{"id":165842,"date":"2022-02-12T09:12:16","date_gmt":"2022-02-12T08:12:16","guid":{"rendered":"https:\/\/sdk.mk\/?p=165842"},"modified":"2022-02-12T09:12:16","modified_gmt":"2022-02-12T08:12:16","slug":"ju-njoftojme-me-semundjet-e-rralla-diskeratoza-kongjenitale","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-diskeratoza-kongjenitale\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: DISKERATOZA KONGJENITALE"},"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>Diskeratoza kongjenitale\/Dyskeratosis congenita<\/strong><\/em><\/p>\n<p>ICD: D 61.8<\/p>\n<p>Incidenca: 4\/1.000.000 n\u00eb vit<\/p>\n<p>Diskeratoza kongjenitale (DK) \u00ebsht\u00eb nj\u00eb form\u00eb e rrall\u00eb, e trash\u00ebguar, e insuficienc\u00ebs t\u00eb palc\u00ebs s\u00eb kock\u00ebs, n\u00eb fakt \u00ebsht\u00eb pamund\u00ebsi e palc\u00ebs p\u00ebr t\u00eb prodhuar qeliza t\u00eb gjakut. S\u00ebmundja prek edhe organet e tjera. Karakteristike ve\u00e7an\u00ebrisht jan\u00eb ndryshimet n\u00eb form\u00ebn dhe pamjen e thonjve (thonjt\u00eb distrofik\u00eb), ndryshime n\u00eb ngjyr\u00ebn e l\u00ebkur\u00ebs (hiperpigmentim) dhe lezionet e bardha n\u00eb mukoz\u00ebn e goj\u00ebs (leukoplakia orale). Pacient\u00ebt me diskeratoz\u00eb kongjenitale kan\u00eb nj\u00eb rrezik t\u00eb lart\u00eb t\u00eb zhvillimit t\u00eb s\u00ebmundjeve t\u00eb tjera, duke p\u00ebrfshir\u00eb fibroz\u00ebn e mushk\u00ebrive dhe t\u00eb m\u00ebl\u00e7is\u00eb (z\u00ebvend\u00ebsimi i indit normal me ind lidh\u00ebs), tumoreve, sindrom\u00ebs mielodisplazike ose leu\u00e7emis\u00eb. S\u00ebmundja zakonisht fillon n\u00eb dekad\u00ebn e par\u00eb t\u00eb jet\u00ebs. DK \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb, me nj\u00eb frekuenc\u00eb prej rreth 4 rastesh t\u00eb reja n\u00eb 1 milion njer\u00ebz n\u00eb vit.<\/p>\n<p><strong>Simptomat:<\/strong><\/p>\n<p>Te pacient\u00ebt me DK, simptomat dhe shenjat klinike zhvillohen me shpejt\u00ebsi t\u00eb ndryshme dhe n\u00eb mosha t\u00eb ndryshme, madje edhe n\u00eb t\u00eb nj\u00ebjt\u00ebn familje. Te s\u00ebmundja klasike, ndryshimet n\u00eb l\u00ebkur\u00eb dhe thonjt\u00eb shfaqen her\u00ebt edhe at\u00eb n\u00eb dekad\u00ebn e par\u00eb, nd\u00ebrsa 80% e pacient\u00ebve zhvillojn\u00eb insuficienc\u00eb t\u00eb palc\u00ebs s\u00eb kock\u00ebs para mosh\u00ebs 30 vje\u00e7.<br \/>\nRreth 90% e pacient\u00ebve do t\u00eb zhvillojn\u00eb insuficienc\u00eb t\u00eb palc\u00ebs kockore n\u00eb nj\u00eb moment t\u00eb jet\u00ebs s\u00eb tyre. Shenja e par\u00eb e insuficienc\u00ebs s\u00eb palc\u00ebs kockore \u00ebsht\u00eb nj\u00eb trombocitopeni, anemi, ose t\u00eb dyja s\u00eb bashku. Kjo pasohet nga pan\u00e7itopenia (numri i zvog\u00ebluar i t\u00eb gjitha qelizave t\u00eb gjakut) dhe anemia aplastike (pamund\u00ebsia p\u00ebr t\u00eb prodhuar t\u00eb gjitha qelizat e gjakut). Ndryshimet e l\u00ebkur\u00ebs karakterizohen nga zona me pigmentim m\u00eb t\u00eb err\u00ebt (hiperpigmentim) t\u00eb cilat m\u00eb shpesh prekin fytyr\u00ebn, qaf\u00ebn, gjoksin dhe krah\u00ebt. Shkalla e pigmentimit rritet me mosh\u00ebn dhe mund t\u00eb p\u00ebrfshij\u00eb t\u00eb gjith\u00eb sip\u00ebrfaqen e l\u00ebkur\u00ebs.