{"id":33554,"date":"2022-07-11T16:33:29","date_gmt":"2022-07-11T07:33:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33554"},"modified":"2026-07-13T18:43:03","modified_gmt":"2026-07-13T09:43:03","slug":"alport-syndrome-x-linked","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alport-syndrome-x-linked\/","title":{"rendered":"\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u5065\u8a3a\u3067\u300c\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u308a\u3001\u3054\u89aa\u621a\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u3054\u81ea\u8eab\u3084\u304a\u5b50\u3055\u307e\u306e\u3053\u3068\u304c\u5fc3\u914d\u306b\u306a\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u306e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\u3092\u3064\u304f\u308b\u30b3\u30e9\u30fc\u30b2\u30f3IV\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u6307\u5b9a\u96e3\u75c5218\u3067\u3001\u56fd\u5185\u306e\u60a3\u8005\u6570\u306f\u7d041,200\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u7d049\u5272\u306fCOL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bX\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08XLAS\uff09\u3067\u3001\u7121\u75c7\u5019\u6027\u306e\u8840\u5c3f\u304b\u3089\u59cb\u307e\u308a\u3001\u9032\u884c\u3059\u308b\u3068\u672b\u671f\u814e\u4e0d\u5168\u306b\u3044\u305f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u7d4c\u904e\u306f\u907a\u4f1d\u5f62\u5f0f\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u4e00\u5f8b\u306b\u60b2\u89b3\u3059\u308b\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u30683\u3064\u306e\u907a\u4f1d\u5f62\u5f0f\u3001\u5e74\u4ee3\u5225\u306b\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3001\u305d\u3057\u3066\u6c17\u306b\u306a\u308bNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3092\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5b66\u8853\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002\u5f53\u4e8b\u8005\u30fb\u3054\u5bb6\u65cf\u306e\u4f1a\u306e\u767a\u4fe1\u3082\u4ea4\u3048\u306a\u304c\u3089\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u30683\u3064\u306e\u907a\u4f1d\u5f62\u5f0f\u306e\u9055\u3044<\/li>\n<li>\u5e74\u4ee3\u5225\u306b\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6\u306e\u30b5\u30a4\u30f3\u3068\u898b\u3064\u304b\u308a\u65b9<\/li>\n<li>\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u305f\u3081\u306e\u691c\u67fb\u306e\u6d41\u308c<\/li>\n<li>\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3068\u814e\u79fb\u690d\u5f8c\u306e\u898b\u901a\u3057<\/li>\n<li>\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u907a\u4f1d\u306e\u8003\u3048\u65b9\u3068NIPT\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n<li>\u60a3\u8005\u4f1a\u306a\u3069\u5f53\u4e8b\u8005\u30fb\u3054\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u65b9\u6cd5<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u306f\uff5c\u30b3\u30e9\u30fc\u30b2\u30f3IV\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u306e\u6307\u5b9a\u96e3\u75c5<\/strong><\/h2>\n\n\n\n<p><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u306e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\uff08GBM\uff09\u3084\u5185\u8033\u3001\u773c\u306e\u30b3\u30e9\u30fc\u30b2\u30f3IV\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u3064\u304f\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u9032\u884c\u6027\u306e\u907a\u4f1d\u6027\u814e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u539a\u751f\u52b4\u50cd\u7701\u306e\u6307\u5b9a\u96e3\u75c5218\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4349\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306b\u3088\u308b\u3068\u56fd\u5185\u306e\u60a3\u8005\u6570\u306f\u7d041,200\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u306e\u306fCOL4A5\u30fbCOL4A3\u30fbCOL4A4\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u3067\u3001\u3053\u306e\u3046\u3061<strong>\u7d049\u5272\u306fCOL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bX\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08XLAS\uff09<\/strong>\u3067\u3059\u3002<a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_02_013\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306f\u6709\u75c5\u7387\u3092\u7d045,000\u4eba\u306b1\u4eba\u3068\u3057\u3066\u304a\u308a\u3001\u907a\u4f1d\u6027\u814e\u75be\u60a3\u306e\u306a\u304b\u3067\u3082\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u75be\u60a3\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306f\u8840\u5c3f\u30fb\u86cb\u767d\u5c3f\u3068\u3044\u3063\u305f\u814e\u75c7\u72b6\u306b\u52a0\u3048\u3001\u96e3\u8074\u3084\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>3\u3064\u306e\u907a\u4f1d\u5f62\u5f0f\uff5cX\u9023\u9396\u6027\u30fb\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u30fb\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u9055\u3044<\/strong><\/h2>\n\n\n\n<p><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306b\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u4f1d\u308f\u308a\u65b9\u304c\u7570\u306a\u308b3\u3064\u306e\u578b\u304c\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u578b\u306e\u898b\u304d\u308f\u3081\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e0b\u8a18\u306e\u8868\u306b\u4e3b\u306a\u9055\u3044\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u578b<\/th><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u907a\u4f1d\u5f62\u5f0f<\/th><th>\u60a3\u8005\u306b\u5360\u3081\u308b\u5272\u5408<\/th><th>\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u50be\u5411<\/th><\/tr><\/thead><tbody><tr><td>X\u9023\u9396\u6027\uff08XLAS\uff09<\/td><td>COL4A5<\/td><td>X\u9023\u9396<\/td><td>\u7d049\u5272<\/td><td>\u7537\u6027\u3067\u65e9\u671f\u30fb\u91cd\u75c7\u5316<\/td><\/tr><tr><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08AR\u578b\uff09<\/td><td>COL4A3\u30fbCOL4A4<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><td>\u6bd4\u8f03\u7684\u307e\u308c<\/td><td>\u7537\u5973\u3068\u3082\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044<\/td><\/tr><tr><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08AD\u578b\uff09<\/td><td>COL4A3\u30fbCOL4A4<\/td><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027<\/td><td>\u6bd4\u8f03\u7684\u307e\u308c<\/td><td>\u8840\u5c3f\u4e2d\u5fc3\u3067\u8efd\u75c7\u304c\u591a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>X\u9023\u9396\u6027\u306f\u3001COL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u7247\u65b9\u306eX\u67d3\u8272\u4f53\u306b\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u75c7\u72b6\u304c\u5f37\u304f\u51fa\u3084\u3059\u304f\u3001\u5973\u6027\u306f\u3082\u3046\u4e00\u65b9\u306e\u6b63\u5e38\u306aX\u67d3\u8272\u4f53\u304c\u3042\u308b\u305f\u3081\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u304b\u305f\u3088\u308a\u6b21\u7b2c\u3067\u75c7\u72b6\u306e\u91cd\u3055\u306b\u5e45\u304c\u51fa\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306f\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5834\u5408\u306b\u767a\u75c7\u3057\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306f\u7247\u65b9\u306e\u5909\u7570\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u304c\u8840\u5c3f\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u306f\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u3054\u5bb6\u65cf\u304b\u3089\u300c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7b54\u3048\u306f\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001\u307e\u305a\u3054\u81ea\u8eab\u3084\u304a\u5b50\u3055\u307e\u304c\u3069\u306e\u578b\u306b\u5f53\u3066\u306f\u307e\u308b\u306