{"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":"2026-04-28T13:43:19","modified_gmt":"2026-04-28T04:43:19","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<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u907a\u4f1d\u7684\u306a\u814e\u75be\u60a3\u306e\u4e00\u7a2e\u3067\u3001\u8840\u5c3f\u3084\u86cb\u767d\u5c3f\u3001\u9032\u884c\u6027\u306e\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u7279\u306bX\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08XLAS\uff09\u306f\u3001COL4A5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u8074\u899a\u969c\u5bb3\u3084\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/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\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u57fa\u5e95\u819c\u306e\u30b3\u30e9\u30fc\u30b2\u30f3IV\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u4e3b\u306bCOL4A5\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308bX\u9023\u9396\u6027\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08XLAS\uff09\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u9032\u884c\u6027\u306e\u814e\u75be\u60a3\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u773c\u306e\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u307e\u305f\u3001COL4A3\u307e\u305f\u306fCOL4A4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08AR\uff09\u307e\u305f\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff08AD\uff09\u5f62\u5f0f\u3067\u3082\u907a\u4f1d\u3057\u307e\u3059\u3002XLAS\u306e\u7537\u6027\u60a3\u8005\u306f\u3001\u5973\u6027\u60a3\u8005\u3068\u6bd4\u3079\u3066\u65e9\u671f\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u3088\u308a\u91cd\u75c7\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306fX\u67d3\u8272\u4f53\u4e0d\u6d3b\u6027\u5316\u306e\u5f71\u97ff\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u75c5\u6c17\u306f\u8840\u5c3f\u3084\u86cb\u767d\u5c3f\u3068\u3068\u3082\u306b\u9032\u884c\u3057\u3001\u6700\u7d42\u7684\u306b\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff09\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u6027\u306e\u814e\u75be\u60a3\u306e\u4e2d\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u3082\u306e\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u305d\u306e\u767a\u751f\u7387\u306f5,000\u4eba\u306b1\u4eba\u304b\u308953,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b9f\u969b\u306e\u6709\u75c5\u7387\u306f\u3001\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u3084\u4e0d\u5b8c\u5168\u306a\u6d78\u900f\u7387\u306b\u3088\u308a\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u60a3\u8005\u304c\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002XLAS\u306e\u7537\u6027\u60a3\u8005\u306e\u7d0490%\u304c40\u6b73\u307e\u3067\u306bESKD\u3092\u767a\u75c7\u3059\u308b\u4e00\u65b9\u3001\u5973\u6027\u60a3\u8005\u3067\u306f40\u6b73\u307e\u3067\u306bESKD\u3092\u767a\u75c7\u3059\u308b\u5272\u5408\u306f\u7d0412%\u3067\u3059\u3002AR\u578b\u306e\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u6bd4\u8f03\u7684\u307e\u308c\u3067\u3059\u304c\u3001\u91cd\u7be4\u306a\u814e\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002AD\u578b\u306e\u5834\u5408\u306f\u8840\u5c3f\u306e\u307f\u306e\u75c7\u72b6\u304c\u591a\u304f\u3001ESKD\u3078\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001COL4A5\uff08XLAS\uff09\u3001COL4A3\u3001\u307e\u305f\u306fCOL4A4\uff08AR\u304a\u3088\u3073AD\u578b\uff09\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u814e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\uff08GBM\uff09\u3001\u5185\u8033\u3001\u773c\u306e\u30b3\u30e9\u30fc\u30b2\u30f3IV \u03b13\u03b14\u03b15\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u5f62\u6210\u3059\u308b\u30b3\u30e9\u30fc\u30b2\u30f3IV \u03b13\u3001\u03b14\u3001\u03b15\u9396\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u3001\u3053\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u7570\u5e38\u307e\u305f\u306f\u6b20\u640d\u3057\u3001\u3053\u308c\u3089\u306e\u7d44\u7e54\u306b\u9032\u884c\u6027\u306e\u640d\u50b7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>XLAS\u306f\u3001COL4A5\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306eX\u67d3\u8272\u4f53\u4e0a\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002\u5927\u898f\u6a21\u6b20\u5931\u3001\u7d42\u6b62\u30b3\u30c9\u30f3\u5909\u7570\u3001\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\u306f\u91cd\u7be4\u306a\u8868\u73fe\u578b\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u65e9\u671f\u306e\u814e\u4e0d\u5168\u3084\u8074\u899a\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u30b0\u30ea\u30b7\u30f3\u7f6e\u63db\u306a\u3069\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u7f6e\u63db\u3055\u308c\u308b\u30a2\u30df\u30ce\u9178\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u3001\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u3002AR\u578b\u306e\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001COL4A3\u307e\u305f\u306fCOL4A4\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3057\u3001XLAS\u3068\u540c\u69d8\u306b\u91cd\u7be4\u306a\u8868\u73fe\u578b\u3092\u793a\u3057\u307e\u3059\u3002AD\u578b\u306e\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u3001\u901a\u5e38\u306f\u8840\u5c3f\u306e\u307f\u3067\u3001\u814e\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306f\u3001\u814e\u3001\u8074\u899a\u3001\u304a\u3088\u3073\u773c\u306e\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u814e\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u6301\u7d9a\u7684\u306a\u9855\u5fae\u93e1\u7684\u8840\u5c3f\u304c\u6700\u3082\u65e9\u671f\u306b\u73fe\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u3068\u86cb\u767d\u5c3f\u3092\u4f34\u3044\u3001\u814e\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