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class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>TNFRSF11A<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u5927\u7406\u77f3\u9aa8\u75c5\u306f<strong>\u7834\u9aa8\u7d30\u80de\u306e\u6a5f\u80fd\u307e\u305f\u306f\u5206\u5316\u306e\u7570\u5e38\u306b\u3088\u308b\u9aa8\u786c\u5316\u6027\u75be\u60a3\u7fa4<\/strong>\u3067\u3001\u907a\u4f1d\u5f62\u5f0f\u30fb\u91cd\u75c7\u5ea6\u306b\u3088\u308a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u60aa\u6027\u4e73\u5150\u578b\u3001ARO\uff09\u3001\u4e2d\u9593\u578b\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08Albers-Sch\u00f6nberg\u75c5\uff09\u306b\u5206\u3051\u3089\u308c\u308b\u3002ARO\u306f\u51fa\u751f25\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u307e\u308c\u3060\u304c\u3001<strong>\u7121\u6cbb\u7642\u3067\u306f\u591a\u304f\u304c10\u6b73\u307e\u3067\u306b\u6b7b\u4ea1\u3059\u308b<\/strong>\u305f\u3081\u65e9\u671f\u8a3a\u65ad\u304c\u6c42\u3081\u3089\u308c\u308b\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7d0450%\u306f<em>TCIRG1<\/em>\uff08V-ATPase a3\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09\u3001\u6b21\u3044\u3067<em>CLCN7<\/em>\u304c\u7d0415%\u3092\u5360\u3081\u308b\u3002<\/p>\n\n\n<p><strong>TNFRSF11A<\/strong>\uff08RANK\u300118q21.33\uff09\u306f\u7834\u9aa8\u7d30\u80de\u524d\u99c6\u7d30\u80de\uff08\u5358\u7403\u7cfb\uff09\u4e0a\u306eTNF\u53d7\u5bb9\u4f53\u30b9\u30fc\u30d1\u30fc\u30d5\u30a1\u30df\u30ea\u30fc\u5206\u5b50\u3067\u3001RANKL\u523a\u6fc0\u306b\u3088\u308aNF-\u03baB\u30fbNFATc1\u7d4c\u8def\u3092\u4ecb\u3057\u3066\u7834\u9aa8\u7d30\u80de\u5206\u5316\u3092\u8a98\u5c0e\u3059\u308b\u3002<strong>\u672c\u578b\u3082RANKL\u578b\u3068\u540c\u3058\u7834\u9aa8\u7d30\u80de\u6e1b\u5c11\u578b\u3060\u304c\u3001\u6b20\u9665\u304c\u9020\u8840\u7cfb\u7d30\u80de\u306b\u5185\u5728\u3059\u308b\u305f\u3081\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u6839\u6cbb\u7684\u6cbb\u7642\u3068\u306a\u308b<\/strong>\u2014\u2014<strong>RANKL\u578b\uff08\u79fb\u690d\u7121\u52b9\uff09\u3068\u306e\u9451\u5225\u306f\u6cbb\u7642\u65b9\u91dd\u306b\u76f4\u7d50\u3059\u308b<\/strong>\u3002\u306a\u304a\u672c\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306f\u5bb6\u65cf\u6027\u62e1\u5f35\u6027\u9aa8\u6eb6\u89e3\u75c7\u3084\u82e5\u5e74\u6027Paget\u75c5\u69d8\u75be\u60a3\u3092\u751f\u3058\u3001\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u306f\u9006\u306e\u8868\u73fe\u578b\u3068\u306a\u308b\u3002<\/p>\n\n\n<p>\u6cbb\u7642\u6226\u7565\u306e\u89b3\u70b9\u304b\u3089\u306f\u3001<strong>\u2460\u7834\u9aa8\u7d30\u80de\u306f\u5b58\u5728\u3059\u308b\u304c\u6a5f\u80fd\u3057\u306a\u3044\u578b\uff08TCIRG1\u3001CLCN7\u3001OSTM1\u3001SNX10\u3001PLEKHM1\u3001CA2\uff09\u3068\u3001\u2461\u7834\u9aa8\u7d30\u80de\u305d\u306e\u3082\u306e\u304c\u5f62\u6210\u3055\u308c\u306a\u3044\u578b\uff08TNFSF11\u3001TNFRSF11A\uff09<\/strong>\u306b\u5206\u3051\u3066\u7406\u89e3\u3059\u308b\u306e\u304c\u5b9f\u969b\u7684\u3067\u3042\u308b\u3002\u3055\u3089\u306b<strong>\u9020\u8840\u7cfb\u5185\u5728\u6027\u304b\u9593\u8cea\u7cfb\u304b\u3068\u3044\u3046\u8ef8<\/strong>\u304c\u79fb\u690d\u9069\u5fdc\u3092\u6c7a\u3081\u3001<strong>TNFSF11\u578b\u306e\u307f\u304c\u9593\u8cea\u7cfb\uff08\u79fb\u690d\u7121\u52b9\uff09<\/strong>\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d4\u30af\u30ce\u30c7\u30