e\u304b\u3092\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3068\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5e74\u4ee3\u5225\u306b\u3042\u3089\u308f\u308c\u308b\u75c7\u72b6\u306e\u30b5\u30a4\u30f3<\/strong><\/h2>\n\n\n\n<p><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u814e\u30fb\u8074\u899a\u30fb\u773c\u306e3\u7cfb\u7d71\u306b\u308f\u305f\u308a\u3001\u5e74\u4ee3\u3092\u8ffd\u3063\u3066\u6bb5\u968e\u7684\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u5e7c\u5c11\u671f\u306f\u81ea\u899a\u75c7\u72b6\u306b\u4e4f\u3057\u304f\u3001\u5b66\u6821\u691c\u5c3f\u304c\u304d\u3063\u304b\u3051\u3067\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>10\u6b73\u4ee5\u4e0b\u306e\u5c0f\u5150\u671f\u306f\u3001\u7121\u75c7\u5019\u6027\u306e\u9855\u5fae\u93e1\u7684\u8840\u5c3f\u3060\u3051\u304c\u552f\u4e00\u306e\u30b5\u30a4\u30f3\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u306e\u6bb5\u968e\u3067\u306e\u8a3a\u65ad\u306f\u5bb9\u6613\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u601d\u6625\u671f\u306b\u8fd1\u3065\u304f\u306b\u3064\u308c\u3066\u86cb\u767d\u5c3f\u304c\u52a0\u308f\u308a\u3001\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\u3092\u5448\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8074\u899a\u969c\u5bb3\u306f\u601d\u6625\u671f\u3054\u308d\u304b\u3089\u9ad8\u97f3\u57df\u3092\u4e2d\u5fc3\u306b\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9032\u884c\u3059\u308b\u3068\u4f1a\u8a71\u97f3\u57df\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u3002\u773c\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u6c34\u6676\u4f53\u306e\u83f2\u8584\u5316\u3068\u81a8\u9686\u3092\u4f34\u3046\u524d\u90e8\u5186\u9310\u6c34\u6676\u4f53\u304c\u672c\u75c7\u5019\u7fa4\u306b\u7279\u7570\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6210\u4eba\u671f\u4ee5\u964d\u306f\u3001\u814e\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u6700\u7d42\u7684\u306b\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff09\u3078\u3068\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u9032\u884c\u306e\u30b9\u30d4\u30fc\u30c9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u540c\u3058\u578b\u3067\u3042\u3063\u3066\u3082\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u307e\u3067\u306e\u6d41\u308c\uff5c\u5c3f\u691c\u67fb\u304b\u3089\u907a\u4f1d\u5b50\u89e3\u6790\u307e\u3067<\/strong><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u5c3f\u691c\u67fb\u30fb\u814e\u751f\u691c\u30fb\u8074\u529b\u691c\u67fb\u30fb\u773c\u79d1\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u5358\u72ec\u306e\u691c\u67fb\u3060\u3051\u3067\u8a3a\u65ad\u304c\u3064\u304f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u5c3f\u691c\u67fb\u3067\u307b\u307c\u5168\u4f8b\u306b\u9855\u5fae\u93e1\u7684\u8840\u5c3f\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u814e\u751f\u691c\u3067\u306f\u3001\u96fb\u5b50\u9855\u5fae\u93e1\u306b\u3088\u308b\u8d85\u5fae\u7d30\u69cb\u9020\u89e3\u6790\u3067\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\u306e\u83f2\u8584\u5316\u3084\u5c64\u677f\u69cb\u9020\u306e\u4e71\u308c\u3001\u3044\u308f\u3086\u308b\u300c\u7db2\u76ee\u72b6\u5909\u5316\u300d\u304c\u89b3\u5bdf\u3055\u308c\u3001\u514d\u75ab\u7d44\u7e54\u5316\u5b66\u691c\u67fb\u3067\u306f\u30b3\u30e9\u30fc\u30b2\u30f3IV\u03b15\u9396\u306e\u67d3\u8272\u6b20\u640d\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u8074\u529b\u691c\u67fb\u3067\u306f\u9ad8\u97f3\u57df\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u3001\u773c\u79d1\u691c\u67fb\u3067\u306f\u524d\u90e8\u5186\u9310\u6c34\u6676\u4f53\u3084\u7db2\u819c\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u7d42\u7684\u306a\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_02_013\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