{"id":1361,"date":"2025-08-01T13:30:00","date_gmt":"2025-08-01T04:30:00","guid":{"rendered":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/?p=1361"},"modified":"2025-10-28T13:45:40","modified_gmt":"2025-10-28T04:45:40","slug":"case-report-kic3-variants-in-tricho-hepato-enteric-syndrome-with-hemochromatosis","status":"publish","type":"post","link":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/2025\/08\/case-report-kic3-variants-in-tricho-hepato-enteric-syndrome-with-hemochromatosis\/","title":{"rendered":"Case report: KIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis"},"content":{"rendered":"\n<p>\u5f53\u8b1b\u5ea7\u306e\u963f\u842c\u52a9\u6559\u3089\u304c\u5171\u8457\u3068\u306a\u308a\u3001SKIC3\u907a\u4f1d\u5b50\u306e\u65b0\u898f\u5909\u7570\u306b\u3088\u308bTricho-hepato-enteric syndrome\uff08THES\uff09\u306b\u65b0\u751f\u5150\u3078\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u3092\u5408\u4f75\u3057\u305f\u75c7\u4f8b\u3092\u5831\u544a\u3057\u307e\u3057\u305f\u3002<br data-start=\"318\" data-end=\"321\" \/>\u672c\u75be\u60a3\u306f\u3001\u96e3\u6cbb\u6027\u4e0b\u75e2\u3084\u6bdb\u9aea\u7570\u5e38\u3001\u809d\u969c\u5bb3\u306a\u3069\u3092\u7279\u5fb4\u3068\u3059\u308b\u6975\u3081\u3066\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3\u3067\u3059\u3002\u4eca\u56de\u3001\u6bcd\u7531\u6765\u306e\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff08c.815_816del\uff09\u3068\u7236\u7531\u6765\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08c.2284G&gt;A\uff09\u3068\u3044\u3046SKIC3\u306e\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3057\u305f\u3002<br \/>\u672c\u8b1b\u5ea7\u3067\u306f\u3001\u5256\u691c\u3067\u306e\u809d\u30d8\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u306e\u8a73\u7d30\u306a\u8a55\u4fa1\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<br \/>\u672c\u75c7\u4f8b\u306f\u3001THES\u3068\u65b0\u751f\u5150\u3078\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u306e\u95a2\u9023\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u793a\u3057\u305f\u521d\u306e\u5831\u544a\u3067\u3042\u308a\u3001SKIC3\u6a5f\u80fd\u7570\u5e38\u3068\u9244\u4ee3\u8b1d\u7570\u5e38\u306e\u95a2\u4fc2\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u77e5\u898b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<br \/><br \/>Ochiai K, Aoki Y, Yamada N, Aman M, Yamashita A, Yamaguchi M, Nakato D, Takenouchi T, Kosaki K, Kodama Y, Moritake H. Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis. Hum Genome Var. 2025;12:14. <br \/><a href=\"https:\/\/doi.org\/10.1038\/s41439-025-00318-y\">doi: 10.1038\/s41439-025-00318-y.\u00a0<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u5f53\u8b1b\u5ea7\u306e\u963f\u842c\u52a9\u6559\u3089\u304c\u5171\u8457\u3068\u306a\u308a\u3001SKIC3\u907a\u4f1d\u5b50\u306e\u65b0\u898f\u5909\u7570\u306b\u3088\u308bTricho-hepato-enteric syndrome\uff08THES\uff09\u306b\u65b0\u751f\u5150\u3078\u30e2\u30af\u30ed\u30de\u30c8\u30fc\u30b7\u30b9\u3092\u5408\u4f75\u3057\u305f\u75c7\u4f8b\u3092\u5831\u544a\u3057\u307e\u3057\u305f\u3002\u672c\u75be\u60a3\u306f\u3001\u96e3\u6cbb\u6027\u4e0b\u75e2\u3084\u6bdb\u9aea\u7570 &hellip; <a href=\"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/2025\/08\/case-report-kic3-variants-in-tricho-hepato-enteric-syndrome-with-hemochromatosis\/\">Continue reading <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":96,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mi_skip_tracking":false},"categories":[9],"tags":[],"_links":{"self":[{"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/posts\/1361"}],"collection":[{"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/users\/96"}],"replies":[{"embeddable":true,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/comments?post=1361"}],"version-history":[{"count":1,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/posts\/1361\/revisions"}],"predecessor-version":[{"id":1362,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/posts\/1361\/revisions\/1362"}],"wp:attachment":[{"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/media?parent=1361"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/categories?post=1361"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.med.miyazaki-u.ac.jp\/home\/pathophysiology\/wp-json\/wp\/v2\/tags?post=1361"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}