{"id":136686,"date":"2026-09-08T12:23:08","date_gmt":"2026-09-08T03:23:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136686"},"modified":"2026-09-08T12:23:08","modified_gmt":"2026-09-08T03:23:08","slug":"osteopetrosis-autosomal-recessive-1-tcirg1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/osteopetrosis-autosomal-recessive-1-tcirg1\/","title":{"rendered":"\u5927\u7406\u77f3\u9aa8\u75c5 \u5e38\u67d3\u8272\u4f53\u6f5c\u60271\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5927\u7406\u77f3\u9aa8\u75c5 \u5e38\u67d3\u8272\u4f53\u6f5c\u60271\u578b\uff08\u60aa\u6027\u5927\u7406\u77f3\u9aa8\u75c5\uff09\u306f\u3001\u53e4\u304f\u306a\u3063\u305f\u9aa8\u3092\u6eb6\u304b\u3057\u3066\u4f5c\u308a\u66ff\u3048\u308b\u7d30\u80de\uff08\u7834\u9aa8\u7d30\u80de\uff09\u304c\u306f\u305f\u3089\u304b\u305a\u3001\u9aa8\u304c\u786c\u304f\u539a\u304f\u306a\u308a\u3059\u304e\u308b\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>TCIRG1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u306f\u786c\u3044\u306e\u306b<strong>\u3082\u308d\u304f\u3066\u6298\u308c\u3084\u3059\u304f<\/strong>\u3001\u307e\u305f\u9aa8\u306e\u306a\u304b\u306e\u7a7a\u9593\u304c\u72ed\u304f\u306a\u308b\u305f\u3081\u3001\u8840\u6db2\u3092\u4f5c\u308b\u5834\u6240\u304c\u5931\u308f\u308c\u3001\u795e\u7d4c\u304c\u5727\u8feb\u3055\u308c\u307e\u3059\u3002<strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306b\u3088\u3063\u3066\u6cbb\u7642\u3067\u304d\u308b\u75c5\u6c17<\/strong>\u3067\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u304c\u304d\u308f\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>TCIRG1<\/strong> 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class=\"wp-block-list\">\n<li><strong>\u6c4e\u8840\u7403\u6e1b\u5c11<\/strong>\uff08\u8ca7\u8840\u3001\u51fa\u8840\u3057\u3084\u3059\u3044\u3001\u611f\u67d3\u3057\u3084\u3059\u3044\uff09\uff1a\u9aa8\u9ac4\u306e\u7a7a\u9593\u304c\u5931\u308f\u308c\u308b\u305f\u3081<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u3084\u813e\u81d3\u304c\u5927\u304d\u304f\u306a\u308b<\/strong>\uff08\u9aa8\u9ac4\u306e\u4ee3\u308f\u308a\u306b\u8840\u6db2\u3092\u4f5c\u308b\u305f\u3081\uff09<\/li>\n\n\n\n<li><strong>\u8996\u795e\u7d4c\u306e\u5727\u8feb\u306b\u3088\u308b\u8996\u529b\u969c\u5bb3\u30fb\u5931\u660e<\/strong>\uff08\u65e9\u671f\u304b\u3089\u8d77\u3053\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u3001\u96e3\u8074<\/strong><\/li>\n\n\n\n<li>\u9aa8\u304c\u3082\u308d\u304f\u3001\u6298\u308c\u3084\u3059\u3044<\/li>\n\n\n\n<li>\u6b6f\u304c\u751f\u3048\u306b\u304f\u3044\u3001\u984e\u306e\u9aa8\u306e\u611f\u67d3\uff08\u9aa8\u9ac4\u708e\uff09<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u6cbb\u7642\u3092\u3057\u306a\u3044\u5834\u5408\u3001\u591a\u304f\u306f10\u6b73\u307e\u3067\u306b\u547d\u306b\u304b\u304b\u308f\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>X\u7dda\u691c\u67fb\u3067\u5168\u8eab\u306e\u9aa8\u304c\u8457\u3057\u304f\u786c\u304f\u767d\u304f\u5199\u308b\uff08\u9aa8\u786c\u5316\uff09\u3053\u3068\u304b\u3089\u8a3a\u65ad\u3057\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u6c4e\u8840\u7403\u6e1b\u5c11\u3092\u78ba\u8a8d\u3057\u3001<strong>TCIRG1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