{"id":107065,"date":"2020-02-16T08:37:45","date_gmt":"2020-02-16T07:37:45","guid":{"rendered":"https:\/\/sdk.mk\/?p=107065"},"modified":"2020-02-16T08:37:45","modified_gmt":"2020-02-16T07:37:45","slug":"ju-njoftojme-me-semundjet-e-rralla-acidoza-tubulare-renale-distale","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/uncategorized-sq\/ju-njoftojme-me-semundjet-e-rralla-acidoza-tubulare-renale-distale\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: ACIDOZA TUBULARE RENALE DISTALE"},"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=xf0GwIPH-jU&amp;list=PLPGcigDEy-qj0I1um2ByEqy4a1IdVRjzf&amp;index=17&amp;t=0s\" target=\"_blank\" rel=\"noopener noreferrer\"><em><strong>Acidoza tubulare renale distale<\/strong><\/em><\/a><\/p>\n<p>KNS N25.8<\/p>\n<p>Distal renal tubular acidosis<br \/>\nAcidoza tubulare renale distale (ATRd) \u00ebsht\u00eb \u00e7rregullim q\u00eb karakterizohet me sekrecion t\u00eb \u00e7rregulluar t\u00eb sasis\u00eb neto t\u00eb acideve nga tubulet distale, dhe si rezultat shfaqet acidoza metabolike hiperklorike. Forma klasike \u00ebsht\u00eb shpesh e bashkangjitur me hipokalemi nd\u00ebrsa format tjera t\u00eb fituara t\u00eb ATRd mund t\u00eb jen\u00eb t\u00eb asocuara me hipokalemi, hiperkalemi ose normokalemi.<\/p>\n<p>Fillimi i s\u00ebmundjes mund t\u00eb shfaqet n\u00eb \u00e7fardo moshe, var\u00ebsisht nga shkaktari. Format trash\u00ebguese t\u00eb ATRd p\u00ebrfshijn\u00eb format autosomale dominante (AD) dhe autosomale recisive (AR). Tipi autosomal recisiv i s\u00ebmundjes i asocuar me anemi, \u00ebsht\u00eb i p\u00ebrshkruar n\u00eb Azin\u00eb Juglindore.<\/p>\n<p>Forma autosomale recisive t\u00eb acidoz\u00ebs tubulare renale distale shpesh diagnostikohen tek t\u00eb porsalindurit dhe te f\u00ebmij\u00ebt e vegj\u00ebl.<\/p>\n<p>Format autosomale dominante shpesh diagnostikohet tek adoleshent\u00ebt dhe pacient\u00ebt e ri.<\/p>\n<p>Pacient\u00ebt me acidoz\u00eb renale tubulare distale mund t\u00eb jen\u00eb pa simptoma ose klinikisht t\u00eb prezantohen me:<br \/>\nPoliuri \u2013 urinim me sasi t\u00eb madhe<br \/>\nPolidipsija \u2013 etje e shprehur<br \/>\nPlog\u00ebshti dhe lodhje (simptoma q\u00eb shfaqen si rezultat i hipokalemis\u00eb).<\/p>\n<p>Mos zhvillimi, rakitizmi, \u00e7rregullimi i rritjes (tek f\u00ebmij\u00ebt) dhe osteomalacia ose osteopenia (tek t\u00eb rriturit) jan\u00eb manifestime q\u00eb cil\u00ebt shfaqen si rezultat i humbjes s\u00eb kalciumit p\u00ebrmes urin\u00ebs dhe humbjen e krip\u00ebrave t\u00eb kalciumit nga eshtrat. Zakonisht shfaqet edhe hiperkalciuria, nefrolitijaza dhe nefrokalcinoza. Niveli i ul\u00ebt i kaliumit n\u00eb plazm\u00eb tek ata me form\u00ebn klasike, gjithashtu mund t\u00eb jet\u00eb shkak p\u00ebr aritmi t\u00eb zemr\u00ebs, paraliz\u00eb madje edhe vdekje, N\u00eb format recisive n\u00eb acidoz\u00ebs tubulare renale distale, shpesh shfaqet humbje e d\u00ebgjimit progresive dhe ireverzibile (e pakthyeshme).<\/p>\n<p>Acidoza tubulare renale distale mund t\u00eb jet\u00eb kondicion i trash\u00ebguar apo i fituar.<br \/>\nAcidoza tubulare renale distale forma autosomale dominante zakonisht \u00ebsht\u00eb pasoj\u00eb e mutacionit n\u00eb gjenin SLC4A1. Mutacionet n\u00eb ATPV1B1 gjenit jan\u00eb p\u00ebrgjegj\u00ebs p\u00ebr form\u00ebn autosomale recisive t\u00eb ATRd q\u00eb shoq\u00ebrohet me humbje d\u00ebgjimi.