<\/p>\n<p>Distrofia e thonjve zakonisht fillon me nj\u00eb kresht\u00eb gjat\u00ebsore, plasaritje ose mund t\u00eb kulmoj\u00eb n\u00eb humbjen e plot\u00eb t\u00eb thonjve. Leukoplakia zakonisht shfaqet n\u00eb gjuh\u00eb, por gjithashtu mund t\u00eb shihet edhe n\u00eb mukozat e tjera. Te disa pacient\u00eb mund t\u00eb haset lotim i tepruar (epifor\u00eb), v\u00ebshtir\u00ebsi n\u00eb m\u00ebsime e shoq\u00ebruar me vones\u00eb n\u00eb zhvillim, djersitje e tep\u00ebrt e shuplakave dhe shputave, r\u00ebnie dhe zbardhje e flok\u00ebve, prishje e dh\u00ebmb\u00ebve, ngushtim t\u00eb ezofagut, etj. Komplikime ve\u00e7an\u00ebrisht t\u00eb shprehura t\u00eb DK jan\u00eb fibroza pulmonare, fibroza e m\u00ebl\u00e7is\u00eb ose gjakderdhja gastrointestinale, t\u00eb cilat jan\u00eb situata k\u00ebrc\u00ebnuese p\u00ebr jet\u00ebn. Diku 10% e pacient\u00ebve, zakonisht n\u00eb dekad\u00ebn e tret\u00eb apo t\u00eb kat\u00ebrt t\u00eb jet\u00ebs, manifestojn\u00eb s\u00ebmundje malinje, m\u00eb shpesh sindrom\u00eb mielodisplazike, leu\u00e7emi akute, kancer t\u00eb l\u00ebkur\u00ebs ose kancer t\u00eb traktit gastrointestinal.<\/p>\n<p><strong>Shkaqet:<\/strong><\/p>\n<p>DK shkaktohet nga nj\u00eb mutacion n\u00eb nj\u00ebrin prej disa gjeneve t\u00eb njohura (DKC-1, TERC, TERT, TINF-2 dhe disa gjene t\u00eb tjera t\u00eb p\u00ebrshkruara vet\u00ebm n\u00eb raste individuale) q\u00eb \u00e7ojn\u00eb n\u00eb ndryshime n\u00eb gjat\u00ebsin\u00eb e telomereve. Telomeret jan\u00eb struktura t\u00eb vendosura n\u00eb skajet e kromozomeve q\u00eb i mbrojn\u00eb ata nga ngjitja ose cop\u00ebtimi. Shkurtimi i tep\u00ebrt i kromozomeve \u00e7on n\u00eb plakjen e p\u00ebrshpejtuar t\u00eb qelizave, paq\u00ebndrueshm\u00ebrin\u00eb e materialit gjenetik dhe vdekjen e qelizave. Kjo ndodh n\u00eb t\u00eb gjitha qelizat n\u00eb trup, por m\u00eb t\u00eb prekurat jan\u00eb ato qeliza me ndarje t\u00eb shpejt\u00eb, duke p\u00ebrfshir\u00eb qelizat nga palca e kockave, l\u00ebkura dhe mukozat. Ekzistojn\u00eb forma t\u00eb lidhura me kromozomin X (sindroma Zinsser-Cole-Engman), forma autosomale dominante dhe forma autosomale recesive e trash\u00ebgimis\u00eb, n\u00eb var\u00ebsi t\u00eb gjenit t\u00eb p\u00ebrfshir\u00eb. Te disa pacient\u00eb, s\u00ebmundja ndodh n\u00eb m\u00ebnyr\u00eb de novo, q\u00eb do t\u00eb thot\u00eb se s\u00ebmundja nuk trash\u00ebgohet nga prind\u00ebrit. Te vet\u00ebm 70% e pacient\u00ebve me DK konstatohet nj\u00eb mutacion n\u00eb nj\u00eb prej gjeneve t\u00eb njohura, duke treguar se ka akoma gjene t\u00eb pazbuluara t\u00eb lidhura me DK.<\/p>\n<p><strong>Diagnoza:<\/strong><\/p>\n<p>Diagnostikimi i DK b\u00ebhet sipas nj\u00eb vler\u00ebsimi t\u00eb plot\u00eb klinik, nj\u00eb historie t\u00eb holl\u00ebsishme t\u00eb pacientit dhe njohjes s\u00eb ndryshimeve karakteristike, ve\u00e7an\u00ebrisht t\u00eb l\u00ebkur\u00ebs dhe goj\u00ebs. Te pacient\u00ebt q\u00eb zhvillojn\u00eb anemi aplastike ose fibroz\u00eb pulmonare si shenj\u00ebn e par\u00eb t\u00eb s\u00ebmundjes, diagnoza e sakt\u00eb \u00ebsht\u00eb shum\u00eb e v\u00ebshtir\u00eb. Nga testet laboratorike, eritrocitet shpesh jan\u00eb t\u00eb m\u00ebdha, dhe p\u00ebrmbajn\u00eb nivele m\u00eb t\u00eb larta t\u00eb hemoglobin\u00ebs