t\u00eb sindrom\u00ebs Gr\u00f6nblad-Strandberg. P\u00ebrshkrimi i par\u00eb i k\u00ebsaj sindrome q\u00eb e dalloi at\u00eb nga gjendjet e tjera t\u00eb ksantomave ishte nga Dr. Ferdinand-Jean Darrier, botuar n\u00eb 1896. Eponimi &#8220;sindroma Gronblad-Strandberg&#8221; \u00ebsht\u00eb em\u00ebruar pas dy mjek\u00ebve suedez\u00eb q\u00eb b\u00ebn\u00eb zbulime shtes\u00eb n\u00eb manifestimet e s\u00ebmundjes, Dr. Esther Elizabeth Gronblad, nj\u00eb okuliste dhe dermatologu James Victor Strandberg.<\/p>\n<p><strong>Manifestimet klinike:<\/strong><\/p>\n<p>Manifestimet fillestare t\u00eb s\u00ebmundjes ndodhin n\u00eb f\u00ebmij\u00ebri, por d\u00ebmtimet e hershme jan\u00eb t\u00eb lehta dhe mund t\u00eb mos njihen klinikisht deri n\u00eb dekad\u00ebn e dyt\u00eb t\u00eb jet\u00ebs. Shenja e par\u00eb klinike \u00ebsht\u00eb pothuajse gjithmon\u00eb shfaqja e papulave t\u00eb vogla t\u00eb verdha t\u00eb vendosura n\u00eb zverk t\u00eb qaf\u00ebs dhe anash n\u00eb qaf\u00eb. Papulat bashkohen m\u00eb tej dhe l\u00ebkura b\u00ebhet e rrudhosur, madje duke ngjasuar me l\u00ebkur\u00ebn e nj\u00eb &#8220;pule t\u00eb rrjepur&#8221;. N\u00eb retin\u00eb shfaqen kalcifikime distrofike n\u00eb membran\u00ebn e Bruch, t\u00eb cilat paraqiten si shirita angioide gjat\u00eb ekzaminimit t\u00eb fundusit. Ato mund t\u00eb nxisin neovaskularizimin koroidal dhe p\u00ebrfundimisht t\u00eb \u00e7ojn\u00eb n\u00eb humbje t\u00eb shikimit qendror, madje edhe n\u00eb verb\u00ebri. N\u00eb fazat e hershme, mund t\u00eb jen\u00eb t\u00eb pranishme lezione erozive sip\u00ebrfaq\u00ebsore n\u00eb traktin gastrointestinal dhe gjakderdhje. N\u00eb fazat e avancuara, zbulohen ndryshime papulare t\u00eb verdha n\u00eb mukoz\u00ebn e stomakut. D\u00ebmtimet vaskulare, karakteristike p\u00ebr k\u00ebt\u00eb sindrome, jan\u00eb semundje okluzive stenotike t\u00eb arterieve t\u00eb mesme periferike, duke perfshir\u00eb vazat renale, t\u00eb shpretk\u00ebs, iliake, femorale dhe kardiake. Pacient\u00ebt jan\u00eb t\u00eb ndjesh\u00ebm ndaj s\u00ebmundjes s\u00eb hershme t\u00eb arterieve koronare q\u00eb mund t\u00eb shfaqet klinikisht me angina pektoris dhe vdekje t\u00eb papritur. Mund t\u00eb v\u00ebrehet trashje fibroze e endokardit t\u00eb ventrikujve, atriumeve dhe valvulave atrioventrikulare. Rreth 25% e pacient\u00ebve p\u00ebrjetojn\u00eb hipertension renovaskular, m\u00eb shpesh n\u00eb mosh\u00ebn madhore, shum\u00eb m\u00eb rrall\u00eb tek f\u00ebmij\u00ebt. Shkaku i hipertensionit \u00ebsht\u00eb rritja e aktivitetit t\u00eb renin\u00ebs, si pasoj\u00eb e ngushtimit dhe kalcifikimit t\u00eb arterieve renale. Kalcifikimi i arterieve nd\u00ebrlobulare dhe harkore n\u00eb veshka gjat\u00eb ekorenografis\u00eb shihet si pika hiperekogjeniteti n\u00eb kufirin kortiko-medular. Kalcifikimet mund t\u00eb gjenden edhe n\u00eb organe t\u00eb tjera si veshkat, mushk\u00ebrit\u00eb, pankreasi, testikujt, shpretka.<\/p>\n<p><strong>Etiologjia:<\/strong><\/p>\n<p>N\u00eb shumic\u00ebn e rasteve, s\u00ebmundja shfaqet p\u00ebr shkak t\u00eb pranis\u00eb s\u00eb varianteve patogjene bialelike n\u00eb gjenin ABCC6 (16p13.11). Rrall\u00eb, disa pacient\u00eb q\u00eb kan\u00eb simptoma t\u00eb ngjashme me PXE, mbartin variante patogjene t\u00eb gjenit ENPP1 (6q23.2), nj\u00eb mutacion i lidhur klinikisht me kalcifikim i gjeneralizuar arterial gjat\u00eb laktacionit.