{"id":481,"date":"2020-06-30T13:53:57","date_gmt":"2020-06-30T10:53:57","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=481"},"modified":"2025-01-16T11:33:27","modified_gmt":"2025-01-16T09:33:27","slug":"481-2","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/481-2\/","title":{"rendered":"Synnynn\u00e4inen hyperinsulinemia"},"content":{"rendered":"<p class=\"genediag_paragraph\">Synnynn\u00e4isen hyperinsulinemian (CHI-taudin) geneettist\u00e4 tutkimusta suositellaan tilanteissa, joissa lapsella vastasyntyneen\u00e4 tai ensimm\u00e4isten elinvuosien aikana todetaan pitkittynyt ei-ketoottinen hypoglykemia tai l\u00e4hisuvussa on aiemmin todettu synnynn\u00e4iseen hyperinsulinemiaan johtava geenimuutos.<\/p>\n<p>Tutkimuksissa seulotaan kaksi sulfonyyliureareseptori 1 -geenin (<em>ABCC8<\/em>, HHF1 OMIM <a href=\"https:\/\/www.omim.org\/entry\/256450\">256450<\/a>) suomalaista valtavarianttia, jotka selitt\u00e4v\u00e4t noin 50 % kaikista suomalaisista tautitapauksista (Huopio et al. J Clin Endocrinol Metab 2002).<\/p>\n<ul>\n<li class=\"genediag_paragraph\">NC_000011.9:g.17485004A&gt;T, NM_000352.6:c.560T&gt;A, NP_000343.2:p.Val187Asp, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/9099\/?oq=((24138[AlleleID]))&amp;m=NM_000352.6(ABCC8):c.560T%3EA%20(p.Val187Asp)\">rs137852672<\/a><\/li>\n<li class=\"genediag_paragraph\">NC_000011.9:g.17415842C&gt;T, NM_000352.6:c.4516G&gt;A, NP_000343.2:p.Glu1506Lys, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/9097\/?oq=rs137852671&amp;m=NM_000352.6(ABCC8):c.4516G%3EA%20(p.Glu1506Lys)\">rs137852671<\/a><\/li>\n<\/ul>\n<p class=\"genediag_paragraph\">Varianttien erottaminen toisistaan on t\u00e4rke\u00e4\u00e4, koska niihin liittyv\u00e4t sairauden ilmenemismuodot, hoitolinjat ja ennuste poikkeavat selv\u00e4sti toisistaan.<br \/>\nMik\u00e4li tutkitusta n\u00e4ytteest\u00e4 ei l\u00f6ydy kumpaakaan valtavarianttia, voidaan tutkimusta jatkaa\u00a0<em>ABCC8<\/em>&#8211; (SUR1, HHF1, OMIM <a href=\"https:\/\/www.omim.org\/entry\/256450\">256450<\/a>),\u00a0<em>KCNJ11<\/em>&#8211; (KIR6.2, HHF2, OMIM <a href=\"https:\/\/www.omim.org\/entry\/601820\">601820<\/a>) \u00a0-geenien sekvensoinnilla ja <em>ABCC8<\/em>-geenin deleetioanalyysill\u00e4 sek\u00e4 <em>GCK<\/em> -geenin (HHF3, OMIM <a href=\"https:\/\/www.omim.org\/entry\/602485\">602485<\/a>) sekvensoinnilla ja\u00a0deleetioanalyysill\u00e4.<\/p>\n<p>Harvinaisia synnynn\u00e4isen hyperinsulinemian aiheuttajia ovat muutokset seuraavissa geeneiss\u00e4:<br \/>\n<em>GLUD1<\/em> (OMIM <a href=\"https:\/\/www.omim.org\/entry\/606762\">606762<\/a>, HHF6),<br \/>\n<em>HADH<\/em> (OMIM <a href=\"https:\/\/www.omim.org\/entry\/609975\">609975<\/a>, HHF4),<br \/>\n<em>HNF4A<\/em> (OMIM <a href=\"https:\/\/www.omim.org\/entry\/600281\">600281<\/a>, HNF4),<br \/>\n<em>UCP2<\/em>\u00a0(Nature genetics, DOI: <a href=\"https:\/\/www.nature.com\/articles\/ng0397-269\">10.1038\/ng0397-269<\/a>)<br \/>\n<em>SLC16A1<\/em>\u00a0(OMIM <a href=\"https:\/\/www.omim.org\/entry\/610021\">610021<\/a>, rasitukseen liittyv\u00e4 hypoglykemia HHF7),<br \/>\n<em>SLC2A2\u00a0<\/em>(<em>GLUT2<\/em>) (OMIM <a href=\"https:\/\/www.omim.org\/entry\/138160\">138160<\/a>, SLC2A2),<br \/>\n<em>PTF1A\u00a0<\/em> (OMIM <a href=\"https:\/\/www.omim.org\/entry\/607194\">607194<\/a>, PTF1A)<br \/>\n<em>EIF2AK3<\/em> (OMIM <a href=\"https:\/\/www.omim.org\/entry\/604032\">604032<\/a>, EIF2AK3)<\/p>\n<p>Valtavariantit analysoidaan TaqMan-menetelm\u00e4ll\u00e4. Geenien koodaavien alueiden sekvensointiin k\u00e4ytet\u00e4\u00e4n uuden sukupolven sekvensointiteknologiaa tai perinteist\u00e4 kapillaarisekvensointia. 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\/01\/CHI_Tutkimuspyynto_2025.pdf\">Tutkimuspyynt\u00f6lomake<\/a><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Synnynn\u00e4isen hyperinsulinemian (CHI-taudin) geneettist\u00e4 tutkimusta suositellaan tilanteissa, joissa lapsella vastasyntyneen\u00e4 tai ensimm\u00e4isten elinvuosien aikana todetaan pitkittynyt ei-ketoottinen hypoglykemia tai l\u00e4hisuvussa on aiemmin todettu synnynn\u00e4iseen hyperinsulinemiaan johtava geenimuutos. Tutkimuksissa seulotaan kaksi sulfonyyliureareseptori 1 -geenin (ABCC8, HHF1 OMIM 256450) suomalaista valtavarianttia, jotka selitt\u00e4v\u00e4t noin 50 % kaikista suomalaisista tautitapauksista (Huopio et al. J Clin Endocrinol Metab 2002). [&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-481","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>Synnynn\u00e4inen hyperinsulinemia - 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\/481-2\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Synnynn\u00e4inen hyperinsulinemia - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"Synnynn\u00e4isen hyperinsulinemian (CHI-taudin) geneettist\u00e4 tutkimusta suositellaan tilanteissa, joissa lapsella vastasyntyneen\u00e4 tai ensimm\u00e4isten elinvuosien aikana todetaan pitkittynyt ei-ketoottinen hypoglykemia tai l\u00e4hisuvussa on aiemmin todettu synnynn\u00e4iseen hyperinsulinemiaan johtava geenimuutos. Tutkimuksissa seulotaan kaksi sulfonyyliureareseptori 1 -geenin (ABCC8, HHF1 OMIM 256450) suomalaista valtavarianttia, jotka selitt\u00e4v\u00e4t noin 50 % kaikista suomalaisista tautitapauksista (Huopio et al. J Clin Endocrinol Metab 2002). 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Tutkimuksissa seulotaan kaksi sulfonyyliureareseptori 1 -geenin (ABCC8, HHF1 OMIM 256450) suomalaista valtavarianttia, jotka selitt\u00e4v\u00e4t noin 50 % kaikista suomalaisista tautitapauksista (Huopio et al. J Clin Endocrinol Metab 2002). 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