{"id":165710,"date":"2022-02-10T08:54:03","date_gmt":"2022-02-10T07:54:03","guid":{"rendered":"https:\/\/sdk.mk\/?p=165710"},"modified":"2022-02-10T08:54:03","modified_gmt":"2022-02-10T07:54:03","slug":"ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPOMAGNEZEMIA, HIPERKALCIURIA DHE NEFROKALCINOZA FAMILJARE"},"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 class=\"western\"><em><strong>Hipomagnezemia, hiperkalciuria dhe nefrokalcinoza familjare\/Familial hypomagnesemi\u0430, hypercalciuria and nephrocalcinosis<\/strong><\/em><\/p>\n<p class=\"western\">ICD: E 83.4<\/p>\n<p class=\"western\">Prevalenca: 1\/1.000.000<\/p>\n<p class=\"western\">Hipomagnezemia familjare, nivelet e ul\u00ebta t\u00eb magnezit n\u00eb gjak e shoq\u00ebruar nga hiperkalciuria (rritje e sekretimit urinar t\u00eb kalciumit) dhe nefrokalcinoza (akumulimi i kalciumit n\u00eb veshk\u00eb) \u00ebsht\u00eb nj\u00eb s\u00ebmundje e rrall\u00eb autosomale recesive e karakterizuar nga humbja e magnezit dhe zhvillimi i nefrokalcinoz\u00ebs dhe gur\u00ebve n\u00eb veshka n\u00eb f\u00ebmij\u00ebrin\u00eb e hershme. Shpesh shoq\u00ebrohet me insuficienc\u00eb progresive renale n\u00eb f\u00ebmij\u00ebri ose adoleshenc\u00eb. Pacient\u00ebt kan\u00eb infeksione t\u00eb shpeshta t\u00eb traktit urinar, urinojn\u00eb n\u00eb sasi t\u00eb m\u00ebdha m\u00eb shum\u00eb se 3 litra n\u00eb 24 or\u00eb, kan\u00eb etje t\u00eb shoq\u00ebruar me marrje t\u00eb shtuar t\u00eb l\u00ebngjeve, vonim t\u00eb rritjes, dhimbje barku, humbje t\u00eb shikimit, l\u00ebvizje t\u00eb pakontrolluar t\u00eb syve &#8211; nistagmus, dhe simptoma t\u00eb tjera oftalmike. Diagnostikimi \u00ebsht\u00eb zakonisht midis 1-8 vjet, dhe haset m\u00eb shpesh tek vajzat sesa tek djemt\u00eb. Hipomagnezemia familjare u p\u00ebrshkrua p\u00ebr her\u00eb t\u00eb par\u00eb n\u00eb 1969, por u klasifikua n\u00eb m\u00ebnyr\u00eb t\u00eb p\u00ebrshtatshme n\u00eb 1987. Deri m\u00eb tani, rreth 200 raste jan\u00eb raportuar n\u00eb literatur\u00eb.<\/p>\n<p class=\"western\"><strong>Shkaqet:<\/strong><\/p>\n<p class=\"western\">Hipomagnezemia familjare me hiperkalciuri dhe nefrokalcinoz\u00eb \u00ebsht\u00eb nj\u00eb s\u00ebmundje autosomale recesive e shkaktuar nga mutacionet n\u00eb gjenin q\u00eb kodifikon protein\u00ebn klaudin-16 dhe gjenin q\u00eb kodifikon protein\u00ebn klaudin-19.<\/p>\n<p class=\"western\">N\u00eb var\u00ebsi t\u00eb faktit se cili prej dy gjeneve \u00ebsht\u00eb me mutacion, simptomat do t\u00eb varen, dhe p\u00ebrshkruhen dy n\u00ebntipe t\u00eb k\u00ebsaj s\u00ebmundjeje. P\u00ebrkat\u00ebsisht hipomagnezemia familjare me hiperkalciuri dhe nefrokalcinoz\u00eb, dhe hipomagnezemia familjare me hiperkalciuri dhe nefrocalcinoz\u00eb me p\u00ebrfshirje t\u00eb syrit. T\u00eb dy proteinat jan\u00eb t\u00eb vendosura n\u00eb krahun ngjit\u00ebs t\u00eb lakut Henle dhe luajn\u00eb nj\u00eb rol n\u00eb rithithjen tubulare t\u00eb magnezit dhe kalciumit n\u00eb veshk\u00eb.<\/p>\n<p class=\"western\">P\u00ebrve\u00e7 lakut Henle, proteina claudin-19 gjendet gjithashtu n\u00eb epitelin e pigmentit t\u00eb retin\u00ebs, nga aty pasojn\u00eb simptomat q\u00eb lidhen me shikimin.