>TCIRG1<\/strong> \u306f\u60aa\u6027\u5927\u7406\u77f3\u9aa8\u75c5\u306e\u539f\u56e0\u306e\u7d0450%\u3092\u5360\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\uff1a\u6b63\u5e38\u306a\u7834\u9aa8\u7d30\u80de\u3092\u4f9b\u7d66\u3059\u308b\u552f\u4e00\u306e\u6839\u6cbb\u7684\u6cbb\u7642\u3067\u3059\u3002<strong>\u3067\u304d\u308b\u3060\u3051\u65e9\u304f\u884c\u3046\u3053\u3068\u304c\u91cd\u8981<\/strong>\u3067\u3001\u8996\u529b\u969c\u5bb3\u304c\u9032\u3080\u524d\u306e\u5b9f\u65bd\u304c\u671b\u307e\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u8f38\u8840\u3001\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u6cbb\u7642<\/li>\n\n\n\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u30fb\u30d3\u30bf\u30df\u30f3D\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u8996\u795e\u7d4c\u306e\u5727\u8feb\u306b\u5bfe\u3059\u308b\u6e1b\u5727\u8853\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u79fb\u690d\u3067\u9aa8\u9ac4\u306e\u75c7\u72b6\u306f\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u3059\u3067\u306b\u751f\u3058\u305f\u8996\u795e\u7d4c\u306e\u969c\u5bb3\u306f\u623b\u308a\u307e\u305b\u3093<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>TCIRG1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 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\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>TCIRG1<\/strong> 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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\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\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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u60aa\u6027\uff08\u4e73\u5150\u578b\uff09\u5927\u7406\u77f3\u9aa8\u75c5\u306f <strong>TCIRG1<\/strong>\uff0811q13.2\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u3001\u672c\u75c7\u306e\u7d0450%\u3092\u5360\u3081\u308b\u3002TCIRG1\u306f\u7834\u9aa8\u7d30\u80de\u306e\u6ce2\u72b6\u7e01\u306b\u5c40\u5728\u3059\u308bV\u578bH+-ATPase\u306ea3\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u3001\u9aa8\u5438\u53ce\u7aa9\u3078\u306e\u9178\u5206\u6ccc\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>\u7834\u9aa8\u7d30\u80de\u306f\u5b58\u5728\u3059\u308b\u304c\u6a5f\u80fd\u3057\u306a\u3044\uff08osteoclast-rich\u578b\uff09\u305f\u3081\u3001\u9aa8\u57fa\u8cea\u306e\u5438\u53ce\u304c\u505c\u6b62\u3057\u9aa8\u786c\u5316\u3092\u304d\u305f\u3059\u3002\u9aa8\u9ac4\u8154\u306e\u72ed\u5c0f\u5316\u306b\u3088\u308a\u9ac4\u5916\u9020\u8840\u3068\u6c4e\u8840\u7403\u6e1b\u5c11\u304c\u751f\u3058\u3001\u982d\u84cb\u5b54\u306e\u72ed\u7a84\u304c\u8996\u795e\u7d4c\u840e\u7e2e\u30fb\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u30fb\u96e3\u8074\u3092\u62db\u304f\u3002<\/p>\n\n\n\n<p><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u30c9\u30ca\u30fc\u7531\u6765\u306e\u7834\u9aa8\u7d30\u80de\u3092\u4f9b\u7d66\u3059\u308b\u552f\u4e00\u306e\u6839\u6cbb\u7642\u6cd5<\/strong>\u3067\u3042\u308b\u3002\u751f\u5f8c3\u304b\u6708\u4ee5\u5185\u306e\u79fb\u690d\u3067\u4e88\u5f8c\u304c\u826f\u597d\u3068\u3055\u308c\u3001<strong>\u8996\u795e\u7d4c\u969c\u5bb3\u306f\u4e0d\u53ef\u9006\u3067\u3042\u308b\u305f\u3081\u3001\u8996\u529b\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u3046\u3061\u306e\u79fb\u690d\u304c\u63a8\u5968\u3055\u308c\u308b<\/strong>\u3002<\/p>\n\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u3001CLCN7\u5909\u7570\u306b\u3088\u308b\u4e2d\u9593\u578b\u30fb\u5e38\u67d3\u8272\u4f53\u9855\u6027\u578b\uff08Albers-Sch\u00f6nberg\u75c5\uff09\u3001RANKL\uff08TNFSF11\uff09\u5909\u7570\u306b\u3088\u308b