fetale. Mostra fillestare e biopsis\u00eb s\u00eb palc\u00ebs s\u00eb kock\u00ebs \u00a0mund t\u00eb tregoj\u00eb num\u00ebr normal ose t\u00eb rritur t\u00eb qelizave, por me kalimin e koh\u00ebs ka nj\u00eb r\u00ebnie t\u00eb t\u00eb gjitha qelizave t\u00eb gjakut. Disa pacient\u00eb kan\u00eb \u00e7rregullime t\u00eb imunitetit, p\u00ebrfshir\u00eb nivelet e ulura t\u00eb imunoglobulin\u00ebs dhe uljen e numrit t\u00eb limfociteve B dhe \/ ose limfociteve T. Analiza citogjenetike tregon telomere shum\u00eb t\u00eb shkurt\u00ebra n\u00eb qelizat e gjakut te pacient\u00ebt me insuficienc\u00eb t\u00eb zhvilluar t\u00eb palc\u00ebs kockore. Analiza gjenetike molekulare p\u00ebr t\u00eb zbuluar mutacionet n\u00eb gjenet e prekura \u00ebsht\u00eb thelb\u00ebsore p\u00ebr t\u00eb b\u00ebr\u00eb nj\u00eb diagnoz\u00eb t\u00eb sakt\u00eb t\u00eb DK.<\/p>\n<p><strong>Trajtimi:<\/strong><\/p>\n<p>Androgjenet mund t\u00eb p\u00ebrmir\u00ebsojn\u00eb funksionin e palc\u00ebs kockore te rreth 70% t\u00eb pacient\u00ebve duke arritur nj\u00eb num\u00ebr normal t\u00eb qelizave t\u00eb gjakut p\u00ebr nj\u00eb periudh\u00eb prej shum\u00eb vitesh. Me progredimin e s\u00ebmundjes, p\u00ebrgjigja ndaj terapis\u00eb me androgjene zvog\u00eblohet. Terapia me citokina (molekula t\u00eb vogla q\u00eb sinjalizojn\u00eb midis qelizave) vet\u00ebm ose n\u00eb kombinim me eritropoetin\u00eb (nj\u00eb hormon q\u00eb stimulon prodhimin e qelizave t\u00eb kuqe t\u00eb gjakut), mund t\u00eb jet\u00eb e dobishme, por vet\u00ebm n\u00eb nj\u00eb periudh\u00eb afatshkurt\u00ebr. Transplantimi i palc\u00ebs s\u00eb kockave \u00ebsht\u00eb opsioni i vet\u00ebm i suksessh\u00ebm te pacient\u00ebt me anemi t\u00eb r\u00ebnd\u00eb aplastike, sindrom\u00eb mielodisplazike ose leu\u00e7emi akute mieloide. Mbijetesa afatgjat\u00eb e pacient\u00ebve t\u00eb transplantuar, madje edhe nga donor i p\u00ebrputhsh\u00ebm, \u00a0\u00ebsht\u00eb e ul\u00ebt, q\u00eb do t\u00eb thot\u00eb vet\u00ebm 50% e pacient\u00ebve. Shkalla e lart\u00eb e vdekshm\u00ebris\u00eb \u00ebsht\u00eb p\u00ebr shkak t\u00eb nd\u00ebrlikimeve q\u00eb lidhen me transplantimin ose p\u00ebrparimin e s\u00ebmundjes themelore &#8211; fibroza pulmonare ose gjakderdhje gastrointestinale.<br \/>\nMegjith\u00ebse baza gjenetike e DK \u00ebsht\u00eb zbuluar te shumica e pacient\u00ebve, implementimi i terapis\u00eb gjenetike \u00ebsht\u00eb ende nj\u00eb \u00ebnd\u00ebrr p\u00ebr shum\u00eb njer\u00ebz.<\/p>\n<div class=\"yj6qo\"><\/div>\n<div class=\"adL\"><\/div>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Diskeratoza kongjenitale\/Dyskeratosis congenita ICD: D 61.8 Incidenca: 4\/1.000.000 n\u00eb vit Diskeratoza kongjenitale (DK) \u00ebsht\u00eb nj\u00eb form\u00eb e rrall\u00eb, e trash\u00ebguar, [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165843,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[57007],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/12-Dyskeratosis-congenita-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/12-Dyskeratosis-congenita-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"280","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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