{"id":106917,"date":"2020-02-14T10:51:56","date_gmt":"2020-02-14T09:51:56","guid":{"rendered":"https:\/\/sdk.mk\/?p=106917"},"modified":"2020-02-16T08:42:39","modified_gmt":"2020-02-16T07:42:39","slug":"ju-njoftojme-me-semundjet-e-rralla-hipokalcemia-autosomale-dominante-2","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-hipokalcemia-autosomale-dominante-2\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPOKALCEMIA AUTOSOMALE DOMINANTE"},"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=xxd6Fv8SBDY&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=15&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Hipokalcemia autosomale dominante<\/strong><\/em><\/a><\/p>\n<p>Autosomal dominant hypocalcemia<\/p>\n<p>KNS \u041520.8<\/p>\n<p>Sinonime: hipoparatiroidiz\u00ebm autosomal dominant, hipokalcemia hiperkalciurike familjare, hipokalcemia familjare<\/p>\n<p>Hipokalcemia autosomale dominante (HAD) \u00ebsht\u00eb s\u00ebmundje shum\u00eb e rrall\u00eb e homeostaz\u00ebs s\u00eb kalciumit. Ajo \u00ebsht\u00eb e shkaktuar nga mutacioni i gjenit CASR (3q21.1) i cili e kodon receptorin e kalciumit. Ky receptor luan rol ky\u00e7 n\u00eb rregullimin e metabolizmit t\u00eb kalciumit dhe t\u00eb fosforit duke e kontrolluar sekrecionin e hormonit t\u00eb gj\u00ebndres paratiroide (parathormon\u00ebs) dhe p\u00ebrmes eksrecionit t\u00eb kalciumit n\u00eb urin\u00eb si p\u00ebrgjigje ndaj variacioneve t\u00eb kalciumit n\u00eb serum. Pasi q\u00eb b\u00ebhet fjal\u00eb p\u00ebr mutacion t\u00eb aktivuar t\u00eb k\u00ebtij gjeni, ndodh q\u00eb t\u00eb ket\u00eb senzitivitet t\u00eb zmadhuar t\u00eb qelizave t\u00eb gj\u00ebndr\u00ebs paratiroide dhe t\u00eb qelizave t\u00eb tubuleve t\u00eb veshk\u00ebs ndaj nivelit t\u00eb kalciumit n\u00eb gjak, dhe prandaj vjen gjer te hipokalcemia t\u00eb cil\u00ebn k\u00ebta qeliza e perceptojn\u00eb si normale. Gjithashtu jan\u00eb t\u00eb p\u00ebrshkruara mutacione t\u00eb aktivuara edhe n\u00eb gjenin GNA11 (19p13.3).<br \/>\nS\u00ebmundja trash\u00ebgohet n\u00eb m\u00ebnyr\u00eb autosomale dominant ashtu q\u00eb mjafton q\u00eb f\u00ebmija t\u00eb trash\u00ebgoj\u00eb vet\u00ebm nj\u00eb kopje t\u00eb gjenit t\u00eb mutuar nga njeri prind q\u00eb ta manifestoj\u00eb s\u00ebmundjen. Tek num\u00ebr i vog\u00ebl i pacient\u00ebve mutacioni ka ndodhur de novo dmth asnj\u00eb nga prind\u00ebrit nuk \u00ebsht\u00eb bart\u00ebs i mutacionit.<br \/>\nKalciumi luan rol ky\u00e7 n\u00eb kontrollin e l\u00ebvizjeve t\u00eb muskujve ashtu q\u00eb n\u00eb munges\u00eb t\u00eb tij shfaqet ng\u00ebr\u00e7im ose dridhje muskujve. Sa m\u00eb i ul\u00ebt \u00ebsht\u00eb niveli i kalciumit n\u00eb gjak, simptomat jan\u00eb m\u00eb t\u00eb shprehura.<br \/>\nEkspresioni klinik dhe mosha e manifestimit t\u00eb simptomave jan\u00eb shum\u00eb t\u00eb ndryshueshme (var\u00ebsisht nga niveli i kalciumit n\u00eb gjak).