{"id":106984,"date":"2020-02-15T09:54:29","date_gmt":"2020-02-15T08:54:29","guid":{"rendered":"https:\/\/sdk.mk\/?p=106984"},"modified":"2020-02-16T08:41:42","modified_gmt":"2020-02-16T07:41:42","slug":"ju-njoftojme-me-semundjet-e-rralla-akondroplasi","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-akondroplasi\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: AKONDROPLASI"},"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=X6k480aG3UQ&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=16&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Akondroplasi<\/strong><\/em><\/a><br \/>\nMKB Q77.4<br \/>\nAchondroplasia<\/p>\n<p>Akondroplasia \u00ebshte s\u00ebmundje e cila trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale dominante, shfaqet menj\u00ebher\u00eb pas lindjes, me nj\u00eb rritje te ul\u00ebt. Mutacioni n\u00eb kromozomin e 4-t\u00eb sjell deri te shfaqja e esht\u00ebrave te shkurt\u00ebra t\u00eb gjymtyr\u00ebve, nd\u00ebrsa esht\u00ebrat e trupit jan\u00eb normale kurse kafka \u00ebsht\u00eb e zmadhuar dhe me ball\u00eb t\u00eb zgjatur. Kan\u00eb inteligjenc\u00eb normale dhe jet\u00ebzgjatje normale. Incidenca e k\u00ebsaj s\u00ebmundje \u00ebshte nj\u00eb n\u00eb 15000-40000 t\u00eb posalindur.<br \/>\nSipas Institutit Komb\u00ebtar p\u00ebr hulumtim t\u00eb gjenomit njer\u00ebzor (NHGRI), n\u00eb m\u00eb shum\u00eb se 80 % t\u00eb rasteve, akondroplasia nuk \u00ebshte s\u00ebmundje trash\u00ebguese gjenetike. Kjo do t\u00eb thot\u00eb q\u00eb mutacioni p\u00ebrgjegj\u00ebs p\u00ebr akondroplasin\u00eb \u00ebsht\u00eb spontan dhe zhvillohet nga shkaqe t\u00eb panjohura prej \u00e7asteve t\u00eb para t\u00eb zhvillimit embrional.<br \/>\nSipas k\u00ebsaj, p\u00ebrqindja e rasteve trash\u00ebguese t\u00eb akondroplasis\u00eb \u00ebsht\u00eb p\u00ebraf\u00ebrsisht 20%.<br \/>\nPasqyra klinike<br \/>\nIndivid\u00ebt e gjinis\u00eb mashkullore me k\u00ebt\u00eb s\u00ebmundje arrijn\u00eb nj\u00eb lart\u00ebsi mesatare prej 131 cm, kurse ata t\u00eb gjinis\u00eb fem\u00ebrore deri 124 cm. Ve\u00e7 k\u00ebsaj, l\u00ebvizjet e b\u00ebrrylit jan\u00eb t\u00eb kufizuara. Gisht\u00ebrat zakonisht jan\u00eb t\u00eb shkurt\u00ebra, kurse kupolat dhe gisht\u00ebrat e mes\u00ebm mund t\u00eb dallohen, k\u00ebshtu q\u00eb i japin grushtit nj\u00eb pamje t\u00eb trek\u00ebnd\u00ebshit. V\u00ebzhgohet edhe nj\u00eb kok\u00eb e zmadhuar (makrokefali) me ball\u00eb t\u00eb zgjatur. Duart i kan\u00eb shum\u00eb t\u00eb shkurt\u00ebra me gisht\u00ebra t\u00eb shkurt\u00ebr. Foshnjat kan\u00eb edhe gung\u00eb krah\u00ebrrori (n\u00eb boshtin kurrizor torakal) kurse te t\u00eb rriturit paraqitet lordoza lumbale ( deformim i mesit t\u00eb boshtit kurrizor). Esht\u00ebrat e supeve dhe t\u00eb krah\u00ebrrorit jan\u00eb asimetrike m\u00eb t\u00eb m\u00ebdhaja se baza e kafk\u00ebs dhe esht\u00ebrat e kok\u00ebs e t\u00eb fytyr\u00ebs. Si rrezultat i k\u00ebsaj paraqiten deformimet e b\u00ebrrylit, gjunjit, k\u00eb\u00e7it, acetabulumit t\u00eb kofsh\u00ebs etj. Flok\u00ebt, vetullat dhe q\u00ebrpik\u00ebt mund t\u00eb jen\u00eb t\u00eb holl\u00eb, kurse \u00ebsht\u00eb e mund\u00ebshme edhe tullacia e plot\u00eb.