{"id":580,"date":"2020-07-01T07:44:44","date_gmt":"2020-07-01T04:44:44","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=580"},"modified":"2025-09-05T10:38:53","modified_gmt":"2025-09-05T07:38:53","slug":"hyperkalsemia","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/hyperkalsemia\/","title":{"rendered":"Hyperkalsemia"},"content":{"rendered":"<p class=\"genediag_paragraph\">Familiaalinen hypokalsinurinen hyperkalsemia (FHH, OMIM <a href=\"https:\/\/www.omim.org\/entry\/145980\" target=\"_blank\" rel=\"noopener\">145980<\/a>, <a href=\"https:\/\/www.omim.org\/entry\/145981\" target=\"_blank\" rel=\"noopener\">145981<\/a> ja <a href=\"https:\/\/www.omim.org\/entry\/600740\" target=\"_blank\" rel=\"noopener\">600740<\/a> ) johtuu &#8217;calcium-sensing&#8217; reseptoria koodittavan geenin (<em>CASR<\/em>), saman reseptorin G-proteiini alayksik\u00f6n \u03b111 koodittavan geenin <em>GNA11<\/em> tai\u00a0<em>AP2S1<\/em>-geenin inaktivoivista geenivirheist\u00e4. Neonataalissa vaikeassa hyperparatyreoosissa on\u00a0<em>CASR<\/em>-geeniss\u00e4 inaktivoivia geenivirheit\u00e4, jotka selitt\u00e4v\u00e4t kalsium-tason nousun ja niukan kalsiumin erityksen virtsaan.<\/p>\n<p class=\"genediag_paragraph\">Familiaalinen isoloitu primaarinen hyperparatyreoosi (FIHP, OMIM <a href=\"https:\/\/www.omim.org\/entry\/145000\" target=\"_blank\" rel=\"noopener\">145000<\/a>) on autosomissa dominantisti periytyv\u00e4 harvinainen sairaus (1 % kaikista hyperparatyreoosipotilaista), joka johtuu <em>CASR<\/em>-,\u00a0<em>MEN1<\/em>&#8211; ja\u00a0<em>CDC73<\/em>\u00a0(<em>HRPT2<\/em>) -geenivirheist\u00e4. T\u00e4h\u00e4n sairauteen ei liity muita endokriinisi\u00e4 h\u00e4iri\u00f6it\u00e4 eik\u00e4 tuumoreita. Kalsiumia tunnistava reseptori (CaR) on G-proteiin liittyv\u00e4 reseptori, mik\u00e4 ilmentyy eritoten lis\u00e4kilpirauhasissa, munuaisissa ja kilpirauhasessa (C-solut), joissa se aistii ekstrasellulaarisen kalsiumtason muutoksia. CaR:n aktivaatio est\u00e4\u00e4 PTH:n erityst\u00e4 ja lis\u00e4\u00e4 kalsiumin erityst\u00e4 virtsaan.<\/p>\n<p>Hyperparatyreoosissa, johon liittyy leukatuumoreita (Hyperparathyreoidism-jaw-tumor syndrome, OMIM <a href=\"https:\/\/www.omim.org\/entry\/145001\" target=\"_blank\" rel=\"noopener\">145001<\/a>) eli HRPT2-syndroomassa lis\u00e4kilpirauhaskasvaimet voivat olla kystisi\u00e4 adenoomia tai pahanlaatuisia. Pahanlaatuisissa lis\u00e4kilpirauhasen kasvaimissa <em>CDC73<\/em>\u00a0(<em>HRPT2<\/em>)-geenin molemmat alleelit ovat l\u00e4hes 100 % tapauksista mutatoituneet, mutta vain 30 %:lla on ituradan variantti. T\u00e4m\u00e4n vuoksi geenidiagnostiikka pit\u00e4isi tehd\u00e4 ensi sijaisesti tuumorista.<\/p>\n<p>Multippeli endokriininen neoplasia MEN1-, MEN2A- ja MEN4-oireyhtymiss\u00e4 (OMIM <a href=\"https:\/\/www.omim.org\/entry\/131100\" target=\"_blank\" rel=\"noopener\">131100<\/a>, <a href=\"https:\/\/www.omim.org\/entry\/171400\" target=\"_blank\" rel=\"noopener\">171400<\/a> ja <a href=\"https:\/\/www.omim.org\/entry\/610755\" target=\"_blank\" rel=\"noopener\">610755<\/a>) lis\u00e4kilpirauhasissa voi olla kasvaimia, jotka voivat johtaa parathormonin liikaeritykseen ja t\u00e4ten hyperkalsemiaan. N\u00e4m\u00e4 sairaudet aiheutuvat geenivirheist\u00e4 seuraavissa geeneiss\u00e4: <em>MEN1<\/em>\u00a0(MEN1),\u00a0<em>RET<\/em>\u00a0(MEN2A) ja\u00a0<em>CDKN1B<\/em>\u00a0(MEN4).<\/p>\n<p>Perinn\u00f6llinen hypofosfateeminen riisitauti ja hyperkalsinuria johtuvat\u00a0<em>SLC34A3<\/em>-geenin virheist\u00e4 (OMIM <a href=\"https:\/\/www.omim.org\/entry\/241530\" target=\"_blank\" rel=\"noopener\">241530<\/a>).<\/p>\n<p>Yksitt\u00e4isten geenien koodaavien alueiden sekvensointiin k\u00e4ytet\u00e4\u00e4n perinteist\u00e4 kapillaarisekvensointia (Sanger). Deleetioanalyysit suoritetaan kapillaarisekvensointilaitteella MLPA-menetelm\u00e4ll\u00e4.<\/p>\n\n\n<p><a href=\"https:\/\/sites.uef.fi\/genediagnostics\/wp-content\/uploads\/sites\/100\/2025\/09\/Hyperkalsemia_Tutkimuspyynto_2025.pdf\">Tutkimuspyynt\u00f6lomake<\/a><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familiaalinen hypokalsinurinen hyperkalsemia (FHH, OMIM 145980, 145981 ja 600740 ) johtuu &#8217;calcium-sensing&#8217; reseptoria koodittavan geenin (CASR), saman reseptorin G-proteiini alayksik\u00f6n \u03b111 koodittavan geenin GNA11 tai\u00a0AP2S1-geenin inaktivoivista geenivirheist\u00e4. Neonataalissa vaikeassa hyperparatyreoosissa on\u00a0CASR-geeniss\u00e4 inaktivoivia geenivirheit\u00e4, jotka selitt\u00e4v\u00e4t kalsium-tason nousun ja niukan kalsiumin erityksen virtsaan. Familiaalinen isoloitu primaarinen hyperparatyreoosi (FIHP, OMIM 145000) on autosomissa dominantisti periytyv\u00e4 harvinainen sairaus [&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-580","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>Hyperkalsemia - 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\/hyperkalsemia\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hyperkalsemia - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"Familiaalinen hypokalsinurinen hyperkalsemia (FHH, OMIM 145980, 145981 ja 600740 ) johtuu &#8217;calcium-sensing&#8217; reseptoria koodittavan geenin (CASR), saman reseptorin G-proteiini alayksik\u00f6n \u03b111 koodittavan geenin GNA11 tai\u00a0AP2S1-geenin inaktivoivista geenivirheist\u00e4. Neonataalissa vaikeassa hyperparatyreoosissa on\u00a0CASR-geeniss\u00e4 inaktivoivia geenivirheit\u00e4, jotka selitt\u00e4v\u00e4t kalsium-tason nousun ja niukan kalsiumin erityksen virtsaan. 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