<br \/>\nDisa paceient\u00eb jan\u00eb kompletisht pa simptoma (tek ata diagnoza p\u00ebrcaktohet rast\u00ebsisht gjat\u00eb ekzaminimit t\u00eb gjakut), disa jan\u00eb me simptoma t\u00eb mesme (ng\u00ebr\u00e7je, parestezi) dhe disa kan\u00eb simptoma shum\u00eb t\u00eb r\u00ebnda (psh konvulzione q\u00eb p\u00ebrs\u00ebriten).<br \/>\nSimptoma m\u00eb e shpesht\u00eb e hipokalcemis\u00eb autosomale dominante jan\u00eb spazmet e muskujve t\u00eb duarve dhe t\u00eb shputave (spazme karpopedale), ng\u00ebr\u00e7je t\u00eb muskujve, senzacione t\u00eb shpu\u0430rjes apo pickimit (paresteziet) ose iritim neuromuskulor n\u00eb form\u00eb t\u00eb dridhjes s\u00eb muskujve n\u00eb pjes\u00eb t\u00eb ndryshme t\u00eb trupit. Personat me form\u00ebn m\u00eb t\u00eb r\u00ebnd\u00eb t\u00eb s\u00ebmundjes kan\u00eb konvulzione zakonisht qysh nga mosha e foshnjes ose f\u00ebmij\u00ebria e hershme. Ndonj\u00ebher\u00eb k\u00ebto simptoma shfaqen vet\u00ebm gjat\u00eb epizodeve t\u00eb s\u00ebmundjes apo gjat\u00eb temperatur\u00ebs. Gjat\u00eb hipokalcemis\u00eb pacient\u00ebt kan\u00eb v\u00ebshtir\u00ebsi n\u00eb koncentrim dhe zakonisht kjo quhet \u201cbrain fog\u201d (mjegull n\u00eb tru).<br \/>\nP\u00ebrve\u00e7 kalciumit t\u00eb ul\u00ebt n\u00eb gjak, nivelit t\u00eb lart\u00eb t\u00eb kalciumit n\u00eb urin\u00eb gjithashtu \u00ebsht\u00eb prezent edhe nivel i lart\u00eb i fosforit n\u00eb gjak, nivel i ul\u00ebt i magneziumit n\u00eb gjak dhe ekretim t\u00eb zmadhuar t\u00eb magneziumit n\u00eb urin\u00eb. Nefrokalcionoza dhe d\u00ebmtimi i funksionit t\u00eb veshkave jan\u00eb gjithashtu t\u00eb p\u00ebrshkruara. Kalcifikate formohen edhe n\u00eb gangliet bazale t\u00eb trurit, t\u00eb cil\u00ebt jan\u00eb p\u00ebrgjegj\u00ebse p\u00ebr kontroll\u00ebn e l\u00ebvizjeve. Gjithashtu jan\u00eb t\u00eb p\u00ebrshkruara raste t\u00eb hipokalcemis\u00eb autosomale dominante me karakteristika t\u00eb sindrom\u00ebs Barter (mbi t\u00eb tjerat \u00ebsht\u00eb prezente edhe hipokalemia dhe alkaloza metabolike). Tek hipokalcemia autosomale dominante niveli i PTH na serum \u00ebsht\u00eb normal ose i ul\u00ebt. N\u00eb nivelin e kalciumit n\u00eb gjak ndikojn\u00eb edhe faktor\u00eb t\u00eb jasht\u00ebm, ushqimi, cikli menstrual, stresi etj.<br \/>\nDaignoza p\u00ebrcaktohet me ekzaminime laboratorike, kurse v\u00ebrtetohet me analiz\u00eb gjenetike.<\/p>\n<p>Trajtimi<br \/>\nTrajtimi i cili ka p\u00ebr q\u00ebllim t\u00eb korigjohet niveli i kalciumit n\u00eb gjak duhet t\u00eb realizohet me kujdes, pasi q\u00eb \u00e7do ngritje e nivelit t\u00eb kalciumit n\u00eb gjak (madje edhe kur \u00ebsht\u00eb n\u00eb kufijt\u00eb e normales) nga ana e qelizave t\u00eb veshkave do t\u00eb perceptohet si hiperkalcemi dhe do t\u00eb shpie gjer tek ekskretim t\u00eb zmadhuar t\u00eb kalciumit n\u00eb urin\u00eb me mund\u00ebsi t\u00eb zhvillimit t\u00eb nefrokalcinoz\u00ebs dhe insuficienc\u00ebs