<\/p>\n<p class=\"western\"><strong>Simptomat:<\/strong><\/p>\n<p class=\"western\">Infeksionet e shpeshta t\u00eb traktit urinar tek k\u00ebta pacient\u00eb shfaqen q\u00eb nga f\u00ebmij\u00ebria e hershme. P\u00ebrve\u00e7 k\u00ebsaj, shenjat m\u00eb t\u00eb zakonshme jan\u00eb nefrokalcinoza, gur\u00ebt n\u00eb veshka, rritja e prodhimit t\u00eb urin\u00ebs, etja e madhe dhe marrja e l\u00ebngjeve, ngecja n\u00eb rritje dhe zhvillim, dhe dhimbje barku. Te disa pacient\u00eb jan\u00eb raportuar dhimbje dhe ng\u00ebr\u00e7e muskulore p\u00ebr shkak t\u00eb niveleve t\u00eb ulura t\u00eb magnezit. Me kalimin e koh\u00ebs, m\u00eb s\u00eb shpeshti n\u00eb adoleshenc\u00eb, n\u00eb disa raste dhe m\u00eb von\u00eb, n\u00eb dekad\u00ebn e tret\u00eb t\u00eb jet\u00ebs, s\u00ebmundja kulmon n\u00eb insuficienc\u00ebn progresive renale. N\u00eb rastet m\u00eb t\u00eb r\u00ebnda, te pacient\u00ebt me nj\u00eb mutacion t\u00eb protein\u00ebs klaudin-19 zhvillojn\u00eb koloboma makulare, nistagmus dhe humbje t\u00eb shikimit.<\/p>\n<p class=\"western\"><strong>Diagnoza:<\/strong><\/p>\n<p class=\"western\">Diagnostikimi i k\u00ebsaj s\u00ebmundjeje bazohet n\u00eb nj\u00eb treshe simptomash: hipomagnezemia, hiperkalciuria dhe nefrokalcinoza. Nj\u00eb ekosonografi e traktit urinar tregon depozitimin e kalciumit n\u00eb indet e veshkave. Ulja e kalciumit dhe rritja e acidit urik n\u00eb gjak jan\u00eb vet\u00ebm shenja shoq\u00ebruese. N\u00eb k\u00ebt\u00eb s\u00ebmundje, nivelet e hormoneve paratiroide jan\u00eb t\u00eb larta para fillimit t\u00eb s\u00ebmundjes kronike t\u00eb veshkave. Ndryshimet e syve zbulohen me ndihm\u00ebn e nj\u00eb ekzaminimi t\u00eb holl\u00ebsish\u00ebm oftalmologjik, dmth me ekzaminimin e fundusit. Sidoqoft\u00eb, nj\u00eb diagnoz\u00eb p\u00ebrfundimtare b\u00ebhet me an\u00eb t\u00eb konfirmimit gjenetik p\u00ebr nj\u00eb mutacion n\u00eb gjenet klaudin-16 dhe klaudin-19. Trash\u00ebgimia \u00ebsht\u00eb autosomale recesive. K\u00ebshillimi gjenetik duhet t&#8217;u ofrohet \u00e7ifteve n\u00eb rrezik (t\u00eb dy individ\u00ebt jan\u00eb bart\u00ebs t\u00eb mutacionit q\u00eb shkakton s\u00ebmundjen) p\u00ebr t&#8217;u informuar se ka 25% mund\u00ebsi p\u00ebr t\u00eb lindur nj\u00eb f\u00ebmij\u00eb me k\u00ebt\u00eb s\u00ebmundje. Diagnoza diferenciale p\u00ebrfshin sindrom\u00ebn Barter, hipokalcemin\u00eb autosomale dominante, s\u00ebmundjen e Dent, acidoz\u00ebn tubulare renale distale, rakitizmin e trash\u00ebguar hipofosfatematik me hiperkalciuri dhe \u00e7rregullime tubulare q\u00eb n\u00eb p\u00ebrgjith\u00ebsi shkaktojn\u00eb nefrokalcinoz\u00eb t\u00eb hershme.<\/p>\n<p class=\"western\"><strong>Pasojat:<\/strong><\/p>\n<p class=\"western\">Pasoja e hipomagnezemis\u00eb familjare me hiperkalciuri dhe nefrokalcinoz\u00eb \u00ebsht\u00eb faza terminale e insuficienc\u00ebs renale q\u00eb shfaqet te 50% e pacient\u00ebve gjer n\u00eb mosh\u00ebn 20 vje\u00e7e. Pacient\u00ebt me nj\u00eb mutacion t\u00eb protein\u00ebs klaudin-19 kan\u00eb nj\u00eb rrezik m\u00eb t\u00eb lart\u00eb p\u00ebr t\u00eb zhvilluar s\u00ebmundje kronike t\u00eb veshkave.<\/p>\n<p class=\"western\"><strong>Trajtimi:<\/strong><\/p>\n<p class=\"western\">Trajtimi p\u00ebrfshin suplemente t\u00eb magnezit si dhe diuretik\u00eb tiazid\u00eb p\u00ebr t\u00eb zvog\u00ebluar sekretimin urinar t\u00eb kalciumit dhe p\u00ebrparimin e nefrokalcinoz\u00ebs. Terapia ka p\u00ebr q\u00ebllim t\u00eb vonoj\u00eb progresin e s\u00ebmundjes kronike t\u00eb veshkave. Transplantimi i veshkave \u00ebsht\u00eb trajtimi optimal p\u00ebr k\u00ebt\u00eb s\u00ebmundje. Te ata pacient\u00eb q\u00eb vuajn\u00eb nga inflamacioni i r\u00ebnd\u00eb i syrit, rekomandohet gjithashtu implantimi i thjerr\u00ebz\u00ebs n\u00eb sy.