<\/p>\n<p>Probleme sh\u00ebndet\u00ebsore te individ\u00ebt me akondroplasi jan\u00eb:<br \/>\nFrym\u00ebmarrja ngadal\u00ebsohet ose ndalohet p\u00ebr nj\u00eb koh\u00ebzgjatje t\u00eb shkurt\u00ebr (munges\u00eb frym\u00ebmarrjeje)<br \/>\nTrash\u00ebsia<br \/>\nInfeksione t\u00eb veshit<br \/>\nLordoz\u00eb (shtremb\u00ebrim i shtyll\u00ebs kurrizore nga p\u00ebrpara)<br \/>\nDhimbje t\u00eb shpin\u00ebs paraqiten n\u00eb mosh\u00ebn e rritur dhe n\u00eb pleq\u00ebri, q\u00eb mund t\u00eb jet\u00eb shkak p\u00ebr v\u00ebshtir\u00ebsi n\u00eb t\u00eb ecurit.<br \/>\nSi dijagnostikohet akondroplasia?<br \/>\nKur v\u00ebrehen gjymtyr\u00eb t\u00eb shkurt\u00ebra gjat\u00eb shtatz\u00ebnis\u00eb n\u00eb nj\u00eb ekzaminim me ultraz\u00eb (zakonisht matet gajt\u00ebsia e ashtit t\u00eb kofsh\u00ebs), n\u00ebp\u00ebrmes plazm\u00ebs s\u00eb n\u00ebn\u00ebs mund t\u00eb merret informat\u00eb p\u00ebr mutacionin e gjenit t\u00eb akondroplasis\u00eb (FGFR3), me \u00e7ka edhe konfirmohet diagnoza.<br \/>\nGjat\u00eb dyshimit t\u00eb k\u00ebsaj s\u00ebmundjeje, mund t\u00eb kryhet amniocenteza dhe biopsia e fijeve korionike, mir\u00ebpo duhet t\u00eb kemi parasysh q\u00eb k\u00ebto procedura jan\u00eb t\u00eb lidhura me rrezikun p\u00ebr abort spontan dhe lindje t\u00eb parakohshme.<br \/>\nR\u00ebntgenografia e kafk\u00ebs, boshtit kurrizor\u00eb dhe t\u00eb gjymtyr\u00ebve kryhet n\u00eb m\u00ebnyr\u00eb rutinore q\u00eb t\u00eb konstatohet shkalla e anomalis\u00eb.<br \/>\nSkeni ( tomografia kompjuterike) dhe rezonansa magnetike nukleare gjithashtu shfryt\u00ebzohen n\u00eb dijagnostik\u00ebn e akondroplasis\u00eb.<br \/>\nShpeshher\u00eb kryhet edhe ekzaminin me ultraz\u00eb i trurit te t\u00eb posalindurit q\u00eb t\u00eb konstatohet madh\u00ebesia e barkusheve t\u00eb trurit, pasi q\u00eb k\u00ebta f\u00ebmij\u00eb kan\u00eb hidrocefali t\u00eb shoq\u00ebruar t\u00eb trurit ( rritje e sasis\u00eb s\u00eb l\u00ebngut truroshpinor\u00eb).<br \/>\nN\u00eb raste t\u00eb ndryshimeve senzomotorike t\u00eb trupit t\u00eb shkaktuara nga anomalit\u00eb e boshtit kurrizor, kryhet ekzaminim neurologjik dhe EMNG ( elektromioneurografi).<br \/>\nSi trajtohet akondroplasia?<br \/>\nN\u00eb diagnostik\u00eb t\u00eb hershme jepet hormon i rritjes ( somatotropina) q\u00eb t\u00eb arrihet nj\u00eb lart\u00ebsi e mjaftueshme e trupit. Nuk ka barna p\u00ebrfundimtare p\u00ebr akondroplasin\u00eb.<br \/>\nSimptomat q\u00eb paraqiten si rezultat i anomalive t\u00eb sistemit asht\u00ebror p\u00ebrfshijn\u00eb trajtim ortopedik.<br \/>\nGjithashtu mund t\u00eb kryhet zgjatje ortopedike e gjymtyr\u00ebve, me \u00e7ka arrihet gjat\u00ebsi plot\u00ebsuese prej 20 cm.<\/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>Akondroplasi MKB Q77.4 Achondroplasia Akondroplasia \u00ebshte s\u00ebmundje e cila trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale dominante, shfaqet menj\u00ebher\u00eb pas lindjes, me nj\u00eb [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":106982,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"","inline_featured_image":false},"categories":[1794],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/15-Achondroplasia-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/15-Achondroplasia-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"2863","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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