a3\u30b9\u30aa\u30b9\u30c8\u30fc\u30b7\u30b9\uff08<em>CTSK<\/em>\uff09\u3001\u5927\u7406\u77f3\u9aa8\u75c5\u69d8\u306e\u9aa8\u786c\u5316\u3092\u793a\u3059\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\u3001\u4e2d\u6bd2\u6027\u30fb\u4ee3\u8b1d\u6027\u306e\u9aa8\u786c\u5316\uff08\u30d5\u30c3\u7d20\u75c7\u3001\u925b\u4e2d\u6bd2\uff09\u304c\u6319\u304c\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u5927\u7406\u77f3\u9aa8\u75c5\u306f\u3001\u51fa\u751f25\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u5730\u57df\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u9aa8\u304c\u786c\u3044\u306e\u306b\u6298\u308c\u3084\u3059\u3044\u306e\u306f\u306a\u305c\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u9aa8\u306f\u300c\u3064\u304f\u308b\u300d\u3068\u300c\u58ca\u3059\u300d\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u3067\u3001<strong>\u53e4\u304f\u306a\u3063\u305f\u90e8\u5206\u3092\u65b0\u3057\u304f\u8cea\u306e\u3088\u3044\u9aa8\u306b\u7f6e\u304d\u63db\u3048\u3066\u3044\u307e\u3059<\/strong>\u3002\u58ca\u3059\u306f\u305f\u3089\u304d\u304c\u6b62\u307e\u308b\u3068\u3001\u53e4\u304f\u8cea\u306e\u60aa\u3044\u9aa8\u304c\u305d\u306e\u307e\u307e\u6b8b\u3063\u3066\u539a\u304f\u306a\u308b\u305f\u3081\u3001\u786c\u3044\u306e\u306b\u3082\u308d\u304f\u3001\u6298\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u304c\u898b\u3048\u306b\u304f\u304f\u306a\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u982d\u84cb\u9aa8\u304c\u539a\u304f\u306a\u308b\u3053\u3068\u3067\u8996\u795e\u7d4c\u306e\u901a\u308a\u9053\u304c\u72ed\u304f\u306a\u308a\u3001\u8996\u795e\u7d4c\u304c\u5727\u8feb\u3055\u308c\u307e\u3059\u3002<strong>\u3044\u3063\u305f\u3093\u5931\u308f\u308c\u305f\u8996\u529b\u306f\u56de\u5fa9\u3057\u306b\u304f\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u306e\u8a55\u4fa1\u3068\u3001\u65e9\u3044\u6bb5\u968e\u3067\u306e\u6cbb\u7642\u306e\u5224\u65ad\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. RANKL\u306e\u578b\u3068\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3069\u3061\u3089\u3082\u9aa8\u3092\u6eb6\u304b\u3059\u7d30\u80de\u304c\u3064\u304f\u3089\u308c\u306a\u3044\u75c5\u6c17\u3067\u3059\u304c\u3001\u3053\u306e\u578b\u306f\u8840\u6db2\u3092\u3064\u304f\u308b\u7d30\u80de\u5074\u306e\u554f\u984c\u306e\u305f\u3081\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u6709\u52b9\u3067\u3059\u3002RANKL\u306e\u578b\u3067\u306f\u79fb\u690d\u306f\u52b9\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. <em>Nat Rev Endocrinol<\/em>. 2013;9(9):522-536.<\/li>\n\n\n\n<li>Stark Z, Savarirayan R. Osteopetrosis. <em>Orphanet J Rare Dis<\/em>. 2009;4:5.<\/li>\n\n\n\n<li>Wu CC, Econs MJ, DiMeglio LA, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the Osteopetrosis Working Group. <em>J Clin Endocrinol Metab<\/em>. 2017;102(9):3111-3123.<\/li>\n\n\n\n<li>Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. <em>Am J Hum Genet<\/em>. 2008;83(1):64-76.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136961","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136961","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136961\/revisions"}],"predecessor-version":[{"id":137279,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136961\/revisions\/137279"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136961"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}