<\/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>Hipomagnezemia, hiperkalciuria dhe nefrokalcinoza familjare\/Familial hypomagnesemi\u0430, hypercalciuria and nephrocalcinosis ICD: E 83.4 Prevalenca: 1\/1.000.000 Hipomagnezemia familjare, nivelet e ul\u00ebta t\u00eb [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":165712,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[56969],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/10-Familial-hypomagnesemia-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/10-Familial-hypomagnesemia-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"146","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 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPOMAGNEZEMIA, HIPERKALCIURIA DHE NEFROKALCINOZA FAMILJARE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: HIPOMAGNEZEMIA, HIPERKALCIURIA DHE NEFROKALCINOZA FAMILJARE - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Hipomagnezemia, hiperkalciuria dhe nefrokalcinoza familjare\/Familial hypomagnesemi\u0430, hypercalciuria and nephrocalcinosis ICD: E 83.4 Prevalenca: 1\/1.000.000 Hipomagnezemia familjare, nivelet e ul\u00ebta t\u00eb [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-10T07:54:03+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/10-Familial-hypomagnesemia-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"1080\" \/>\n<meta property=\"fb:app_id\" content=\"2407985809428537\" \/>\n<meta name=\"twitter:card\" content=\"summary\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sdk.mk\/#website\",\"url\":\"https:\/\/sdk.mk\/\",\"name\":\"\\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"description\":\"\\u0417\\u0430 \\u0441\\u043b\\u043e\\u0431\\u043e\\u0434\\u043e\\u0443\\u043c\\u043d\\u0438\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":\"https:\/\/sdk.mk\/?s={search_term_string}\",\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"mk-MK\"},{\"@type\":\"ImageObject\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/#primaryimage\",\"inLanguage\":\"mk-MK\",\"url\":\"https:\/\/sdk.mk\/wp-content\/uploads\/2022\/02\/10-Familial-hypomagnesemia-1.png\",\"width\":1920,\"height\":1080},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/#webpage\",\"url\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/\",\"name\":\"JU NJOFTOJM\\u00cb ME S\\u00cbMUNDJET E RRALLA: HIPOMAGNEZEMIA, HIPERKALCIURIA DHE NEFROKALCINOZA FAMILJARE - \\u0421\\u0430\\u043a\\u0430\\u043c \\u0414\\u0430 \\u041a\\u0430\\u0436\\u0430\\u043c\",\"isPartOf\":{\"@id\":\"https:\/\/sdk.mk\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/#primaryimage\"},\"datePublished\":\"2022-02-10T07:54:03+00:00\",\"dateModified\":\"2022-02-10T07:54:03+00:00\",\"author\":{\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\"},\"inLanguage\":\"mk-MK\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-hipomagnezemia-hiperkalciuria-dhe-nefrokalcinoza-familjare\/\"]}]},{\"@type\":\"Person\",\"@id\":\"https:\/\/sdk.mk\/#\/schema\/person\/7019cceac18d709c135f468280bbf1e6\",\"name\":\"Goran Konev\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","_links":{"self":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/165710"}],"collection":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/users\/22"}],"replies":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/comments?post=165710"}],"version-history":[{"count":0,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/posts\/165710\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media\/165712"}],"wp:attachment":[{"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/media?parent=165710"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/categories?post=165710"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sdk.mk\/index.php\/wp-json\/wp\/v2\/tags?post=165710"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}