osteoclast-poor \u578b\uff08\u3053\u306e\u578b\u306fHSCT\u304c\u7121\u52b9\uff09\u304c\u3042\u308b\u3002<strong>RANKL\u578b\u3067\u306f\u79fb\u690d\u306e\u9069\u5fdc\u304c\u306a\u3044<\/strong>\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u6cbb\u7642\u65b9\u91dd\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u79fb\u690d\u306f\u3044\u3064\u884c\u3046\u306e\u304c\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3067\u304d\u308b\u3060\u3051\u65e9\u304f<\/strong>\u3067\u3059\u3002\u751f\u5f8c3\u304b\u6708\u4ee5\u5185\u306e\u79fb\u690d\u3067\u4e88\u5f8c\u304c\u826f\u597d\u3068\u3055\u308c\u3001\u8996\u795e\u7d4c\u306e\u969c\u5bb3\u304c\u9032\u3080\u524d\u306e\u5b9f\u65bd\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8996\u529b\u306f\u79fb\u690d\u3067\u623b\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3059\u3067\u306b\u751f\u3058\u305f\u8996\u795e\u7d4c\u306e\u969c\u5bb3\u306f\u623b\u308a\u307e\u305b\u3093\u3002<\/strong>\u3060\u304b\u3089\u3053\u305d\u3001\u8996\u529b\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u3046\u3061\u306e\u79fb\u690d\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\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\uff1f<\/h3>\n\n\n\n<p>A. \u53e4\u3044\u9aa8\u304c\u4f5c\u308a\u66ff\u3048\u3089\u308c\u306a\u3044\u305f\u3081\u3001\u786c\u304f\u3066\u3082\u8cea\u306e\u60aa\u3044\u9aa8\u306b\u306a\u308a\u3001\u304b\u3048\u3063\u3066\u6298\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3059\u3079\u3066\u306e\u5927\u7406\u77f3\u9aa8\u75c5\u3067\u79fb\u690d\u304c\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3044\u3044\u3048\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u306f\u79fb\u690d\u304c\u52b9\u304b\u306a\u3044\u578b\uff08RANKL\u578b\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u6cbb\u7642\u65b9\u91dd\u3092\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Frattini A, Orchard PJ, Sobacchi C, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. <em>Nat Genet<\/em>. 2000;25(3):343-346.<\/li>\n\n\n\n<li>Sobacchi C, Schulz A, Coxon FP, et al. 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>Orchard PJ, Fasth AL, Le Rademacher J, et al. Hematopoietic stem cell transplantation for infantile osteopetrosis. <em>Blood<\/em>. 2015;126(2):270-276.<\/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>OMIM #259700 Osteopetrosis, autosomal recessive 1<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136686","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\/136686","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\/136686\/revisions"}],"predecessor-version":[{"id":137056,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136686\/revisions\/137056"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136686"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}