renale. Q\u00ebllimi i tretmanit \u00ebsht\u00eb t\u00eb gjendet balans mes shenjave klinike t\u00eb hipokalcemis\u00eb dhe mbajtjes s\u00eb homeostaz\u00ebs s\u00eb kalciumit. Duhet t\u00eb monitorohet niveli i kalciumit n\u00eb urin\u00eb. Kujdes i ve\u00e7ant\u00eb duhet tu jepet f\u00ebmij\u00ebve pasi q\u00eb hipokalcemia kronike ka efekt negativ n\u00eb zhvillimin intelektual tek f\u00ebmija. Trajtimi konvencional p\u00ebrb\u00ebhet nga substituimi i 1 alfa Vitamin D i hidroksiluar, dozat tek f\u00ebmij\u00ebt jan\u00eb m\u00eb t\u00eb m\u00ebdha se sa te t\u00eb riturit p\u00ebr shkak t\u00eb ritjes. Gjithashtu jepen suplemente t\u00eb kalciumit dhe t\u00eb magneziumit. Nevojiten ekzaminime t\u00eb rregullta me ultraz\u00eb t\u00eb veshkave. Te pacient\u00ebt te t\u00eb cil\u00ebt nuk mund t\u00eb kontrollohet niveli i kalciumit n\u00eb urin\u00eb jepet edhe hidroklortiazida.<br \/>\nKoh\u00ebn e fundit jan\u00eb n\u00eb qasje preparate t\u00eb parathormon\u00ebs ekzogjene (FORSTEO, NATPARA) t\u00eb cil\u00ebt administrohen p\u00ebrmes pom\u00ebs infuzione gj\u00eb q\u00eb mund\u00ebson nivel t\u00eb kalciumit stab\u00ebl n\u00eb gjak, normalizim t\u00eb nivelit t\u00eb fosforit n\u00eb gjak dhe gjithashtu ka efekt n\u00eb zvog\u00eblimin e kalciumit n\u00eb urin\u00eb. Natpara \u00ebsht\u00eb i aprovuar nga FDA dhe EMA p\u00ebr trajtim afatgjat\u00eb t\u00eb pacient\u00ebve me hipoparatiroidiz\u00ebm.<\/p>\n<p>P\u00ebr momentin \u00ebsht\u00eb n\u00eb rrjedh\u00eb hulumtim klinik me parathormon\u00eb rekombinante e cila ka gjysm\u00eb jet\u00eb t\u00eb gjat\u00eb dhe administrohet nj\u00eb her\u00eb n\u00eb dit\u00eb n\u00eb m\u00ebnyr\u00eb subkutane. Gjithashtu n\u00eb rrjedh\u00eb e sip\u00ebr \u00ebsht\u00eb hulumtim klinik p\u00ebr praparat peroral t\u00eb parathormon\u00ebs. Kurse medikamenti i cili do t\u00eb ndikoj\u00eb n\u00eb nivel t\u00eb receptorit t\u00eb kalciumit si nj\u00eb inkibitor i ashtuquajtur Kalcilitik \u00ebsht\u00eb n\u00eb faz\u00ebn e dyt\u00eb klinike, ai do t\u00eb ket\u00eb efekt direkt n\u00eb receptorin duke e ngritur nivelin e kalciumit n\u00eb gjak nd\u00ebrsa do ta ul eliminimin e kalciumit p\u00ebrmes urin\u00ebs.<\/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>Hipokalcemia autosomale dominante Autosomal dominant hypocalcemia KNS \u041520.8 Sinonime: hipoparatiroidiz\u00ebm autosomal dominant, hipokalcemia hiperkalciurike familjare, hipokalcemia familjare Hipokalcemia autosomale dominante [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":106910,"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\/14-Autosomal-dominant-hypocalcemia-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/14-Autosomal-dominant-hypocalcemia-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"2983","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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