{"id":8519,"date":"2026-08-13T20:16:50","date_gmt":"2026-08-13T20:16:50","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=8519"},"modified":"2026-08-15T12:13:54","modified_gmt":"2026-08-15T12:13:54","slug":"sindromes-cerebro-renales","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/ja\/sindromes-cerebro-renales\/","title":{"rendered":"\u8133\u814e\u75c7\u5019\u7fa4\u3002"},"content":{"rendered":"<h3 class=\"wp-block-heading\">\u5c0e\u5165<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u8133\u814e\u75c7\u5019\u7fa4\u306f\u3001\u5171\u901a\u306e\u75c5\u614b\u751f\u7406\u5b66\u7684\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u4e21\u65b9\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u4ee3\u8b1d\u7d4c\u8def\u306e\u6b20\u9665\uff09\u3001\u307e\u305f\u306f\u8133\u3068\u814e\u81d3\u3067\u91cd\u8981\u306b\u767a\u73fe\u3055\u308c\u308b\u907a\u4f1d\u5b50\u306e\u591a\u9762\u767a\u73fe\uff08\u901a\u5e38\u3001\u6bdb\u69d8\u4f53\u30ec\u30d9\u30eb\uff09\u306e\u3044\u305a\u308c\u304b\u306b\u3088\u308a\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u95a2\u4e0e\u3068\u814e\u6a5f\u80fd\u969c\u5bb3\u304c\u5171\u5b58\u3059\u308b\u7570\u8cea\u306a\u30b0\u30eb\u30fc\u30d7\u3092\u69cb\u6210\u3057\u307e\u3059\u3002\u4e21\u65b9\u306e\u30b0\u30eb\u30fc\u30d7\u3092\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u3001\u88dc\u5b8c\u7684\u306a\u7814\u7a76\u3001\u4e88\u5f8c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6307\u91dd\u3068\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u4ee3\u8b1d\u6027\u8133\u814e\u75c7\u5019\u7fa4<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u306f\u901a\u5e38\u3001\u814e\u81d3\u306e\u95a2\u4e0e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 <strong>\u7ba1\u72b6\u306e<\/strong> \uff08\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u578b\u30d1\u30bf\u30fc\u30f3\u307e\u305f\u306f\u5c3f\u7d30\u7ba1\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u4f34\u3046\uff09\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u306b\u306f\u3001\u901a\u5e38\u3001\u4f4e\u8840\u5727\u3001\u3066\u3093\u304b\u3093\uff08\u4e73\u5150\u3051\u3044\u308c\u3093\u3092\u542b\u3080\u65e9\u671f\u767a\u75c7\u306e\u5834\u5408\u304c\u591a\u3044\uff09\u3001\u767a\u9054\u9045\u5ef6\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u5171\u901a\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u901a\u5e38\u3001\u5fc5\u9808\u306e\u751f\u5316\u5b66\u7d4c\u8def (\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u3001\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0 \u03b2 \u9178\u5316\u3001\u30a2\u30df\u30ce\u9178\/\u30b7\u30b9\u30c1\u30f3\u8f38\u9001) \u306e\u6b20\u9665\u3067\u3042\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u3001\u814e\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u3084\u795e\u7d4c\u7cfb\u306a\u3069\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u304c\u9ad8\u3044\u7d44\u7e54\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4ee3\u8b1d\u56de\u8ee2\u304c\u6fc0\u3057\u3044\u7d44\u7e54\u304c\u540c\u6642\u306b\u640d\u306a\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">1.1 \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>\uff1a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u547c\u5438\u9396\u306e\u6b20\u9665\uff08\u8907\u5408\u4f53 I \uff5e V\uff09\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u306e\u67af\u6e07\u307e\u305f\u306f\u7a81\u7136\u5909\u7570\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u578b\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u75c7\uff08\u6b63\u5e38\u8840\u7cd6\u6027\u7cd6\u5c3f\u3001\u30ea\u30f3\u9178\u5c3f\u3001\u5168\u8eab\u6027\u30a2\u30df\u30ce\u9178\u5c3f\u75c7\u3001\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff09\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>\uff1a\u69cb\u9020\u7684\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308b\u5834\u5408\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\uff08\u4e73\u5150\u3051\u3044\u308c\u3093\u3092\u542b\u3080\uff09\u3001\u767a\u9054\u9000\u884c\u3001\u5927\u8133\u57fa\u5e95\u6838\/\u4f53\u5e79\u95a2\u4e0e\uff08\u30ea\u30fc\u75c7\u5019\u7fa4\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u30ad\u30fc<\/strong>\uff1a\u521d\u671f\u6bb5\u968e\u3067\u306f\u6b63\u5e38\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u304c\u3001\u4e73\u9178\u5869\/\u30d4\u30eb\u30d3\u30f3\u9178\u5869\uff08\u8840\u6db2\u3001CSF\uff09\u306e\u4e0a\u6607\u3002\u30ea\u30fc\u30d1\u30bf\u30fc\u30f3\u3092\u4f34\u3046\u8133 