306b\u3088\u308b\u3068\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u73fe\u5728\u3067\u306f\u307b\u307c100%\u306e\u60a3\u8005\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u540c\u5b9a\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u30bf\u30fc\u30b2\u30c3\u30c8\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u304c\u7528\u3044\u3089\u308c\u3001\u578b\u306e\u5224\u5b9a\u3084\u5bb6\u65cf\u5185\u3067\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u6cd5\u3068\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\uff5c\u6839\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong><\/h2>\n\n\n\n<p><strong>\u73fe\u6642\u70b9\u3067\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u814e\u4fdd\u8b77\u7642\u6cd5\u306b\u3088\u308b\u9032\u884c\u306e\u6291\u5236\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3067\u3059\u3002<\/strong>\u65e9\u671f\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308b\u307b\u3069\u3001\u814e\u6a5f\u80fd\u3092\u9577\u304f\u4fdd\u3066\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u5fc3\u3068\u306a\u308b\u306e\u306f\u3001\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u5909\u63db\u9175\u7d20\uff08ACE\uff09\u963b\u5bb3\u85ac\u3084\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u53d7\u5bb9\u4f53\u62ee\u6297\u85ac\uff08ARB\uff09\u3068\u3044\u3063\u305f\u30ec\u30cb\u30f3-\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u7cfb\u963b\u5bb3\u85ac\u3067\u3059\u3002\u86cb\u767d\u5c3f\u3092\u6e1b\u3089\u3057\u3001\u814e\u4e0d\u5168\u3078\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u5e74\u3067\u306fSGLT2\u963b\u5bb3\u85ac\u304c\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u3055\u3089\u306b\u6291\u5236\u3059\u308b\u53ef\u80fd\u6027\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u9078\u629e\u80a2\u304c\u5e83\u304c\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u8074\u899a\u969c\u5bb3\u306b\u306f\u88dc\u8074\u5668\u3067\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u30fb\u814e\u6a5f\u80fd\u691c\u67fb\u30fb\u8840\u5727\u7ba1\u7406\u3092\u7d9a\u3051\u308b\u3053\u3068\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u3063\u305f\u5834\u5408\u306f\u3001\u814e\u79fb\u690d\u304c\u6700\u3082\u6709\u52b9\u306a\u6cbb\u7642\u9078\u629e\u80a2\u3067\u3059\u3002<a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_02_013\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u306f\u3001\u82e5\u5e74\u60a3\u8005\u306b\u304a\u3051\u308b\u814e\u79fb\u690d\u306e\u6210\u7e3e\u3092\u300c\u6bd4\u8f03\u7684\u826f\u597d\u300d\u3068\u8a55\u4fa1\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u79fb\u690d\u5f8c\u306b\u6297GBM\u75c5\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u79fb\u690d\u5f8c\u3082\u614e\u91cd\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u7570\u5e38\u3092\u6a19\u7684\u3068\u3057\u305f\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7642\u6cd5\u306a\u3069\u3001\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u958b\u767a\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">\u516c\u5f0fLINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c\u306e\u898b\u901a\u3057\uff5c\u578b\u3068\u6027\u5225\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059<\/strong><\/h2>\n\n\n\n<p><strong>\u4e88\u5f8c\u306f\u907a\u4f1d\u5f62\u5f0f\u30fb\u907a\u4f1d\u5b50\u578b\u30fb\u6cbb\u7642\u958b\u59cb\u306e\u6642\u671f\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u4e00\u3064\u306e\u6570\u5b57\u3060\u3051\u3067\u8a9e\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4e0b\u8868\u306b\u4ee3\u8868\u7684\u306a\u5831\u544a\u5024\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u578b\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff09\u306b\u3044