{"id":664,"date":"2020-07-01T07:51:31","date_gmt":"2020-07-01T04:51:31","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=664"},"modified":"2025-12-17T14:57:15","modified_gmt":"2025-12-17T12:57:15","slug":"liddlen-syndrooma","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/liddlen-syndrooma\/","title":{"rendered":"Liddlen syndrooma"},"content":{"rendered":"<p class=\"genediag_paragraph\">Liddlen syndrooma (OMIM <a href=\"https:\/\/omim.org\/entry\/177200\">177200<\/a> (tyyppi 1), <a href=\"https:\/\/omim.org\/entry\/618114\">618114<\/a> (tyyppi 2)) on autosomissa dominantisti periytyv\u00e4 sairaus, jolle on tyypillist\u00e4 varhaisella i\u00e4ll\u00e4 alkava verenpaineen kohoaminen, hypokalemia, hypoaldosteronismi ja hyporeninismi. Taudinkuva vaihtelee kuitenkin suuresti eri perheiss\u00e4, joissa t\u00e4m\u00e4 tauti esiintyy. Liddlen syndrooman aiheuttavat aktivoivat geenivirheet niiss\u00e4 geeneiss\u00e4, jotka koodaavat epiteliaalisen natriumkanavan (ENaC) kahta alayksikk\u00f6\u00e4 (\u03b2ENaC ja \u03b3ENaC). ENaC s\u00e4\u00e4telee natriumin reabsorptiota munuaisissa, solunulkoisen nesteen tilavuutta ja t\u00e4ten systeemist\u00e4 verenpainetta. Suurentunut ENaC-aktiivisuus aiheuttaa natriumin kertymist\u00e4 kehoon ja varhain kehittyv\u00e4n verenpaineen nousun. Liddlen syndrooma on harvinainen eik\u00e4 sen esiintyvyytt\u00e4 Suomessa tiedet\u00e4, mutta se on yleisin monogeenisist\u00e4 verenpaineen nousua aiheuttavista sairauksista.<\/p>\n<p>Geenidiagnostiikka tehd\u00e4\u00e4n sekvensoimalla ENaC-alayksik\u00f6it\u00e4 koodaavat geenit\u00a0<em>SCNN1B<\/em>\u00a0ja\u00a0<em>SCNN1G<\/em>. Valtaosa geenivirheist\u00e4 (aminohappo- ja &#8217;frameshift&#8217; -muutokset) sijaitsevat\u00a0<em>SCNN1B<\/em>-geeniss\u00e4.<\/p>\n<p>Geenien koodaavien alueiden sekvensointiin k\u00e4ytet\u00e4\u00e4n perinteist\u00e4 kapillaarisekvensointia tai uuden sukupolven sekvensointiteknologiaa.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Liddlen syndrooma (OMIM 177200 (tyyppi 1), 618114 (tyyppi 2)) on autosomissa dominantisti periytyv\u00e4 sairaus, jolle on tyypillist\u00e4 varhaisella i\u00e4ll\u00e4 alkava verenpaineen kohoaminen, hypokalemia, hypoaldosteronismi ja hyporeninismi. Taudinkuva vaihtelee kuitenkin suuresti eri perheiss\u00e4, joissa t\u00e4m\u00e4 tauti esiintyy. Liddlen syndrooman aiheuttavat aktivoivat geenivirheet niiss\u00e4 geeneiss\u00e4, jotka koodaavat epiteliaalisen natriumkanavan (ENaC) kahta alayksikk\u00f6\u00e4 (\u03b2ENaC ja \u03b3ENaC). ENaC s\u00e4\u00e4telee [&hellip;]<\/p>\n","protected":false},"author":203,"featured_media":511,"parent":137,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-664","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Liddlen syndrooma - Geenidiagnostiikka<\/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:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/liddlen-syndrooma\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Liddlen syndrooma - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"Liddlen syndrooma (OMIM 177200 (tyyppi 1), 618114 (tyyppi 2)) on autosomissa dominantisti periytyv\u00e4 sairaus, jolle on tyypillist\u00e4 varhaisella i\u00e4ll\u00e4 alkava verenpaineen kohoaminen, hypokalemia, hypoaldosteronismi ja hyporeninismi. 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