u6700\u7d42\u7684\u306bESKD\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u899a\u969c\u5bb3\u306f\u3001XLAS\u306e\u7537\u6027\u3084AR\u578b\u306e\u60a3\u8005\u3067\u601d\u6625\u671f\u3054\u308d\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9ad8\u97f3\u57df\u304b\u3089\u8074\u529b\u4f4e\u4e0b\u304c\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306b\u7279\u7570\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u4ed6\u306b\u3082\u7db2\u819c\u306e\u767d\u6591\u3084\u5074\u65b9\u7db2\u819c\u306e\u83f2\u8584\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>XLAS\u306e\u7537\u6027\u306f\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u4e00\u65b9\u3067\u3001\u5973\u6027\u3067\u306fX\u67d3\u8272\u4f53\u306e\u30e9\u30f3\u30c0\u30e0\u306a\u4e0d\u6d3b\u6027\u5316\u306b\u3088\u308a\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002AR\u578b\u306fXLAS\u306e\u7537\u6027\u3068\u985e\u4f3c\u306e\u7d4c\u904e\u3092\u305f\u3069\u308a\u3001AD\u578b\u306f\u901a\u5e38\u8840\u5c3f\u306e\u307f\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u6240\u898b\u3001\u5bb6\u65cf\u6b74\u3001\u814e\u751f\u691c\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c3f\u691c\u67fb\u3067\u306f\u3001\u307b\u307c\u5168\u4f8b\u3067\u9855\u5fae\u93e1\u7684\u8840\u5c3f\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u814e\u751f\u691c\u306e\u8d85\u5fae\u7d30\u69cb\u9020\u89e3\u6790\u3067\u306f\u3001GBM\u306e\u83f2\u8584\u5316\u3001\u5c64\u677f\u69cb\u9020\u306e\u5909\u5316\u3001\u300c\u866b\u98df\u3044\u69d8\u300d\u6240\u898b\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u514d\u75ab\u7d44\u7e54\u5316\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u30b3\u30e9\u30fc\u30b2\u30f3IV \u03b15\u9396\u306e\u67d3\u8272\u6b20\u640d\u3084\u4e0d\u898f\u5247\u306a\u5206\u5e03\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b\u691c\u67fb\u3067\u306f\u3001\u9ad8\u97f3\u57df\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u65e9\u671f\u5146\u5019\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u691c\u67fb\u3067\u306f\u3001\u5186\u9310\u6c34\u6676\u4f53\u3084\u7db2\u819c\u7570\u5e38\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001COL4A5\u3001COL4A3\u3001COL4A4\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u30bf\u30fc\u30b2\u30c3\u30c8\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u306e\u65b9\u304c\u691c\u51fa\u611f\u5ea6\u304c\u9ad8\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u306e\u5bfe\u75c7\u7642\u6cd5\u306b\u3088\u308a\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30cb\u30f3-\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u7cfb\uff08RAS\uff09\u963b\u5bb3\u85ac\u3067\u3042\u308b\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\u306f\u3001\u86cb\u767d\u5c3f\u3092\u6e1b\u5c11\u3055\u305b\u3001\u814e\u4e0d\u5168\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SGLT2\u963b\u5bb3\u85ac\u306f\u3001\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u3055\u3089\u306b\u6291\u5236\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u899a\u969c\u5bb3\u306b\u306f\u88dc\u8074\u5668\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u3001\u814e\u6a5f\u80fd\u691c\u67fb\u3001\u8840\u5727\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672b\u671f\u814e\u4e0d\u5168\u306b\u5bfe\u3057\u3066\u306f\u3001\u814e\u79fb\u690d\u304c\u6700\u3082\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u79fb\u690d\u5f8c\u306e\u7d4c\u904e\u306f\u4e00\u822c\u306b\u826f\u597d\u3067\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u6297GBM\u75c5\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u907a\u4f1d\u5f62\u5f0f\u3001\u907a\u4f1d\u5b50\u578b\u3001\u65e9\u671f\u6cbb\u7642\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>XLAS\u306e\u7537\u6027\u306e90%\u306f40\u6b73\u307e\u3067\u306bESKD\u3092\u767a\u75c7\u3057\u3001\u91cd\u75c7\u4f8b\u3067\u306f30\u6b73\u4ee5\u524d\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>XLAS\u306e\u5973\u6027\u306f\u4e88\u5f8c\u304c\u591a\u69d8\u3067\u300160\u6b73\u307e\u3067\u306bESKD\u3092\u767a\u75c7\u3059\u308b\u5272\u5408\u306f15-30%\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>AR\u578b\u306fXLAS\u306e\u7537\u6027\u3068\u985e\u4f3c\u3057\u3001\u82e5\u5e74\u6210\u4eba\u671f\u306bESKD\u306b\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>AD\u578b\u306f\u4e00\u822c\u7684\u306b\u8efd\u75c7\u3067\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306fESKD\u3092\u767a\u75c7\u3057\u307e\u305b\u3093\u304c\u3001\u4e00\u90e8\u306e\u91cd\u75c7\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3067\u306f\u814e\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/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:\/\/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., Bielska, O., Daca-Roszak, P., Jankowski, M., Szczepa\u0144ska, M., Roszkowska-Bjanid, D., Ku\u017ama-Mroczkowska, E., Pa\u0144czyk-Tomaszewska, M., Moczulska, A., Dro\u017cd\u017c, D., Hadjipanagi, D., Deltas, C., Ostalska-Nowicka, D., Rabiega, A., Taraszkiewicz, J., Taranta-Janusz, K., Wieczorkiewicz-Plaza, A., Jobs, K., Mews, J., \u2026 Lipska-Zi\u0119tkiewicz, B. S. (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., Yan, X., Luo, Z., Fu, X., Li, Z., Xu, Q., \u2026 Lu, D. (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<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":30,"template":"page_gd.php","class_list":["post-33554","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\/33554","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33554\/revisions"}],"predecessor-version":[{"id":127737,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33554\/revisions\/127737"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}