\u305f\u308b\u76ee\u5b89<\/th><\/tr><\/thead><tbody><tr><td>XLAS\u7537\u6027<\/td><td>\u7d0490%\u304c40\u6b73\u307e\u3067\u306bESKD\u3078\u9032\u884c<\/td><\/tr><tr><td>XLAS\u5973\u6027<\/td><td>40\u6b73\u307e\u3067\u306b\u7d0412%\u300160\u6b73\u307e\u3067\u306b15\u301c30%\u7a0b\u5ea6<\/td><\/tr><tr><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08AR\u578b\uff09<\/td><td>XLAS\u7537\u6027\u3068\u540c\u69d8\u306b\u82e5\u5e74\u6210\u4eba\u671f\u307e\u3067\u306b\u9032\u884c\u3057\u3084\u3059\u3044<\/td><\/tr><tr><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08AD\u578b\uff09<\/td><td>\u591a\u304f\u306fESKD\u306b\u81f3\u3089\u305a\u8840\u5c3f\u306b\u3068\u3069\u307e\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u306e\u8a3a\u7642\u306e\u306a\u304b\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u65e9\u671f\u306bRAS\u963b\u5bb3\u85ac\u306b\u3088\u308b\u814e\u4fdd\u8b77\u7642\u6cd5\u3092\u59cb\u3081\u3001\u5b9a\u671f\u7684\u306a\u901a\u9662\u3067\u814e\u6a5f\u80fd\u3092\u30d5\u30a9\u30ed\u30fc\u3057\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u9032\u884c\u306e\u30b9\u30d4\u30fc\u30c9\u306b\u5dee\u304c\u51fa\u3066\u304f\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u6570\u5024\u306f\u3042\u304f\u307e\u3067\u5831\u544a\u4f8b\u306e\u76ee\u5b89\u3067\u3042\u308a\u3001\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u7d4c\u904e\u3092\u898b\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u907a\u4f1d\u3068NIPT\u30fb\u51fa\u751f\u524d\u8a3a\u65ad\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/strong><\/h2>\n\n\n\n<p><strong>NIPT\u306f21\u30c8\u30ea\u30bd\u30df\u30fc\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3001\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u306e\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u76f4\u63a5\u8abf\u3079\u308b\u691c\u67fb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3053\u306e\u70b9\u3092\u8aa4\u89e3\u3055\u308c\u3066\u3044\u308b\u65b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c\u8840\u7e01\u8005\u306b\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u65b9\u304c\u3044\u308b\u304c\u3001NIPT\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u691c\u67fb\u9805\u76ee\u306bCOL4A5\u306a\u3069\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/what-can-and-cannot-be-determined-in-prenatal-diagnosis\/\">\u51fa\u751f\u524d\u8a3a\u65ad\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/a>\u3067\u6574\u7406\u3057\u3066\u3044\u308b\u3068\u304a\u308a\u3001NIPT\u304c\u5bfe\u8c61\u3068\u3059\u308b\u306e\u306f\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u304d\u306a\u69cb\u9020\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001X\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gender-judgment-nipt\/\">NIPT\u3067\u308f\u304b\u308b\u80ce\u5150\u306e\u6027\u5225\u60c5\u5831<\/a>\u304c\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u898b\u901a\u3057\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u53c2\u8003\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6bcd\u89aa\u304cCOL4A5\u5909\u7570\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u7537\u5150\u306f\u767a\u75c7\u30fb\u91cd\u75c7\u5316\u3057\u3084\u3059\u304f\u3001\u5973\u5150\u306f\u4fdd\u56e0\u8005\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3067\u3059\u3002\u305f\u3060\u3057<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u304c\u308f\u304b\u3063\u3066\u3082\u5909\u7570\u306e\u6709\u7121\u305d\u306e\u3082\u306e\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5bb6\u7cfb\u5185\u3067\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u304c\u3059\u3067\u306b\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u3067\u306e\u907a\u4f1d\u5b50\u89e3\u6790<\/a>\u3001\u4f53\u5916\u53d7\u7