<\/p>\n<p><strong>Diagnoza:<\/strong><\/p>\n<p>Diagnoza vendoset n\u00eb baz\u00eb t\u00eb manifestimeve klinike, m\u00eb s\u00eb shpeshti shfaqja e lezioneve karakteristike t\u00eb verdha t\u00eb l\u00ebkur\u00ebs n\u00eb vendet e predileksionit. Biopsia e ndryshimeve t\u00eb l\u00ebkur\u00ebs duke p\u00ebrdorur elastin dhe kalcium ka nj\u00eb ngjyrosje specifike dhe zbulon ndryshime t\u00eb theksuara morfologjike, me pranin\u00eb e fibrave elastike t\u00eb fragmentuara, t\u00eb grupuara dhe t\u00eb kalcifikuara n\u00eb shtres\u00ebn e mesme dhe n\u00eb shtresat m\u00eb t\u00eb thella t\u00eb l\u00ebkur\u00ebs. Nj\u00eb ekzaminim i fundusit zbulon retinopati karakteristike me shirita angioide ose makulopati. Testimi gjenetik p\u00ebr gjenin ABCC6 mund t\u00eb konfirmoj\u00eb ose p\u00ebrjashtoj\u00eb diagnoz\u00ebn n\u00eb rastet e dyshuara.<\/p>\n<p><strong>Diagnoza diferenciale:<\/strong><\/p>\n<p>Diagnoza diferenciale e shiritave angioide p\u00ebrfshin diagnoz\u00ebn e hemoglobinopative (anemia drap\u00ebrocitare, beta-talasemia, sferocitoza), disa s\u00ebmundje t\u00eb indit elastik t\u00eb l\u00ebkur\u00ebs (elastoza diellore, elastoza dermale fokale, elastoza dermale papilare) dhe s\u00ebmundje t\u00eb tjera multisistemike.<\/p>\n<p><strong>K\u00ebshillimi gjenetik:<\/strong><\/p>\n<p>Trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale recesive, me rrezik prej 25% p\u00ebr shfaqjen e s\u00ebmundjes tek pasardh\u00ebsit. Ndonj\u00ebher\u00eb v\u00ebrehet edhe e ashtuquajtura m\u00ebnyra pseudo-dominuese e trash\u00ebgimis\u00eb, e cila ndodh p\u00ebr shkak t\u00eb frekuenc\u00ebs s\u00eb lart\u00eb t\u00eb heterozigoteve ABCC6 (ABCC6) (rreth 1\/200). N\u00eb at\u00eb rast, nj\u00ebri nga prind\u00ebrit paraqet simptoma t\u00eb caktuara karakteristike p\u00ebr PXE. Duke qen\u00eb se \u00ebsht\u00eb s\u00ebmundje trash\u00ebgimore, duhet vler\u00ebsuar familja e propositusit. N\u00eb familje t\u00eb tilla rekomandohet k\u00ebshillimi gjenetik.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Nuk ka trajtim specifik, k\u00ebshtu q\u00eb nj\u00eb injeksion i drejtp\u00ebrdrejt\u00eb i nj\u00eb inkibitori t\u00eb rritjes endoteliale vaskulare n\u00eb sy p\u00ebrdoret si nj\u00eb trajtim simptomatik (p\u00ebr t\u00eb reduktuar neovaskularizimin koroidal), rekomandohet nj\u00eb m\u00ebnyr\u00eb jetese t\u00eb sh\u00ebndetshme, nj\u00eb diet\u00eb e sh\u00ebndetshme (p\u00ebr t\u00eb zvog\u00ebluar faktor\u00ebt e rrezikut vaskular), kirurgji vaskulare (p\u00ebr arterioskleroz\u00eb t\u00eb r\u00ebnd\u00eb) dhe kirurgji plastike (p\u00ebr palosjet e tep\u00ebrta t\u00eb l\u00ebkur\u00ebs).<\/p>\n<p><strong>Prognoza:<\/strong><\/p>\n<p>\u00cbsht\u00eb nj\u00eb s\u00ebmundje progresive q\u00eb \u00e7on n\u00eb paaft\u00ebsi t\u00eb pacient\u00ebve, por jet\u00ebgjat\u00ebsia, p\u00ebr shumic\u00ebn, nuk shkurtohet.<\/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 Gr\u00f6nblad-Strandberg\/Pseudoxanthoma elasticum (PXE) ICD Q 82.8 Prevalenca: 1-9\/100.000 Sindroma Gr\u00f6nblad-Strandberg \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb e trash\u00ebguar q\u00eb prek [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":187671,"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\/01-Pseudoxanthoma-elasticum-PXE-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/01-Pseudoxanthoma-elasticum-PXE-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"52","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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