<\/p>\n<p>Forma autosomale recisive e acidoz\u00ebs tubulare renale distale pa humbje d\u00ebgjimi ose shfaqje e vonshme e humbjes s\u00eb d\u00ebgjimit kryesisht \u00ebsht\u00eb e p\u00ebrshkruar te pacient\u00ebt me mutacion t\u00eb gjenit ATP6V0A4 , por ekziston prerje pasi q\u00eb disa pacient\u00eb me k\u00ebt\u00eb mutacion e humbin t\u00eb d\u00ebgjuarin kurse disa tjer\u00eb jo. Format e fituara t\u00eb acidoz\u00ebs tubulare renale distale mendohet q\u00eb jan\u00eb t\u00eb shkaktuara nga s\u00ebmundje autoimmune, si\u00e7 jan\u00eb sindroma Sjogren ose shfaqen n\u00eb m\u00ebnyr\u00eb sekundare tek s\u00ebmundje tjera si\u00e7 jan\u00eb anemia e qelizave n\u00eb form\u00eb drap\u00ebri, lupusi sistemik, uropatia kronike obstruktive ose pas transplantit t\u00eb veshk\u00ebs.<\/p>\n<p>T\u00eb gjitha format e acidoz\u00ebs tubulare renale distale jan\u00eb me rrjedh\u00eb kronike dhe mund t\u00eb ken\u00eb efekt t\u00eb shprehur n\u00eb rritje dhe zhvillim.<\/p>\n<p>Terapia me alkaline \u00ebsht\u00eb trajtim standard (q\u00eb t\u00eb arrihet nivel normal i bikarbonateve n\u00eb serum). Zakonisht pacient\u00ebve u jepet bikarbonat t\u00eb natriumit ose citrat t\u00eb natriumit.<\/p>\n<p>Te f\u00ebmij\u00ebt jepen doza shum\u00eb t\u00eb m\u00ebdha, kurse t\u00eb rriturve u nevojiten doza shum\u00eb m\u00eb t\u00eb ulta. Kaliumi \u00ebsht\u00eb gjithashtu i nevojsh\u00ebm te pacient\u00ebt me hipokalemi dhe zakonisht preferohet citrat i kaliumit. Doza ndryshon sipas nivelit t\u00eb kaliumit n\u00eb gjak. Personat me hipekalemi duhet t\u00eb konsumojn\u00eb m\u00eb pak kalium p\u00ebrmes ushqimit dhe p\u00ebrmes terapive tjera.<\/p>\n<p>S\u00ebmundja karakterizohet me acidoz\u00eb metabolike hiperklorike. Paaft\u00ebsia p\u00ebr uljen e pH vler\u00ebs s\u00eb urines n\u00ebn 5.5 dhe anjon gapi pozitiv gjat\u00eb acidoz\u00ebs metabolike spontane \u00ebsht\u00eb indikator q\u00eb sygjeron se b\u00ebhet fjal\u00eb p\u00ebr k\u00ebt\u00eb s\u00ebmundje t\u00eb rrall\u00eb. Pacient\u00ebt gjithashtu shfaqin edhe humbje t\u00eb kaliumit p\u00ebrmes veshkave, p\u00ebrve\u00e7 te tipi hiperkalemik i k\u00ebsaj s\u00ebmundjeje.<\/p>\n<p>Testimi gjenetik molekular p\u00ebr nj\u00ebr\u00ebn nga mutacionet gjentike shkaktar\u00eb, gjithashtu mund ta v\u00ebrtetoj\u00eb diagnoz\u00ebn.<\/p>\n<p>Prevalenca e s\u00ebmundjes nuk dihet, por shum\u00eb shpesh nuk \u00ebsht\u00eb mjaftuesh\u00ebm e lajm\u00ebruar nga ana e pacient\u00ebve. Format trash\u00ebguese jan\u00eb m\u00eb t\u00eb shpeshta n\u00eb rajone me konsaguinitet t\u00eb lart\u00eb (gadishulli Arabik dhe Afrika veriore), kurse format e fituara m\u00eb shpesh hasen n\u00eb vendet perendimore.<\/p>\n<p>Format trash\u00ebguese t\u00eb s\u00ebmundjes trash\u00ebgohen n\u00eb m\u00ebnyr\u00eb autosomale dominante ose recisive dhe \u00ebsht\u00eb i mundsh\u00ebm k\u00ebshillimi gjenetik.<\/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>Acidoza tubulare renale distale KNS N25.8 Distal renal tubular acidosis Acidoza tubulare renale distale (ATRd) \u00ebsht\u00eb \u00e7rregullim q\u00eb karakterizohet me [&hellip;]<\/p>\n","protected":false},"author":24,"featured_media":107062,"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\/16-Distal-renal-tubular-acidosis-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2020\/02\/16-Distal-renal-tubular-acidosis-250x141.png","categoryNames":["Uncategorized"],"feature_caption":"","subtitle":"","views":"1740","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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