cbe\u3092\u4f34\u3046\u7740\u5e8a\u524d\u8a3a\u65ad\uff08PGT\uff09\u307e\u3067\u9078\u629e\u80a2\u306b\u542b\u3081\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/heredity\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a>\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u60a3\u8005\u4f1a\u30fb\u5f53\u4e8b\u8005\u306e\u58f0\uff5c\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u305f\u3081\u306b<\/strong><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u8a3a\u65ad\u76f4\u5f8c\u306f\u8eab\u8fd1\u306b\u76f8\u8ac7\u3067\u304d\u308b\u76f8\u624b\u304c\u898b\u3064\u304b\u3089\u305a\u5b64\u72ec\u3092\u611f\u3058\u3084\u3059\u3044\u3082\u306e\u3067\u3059\u304c\u3001\u5f53\u4e8b\u8005\u30fb\u3054\u5bb6\u65cf\u306b\u3088\u308b\u60a3\u8005\u4f1a\u304c\u3044\u304f\u3064\u3082\u6d3b\u52d5\u3057\u3066\u3044\u307e\u3059\u3002<\/strong>SNS\u4e0a\u3067\u3082\u5b9f\u4f53\u9a13\u306b\u3082\u3068\u3065\u304f\u767a\u4fe1\u304c\u7d9a\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3042\u308b\u304a\u5b50\u3055\u3093\u306e\u304a\u6bcd\u3055\u307e\u306f\u3001\u300c\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u3044\u3046\u540c\u3058\u75c5\u3092\u6301\u3064\u7537\u306e\u5b50\u304c\u3053\u3093\u306a\u306b\u3082\u305f\u304f\u307e\u3057\u304f\u3001\u524d\u5411\u304d\u306b\u751f\u304d\u3066\u3044\u308b\u59ff\u3092\u898b\u305b\u3066\u304f\u308c\u308b\u3053\u3068\u304c\u3001\u4e00\u4eba\u306e\u6bcd\u89aa\u3068\u3057\u3066\u3069\u308c\u307b\u3069\u5fc3\u5f37\u304f\u3001\u5e0c\u671b\u306b\u306a\u308b\u304b\u5206\u304b\u308a\u307e\u305b\u3093\u300d\u3068\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/x.com\/AlportJapan\/status\/2074252314677039594\" target=\"_blank\" rel=\"noopener\">@AlportJapan<\/a>\u6c0f\u3082\u540c\u69d8\u306b\u3001\u540c\u3058\u75c5\u6c17\u3092\u6301\u3064\u5b50\u3069\u3082\u540c\u58eb\u306e\u3064\u306a\u304c\u308a\u304c\u5bb6\u65cf\u306e\u652f\u3048\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u4f1d\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f53\u4e8b\u8005\u3054\u672c\u4eba\u304b\u3089\u306f\u3001\u300c\u300e\u51fa\u6765\u306a\u3044\u300f\u3068\u9078\u629e\u80a2\u3092\u6d88\u3059\u306e\u3067\u3082\u306a\u304f\u300e\u4f55\u3067\u3082\u6311\u6226\u3055\u305b\u308b\u300f\u306e\u304c\u5e38\u306b\u6b63\u89e3\u3067\u3082\u306a\u3044\u3002\u4eca\u306e\u72b6\u6cc1\u3067\u3069\u3053\u307e\u3067\u5f62\u3092\u5909\u3048\u3066\u697d\u3057\u3081\u308b\u304b\u3092\u5b50\u3069\u3082\u3068\u4e00\u7dd2\u306b\u8003\u3048\u3066\u9078\u629e\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u5fc3\u3092\u5b88\u308a\u5171\u306b\u524d\u3092\u5411\u304f\u30d2\u30f3\u30c8\u306b\u306a\u308b\u300d\u3068\u3044\u3046\u8a00\u8449\u3082\u5c4a\u3044\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/x.com\/Alport_202206\/status\/2075750825310539946\" target=\"_blank\" rel=\"noopener\">@Alport_202206<\/a>\u6c0f\u306e\u3053\u3046\u3057\u305f\u767a\u4fe1\u306f\u3001\u900f\u6790\u3084\u814e\u79fb\u690d\u3068\u5411\u304d\u5408\u3044\u306a\u304c\u3089\u751f\u6d3b\u3059\u308b\u5f53\u4e8b\u8005\u306e\u5b9f\u611f\u304c\u3053\u3082\u3063\u305f\u8a00\u8449\u3068\u3057\u3066\u3001\u591a\u304f\u306e\u5bb6\u65cf\u306e\u652f\u3048\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u5f8c\u306f\u3001\u3053\u3046\u3057\u305f\u60a3\u8005\u4f1a\u3084SNS\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3092\u901a\u3058\u3066\u540c\u3058\u7acb\u5834\u306e\u65b9\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u3001\u9577\u304f\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u75c5\u6c17\u3068\u306e\u5411\u304d\u5408\u3044\u65b9\u306e\u4e00\u3064\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--2\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<p>\u8840\u7e01\u8005\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u3054\u81ea\u8eab\u306e\u598a\u5a20\u30fb\u51fa\u7523\u306b\u3064\u3044\u3066\u691c\u8a0e\u3055\u308c\u308b\u5834\u5408\u3001\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u3063\u3066\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3084NIPT\u306e\u4f4d\u7f6e\u3065\u3051\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u304a\u8a66\u3057\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u814e\u81d3\u306e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\u3092\u3064\u304f\u308b\u30b3\u30e9\u30fc\u30b2\u30f3IV\u306e\u907a\u4f1d\u5b50\uff08COL4A5\u30fbCOL4A3\u30fbCOL4A4\uff09\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u6307\u5b9a\u96e3\u75c5218\u3067\u3059\u3002\u8840\u5c3f\u30fb\u86cb\u767d\u5c3f\u306a\u3069\u306e\u814e\u75c7\u72b6\u306b\u52a0\u3048\u3001\u96e3\u8074\u3084\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u56fd\u5185\u306e\u60a3\u8005\u6570\u306f\u7d041,200\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001X\u9023\u9396\u6027\u30fb\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u30fb\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e3\u3064\u306e\u578b\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u3054\u81ea\u8eab\u3084\u304a\u5b50\u3055\u307e\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u3082\u3068\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u691c\u67fb\u9805\u76ee\u306bCOL4A5\u306a\u3069\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u5909\u7570\u306f\u542b\u307e\u308c\u3066\u304a\u3089\u305a\u3001\u76f4\u63a5\u5224\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002NIPT\u3067\u308f\u304b\u308b\u80ce\u5150\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u60c5\u5831\u306f\u3001X\u9023\u9396\u6027\u306e\u5834\u5408\u306e\u898b\u901a\u3057\u3092\u8003\u3048\u308b\u6750\u6599\u306b\u306f\u306a\u308a\u307e\u3059\u304c\u3001\u5909\u7570\u306e\u6709\u7121\u305d\u306e\u3082\u306e\u306e\u78ba\u5b9a\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002\u5bb6\u7cfb\u5185\u3067\u5909\u7570\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u3067\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u5c3f\u691c\u67fb\u30fb\u814e\u751f\u691c\u30fb\u8074\u529b\u691c\u67fb\u30fb\u773c\u79d1\u691c\u67fb\u306b\u52a0\u3048\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u8fd1\u5e74\u306e\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u73fe\u5728\u3067\u306f\u307b\u307c100%\u306e\u60a3\u8005\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001ACE\u963b\u5bb3\u85ac\u3084ARB\u306b\u3088\u308b\u814e\u4fdd\u8b77\u7642\u6cd5\u3067\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u672b\u671f\u814e\u4e0d\u5168\u306b\u3044\u305f\u3063\u305f\u5834\u5408\u306f\u814e\u79fb\u690d\u304c\u6709\u52b9\u306a\u9078\u629e\u80a2\u3067\u3001\u82e5\u5e74\u60a3\u8005\u3067\u306e\u6210\u7e3e\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5973\u6027\u3067\u3082\u91cd\u75c7\u5316\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n\n<p>\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u7537\u6027\u3088\u308a\u8efd\u75c7\u3067\u7d4c\u904e\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u304b\u305f\u3088\u308a\u6b21\u7b2c\u3067\u306f\u91cd\u75c7\u5316\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u300240\u6b73\u307e\u3067\u306b\u672b\u671f\u814e\u4e0d\u5168\u306b\u3044\u305f\u308b\u5272\u5408\u306f\u7d0412%\u300160\u6b73\u307e\u3067\u306715\u301c30%\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6cb9\u65ad\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5b66\u8853\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u4f1a\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u5831\u544a\u4f8b\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>COL4A5\uff5cAlport Syndrome, X-Linked<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4349\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5218\uff09\u300d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_02_013\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u6162\u6027\u7cf8\u7403\u4f53\u814e\u708e\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306b\u3088\u308b\u3082\u306e\u306b\u9650\u308b\u3002\uff09\u300d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.twmu.ac.jp\/NEP\/idensei-jinshikkan\/alport.html\" target=\"_blank\" rel=\"noopener\">\u6771\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u814e\u81d3\u5185\u79d1\u300c\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u300d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fmed.2022.865034\">Savige, J., Huang, M., Croos Dabrera, M. S., Shukla, K., &amp; Gibson, J. (2022). Genotype-phenotype correlations for pathogenic col4a3\u2013col4a5 variants in x-linked, autosomal recessive, and autosomal dominant alport syndrome. <em>Frontiers in Medicine<\/em>, <em>9<\/em>, 865034. https:\/\/doi.org\/10.3389\/fmed.2022.865034<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ekir.2022.08.021\">Gibson, J. T., De Gooyer, M., Huang, M., &amp; Savige, J. (2022). A systematic review of pathogenic col4a5 variants and proteinuria in women and girls with x-linked alport syndrome. <em>Kidney International Reports<\/em>, <em>7<\/em>(11), 2454\u20132461. https:\/\/doi.org\/10.1016\/j.ekir.2022.08.021<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fmed.2022.841391\">Yamamura, T., Horinouchi, T., Aoto, Y., Lennon, R., &amp; Nozu, K. (2022). The contribution of col4a5 splicing variants to the pathogenesis of x-linked alport syndrome. <em>Frontiers in Medicine<\/em>, <em>9<\/em>, 841391. https:\/\/doi.org\/10.3389\/fmed.2022.841391<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.kint.2020.10.040\">\u017burowska, A. M. et al. (2021). Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central\/East Europe and causes kidney failure in midlife. <em>Kidney International<\/em>, <em>99<\/em>(6), 1451\u20131458. https:\/\/doi.org\/10.1016\/j.kint.2020.10.040<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2147\/IJNRD.S459363\">Li, Y. et al. (2024). Aberrant Splicing of <em>COL4A5<\/em> Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series. <em>International Journal of Nephrology and Renovascular Disease<\/em>, <em>17<\/em>, 167\u2013174. https:\/\/doi.org\/10.2147\/IJNRD.S459363<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2022.847777\">Wang, S., Shao, Y., Wang, Y., Lu, J., &amp; Shao, L. (2022). Identification of four novel col4a5 variants and detection of splicing abnormalities in three chinese x-linked alport syndrome families. <em>Frontiers in Genetics<\/em>, <em>13<\/em>, 847777. https:\/\/doi.org\/10.3389\/fgene.2022.847777<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-022-06525-9\">Gibson, J.T., Huang, M., Shenelli Croos Dabrera, M. <em>et al.<\/em> Genotype\u2013phenotype correlations for <em>COL4A3<\/em>\u2013<em>COL4A5<\/em> variants resulting in Gly substitutions in Alport syndrome. <em>Sci Rep<\/em> <strong>12<\/strong>, 2722 (2022). https:\/\/doi.org\/10.1038\/s41598-022-06525-9<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4, X\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4, XLAS, COL4A5, COL4A3, COL4A4, \u907a\u4f1d\u6027\u814e\u75be\u60a3, \u8840\u5c3f, \u86cb\u767d\u5c3f, \u672b\u671f\u814e\u4e0d\u5168, \u611f\u97f3\u6027\u96e3\u8074, \u773c\u7570\u5e38, \u814e\u79fb\u690d, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a><\/sup><\/sup><\/p>\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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