MRI (\u5e38\u306b\u5b58\u5728\u3059\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093)\u3002\u7b4b\u751f\u691c;\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> \u4e73\u9178\/\u30d4\u30eb\u30d3\u30f3\u9178\u6bd4\u306e\u4e0a\u6607\uff08&gt;20-25\u306f\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u307e\u305f\u306f\u7cd6\u65b0\u751f\u306e\u6b20\u9665\u3092\u793a\u3059\u4e73\u9178\u4e0a\u6607\u306e\u6b63\u5e38\u306a\u6bd4\u3068\u306f\u7570\u306a\u308a\u3001\u547c\u5438\u9396\u306e\u6b20\u9665\u3092\u793a\u5506\u3057\u307e\u3059\uff09\u3002\u8840\u6f3f\u30a2\u30df\u30ce\u9178: \u30a2\u30e9\u30cb\u30f3\u306e\u4e0a\u6607 (\u6301\u7d9a\u7684\u306a\u4e73\u9178\u8840\u75c7\u306e\u9593\u63a5\u7684\u306a\u53cd\u6620)\u3002\u5c3f\u4e2d\u306e\u6709\u6a5f\u9178: \u7279\u5b9a\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u30af\u30ec\u30d6\u30b9\u56de\u8def\u4e2d\u9593\u4f53 (\u30d5\u30de\u30eb\u9178\u3001\u30ea\u30f3\u30b4\u9178) \u304a\u3088\u3073 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u306e\u4e0a\u6607\u3092\u793a\u3059\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u30b1\u30c8\u30f3\u4f53\u306f\u901a\u5e38\u6b63\u5e38\u304b\u308f\u305a\u304b\u306b\u4e0a\u6607\u3057\u3066\u304a\u308a\u3001\u53e4\u5178\u7684\u306a\u6709\u6a5f\u9178\u8840\u75c7\u306e\u3088\u3046\u306a\u9855\u8457\u306a\u30b1\u30c8\u30fc\u30b7\u30b9\u30d1\u30bf\u30fc\u30f3\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6307\u5c0e\u4e0a\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8<\/strong>: \u6b63\u5e38\u4e73\u9178\u5869\u3068\u6b63\u5e38 MR \u306e\u4e21\u65b9 <strong>\u5f7c\u3089\u306f\u6392\u9664\u3057\u306a\u3044<\/strong> \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u3001\u7279\u306b\u82e5\u5e74\u307e\u305f\u306f\u65e9\u671f\u306e\u4e73\u5150\u306b\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.2 \u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7 (CDG)<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>: \u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u306e\u6b20\u9665 (N-\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u3001\u30bf\u30a4\u30d7 I\u3001\u307e\u305f\u306f\u30d7\u30ed\u30bb\u30b7\u30f3\u30b0\u3001\u30bf\u30a4\u30d7 II)\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 <strong>PMM2-CDG<\/strong> (\u4ee5\u524d\u306e CDG-Ia)\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u5c3f\u7d30\u7ba1\u30bf\u30f3\u30d1\u30af\u5c3f\u3001\u3044\u304f\u3064\u304b\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u306f\u3042\u308b\u7a0b\u5ea6\u306e\u5c3f\u7d30\u7ba1\u6a5f\u80fd\u4e0d\u5168\u3002\u53e4\u5178\u7684\u306a\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u3088\u308a\u3082\u6d3e\u624b\u3055\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>\uff1a\u521d\u671f\u306e\u91cd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u591a\u304f\u306e\u5834\u5408\u3001\u73fe\u308f\u308c\u3066\u3044\u308b\u5fb4\u5019\uff09\u3001\u3066\u3093\u304b\u3093\u3001\u9855\u8457\u306a\u767a\u80b2\u4e0d\u5168\u3001\u659c\u8996\u3001\u5c0f\u8133\u840e\u7e2e\uff08\u591a\u304f\u306e\u5834\u5408\u3001\u9045\u308c\u3066\u767a\u75c7\/\u9032\u884c\u3059\u308b\u305f\u3081\u3001\u6700\u521d\u306eMRI\u306f\u6b63\u5e38\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u3059\u308b\u30de\u30eb\u30c1\u30b7\u30b9\u30c6\u30e0\u306e\u95a2\u4e0e<\/strong>: \u51dd\u56fa\u969c\u5bb3 (\u2193\u30a2\u30f3\u30c1\u30c8\u30ed\u30f3\u30d3\u30f3 III\u3001\u30d7\u30ed\u30c6\u30a4\u30f3 C\/S)\u3001\u809d\u75be\u60a3\u3001\u5fc3\u56a2\u6db2\u8caf\u7559\u3001\u5fae\u5999\u306a\u7570\u5f62\u6027\u306e\u7279\u5fb4 (\u9665\u6ca1\u4e73\u982d\u3001\u81c0\u90e8\/\u6065\u9aa8\u4e0a\u306e\u8102\u80aa\u5206\u5e03\u306e\u7570\u5e38)\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> \u300c\u7b2c\u4e00\u9078\u629e\u300d\u306e\u4ee3\u8b1d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb (\u5c3f\u6709\u6a5f\u9178\u3001\u8840\u6f3f\u30a2\u30df\u30ce\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0\u3001\u4e73\u9178) \u306f\u901a\u5e38\u3001 <strong>\u666e\u901a<\/strong>\u3053\u308c\u81ea\u4f53\u304c\u6307\u91dd\u3068\u306a\u308b\u4e8b\u5b9f\u3067\u3059\u3002\u91cd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u591a\u7cfb\u7d71\u306e\u95a2\u4e0e\u3001\u304a\u3088\u3073\u6b63\u5e38\u306a\u57fa\u790e\u4ee3\u8b1d\u7814\u7a76\u3092\u6709\u3059\u308b\u4e73\u5150\u306f\u3001CDG \u3092\u793a\u5506\u3059\u308b\u306f\u305a\u3067\u3059\u3002\u975e\u7279\u7570\u7684\u4f4e\u8840\u7cd6\u75c7\u304a\u3088\u3073\u9ad8\u30c8\u30e9\u30f3\u30b9\u30a2\u30df\u30ca\u30fc\u30bc\u8840\u75c7\u304c\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306a\u767a\u898b\u306f\u3001\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u306e\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u3067\u3059 (I \u578b\u30d1\u30bf\u30fc\u30f3: \u30a2\u30b7\u30a2\u30ed\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u304a\u3088\u3073\u30b8\u30b7\u30a2\u30ed\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3 \u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e0\u306e\u5897\u52a0)\u3002<\/li>\n\n\n\n<li><strong>\u6307\u5c0e\u4e0a\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8<\/strong>: \u5c0f\u8133\u840e\u7e2e\u306f\u901a\u5e38\u9032\u5316\u4e0a\u306e\u6240\u898b\u3067\u3042\u308a\u3001\u5fc5\u305a\u3057\u3082\u751f\u5f8c\u6570\u9031\u9593\u306b\u5b58\u5728\u3059\u308b\u3068\u306f\u9650\u3089\u306a\u3044\u305f\u3081\u3001\u5e7c\u5150\u306e\u6b63\u5e38\u306a\u8133 MRI \u306f CDG \u3068\u4e00\u81f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.3 \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u969c\u5bb3 \u2014 \u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30eb<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>: \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u306e\u6b20\u9665 (\u907a\u4f1d\u5b50) <em>PEX<\/em>\uff09\u3001\u8d85\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u84c4\u7a4d\u3068\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u6a5f\u80fd\u306e\u6b20\u640d\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>: \u512a\u52e2 <strong>\u814e\u76ae\u8cea\u56a2\u80de<\/strong>\u3001\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\/\u30ed\u30a6\u3068\u306f\u5bfe\u7167\u7684\u306b\uff09\u9bae\u3084\u304b\u306a\u5438\u53ce\u6027\u5c3f\u7d30\u7ba1\u75c7\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>\uff1a\u51fa\u751f\u6642\u304b\u3089\u306e\u975e\u5e38\u306b\u91cd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u306e\u4e2d\u3067\u6700\u3082\u91cd\u5ea6\u306e\u4e00\u3064\uff09\u3001\u521d\u671f\u767a\u4f5c\uff08\u4e73\u5150\u3051\u3044\u308c\u3093\u3092\u542b\u3080\uff09\u3001MRI\u3067\u306e\u795e\u7d4c\u7d30\u80de\u904a\u8d70\u306e\u5909\u5316\uff08\u591a\u5c0f\u8133\u56de\u3001\u539a\u904b\u52d5\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u3059\u308b\u7279\u6027<\/strong>\uff1a\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u7570\u5f62\uff08\u9855\u8457\u306a\u984d\u3001\u5e83\u3044\u6cc9\u9580\u3001\u5185\u773c\u89d2\u3001\u80a5\u539a\u75c7\uff09\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\/\u80c6\u6c41\u3046\u3063\u6ede\u3092\u4f34\u3046\u809d\u816b\u5927\u3001\u773c\u75be\u60a3\uff08\u767d\u5185\u969c\u3001\u8272\u7d20\u6027\u7db2\u819c\u75c7\u3001\u7dd1\u5185\u969c\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> VLCFA \u306e\u4e0a\u6607 (C26:0 \u304a\u3088\u3073 C24:0\/C22:0 \u6bd4\u3001C26:0\/C22:0 \u306e\u4e0a\u6607) \u306b\u52a0\u3048\u3066\u3001\u5b8c\u5168\u306a\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0 \u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3067\u306f\u3001\u30d5\u30a3\u30bf\u30f3\u9178\u3068\u30d7\u30ea\u30b9\u30bf\u30f3\u9178\u3001\u8840\u6f3f\u4e2d\u306e\u30d4\u30da\u30b3\u30ea\u30f3\u9178\u3001\u304a\u3088\u3073\u8d64\u8840\u7403\u30d7\u30e9\u30ba\u30de\u30ed\u30fc\u30b2\u30f3\u306e\u4e0a\u6607\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 <strong>\u964d\u81e8\u3057\u305f<\/strong> (\u3053\u306e\u6700\u5f8c\u306e\u60c5\u5831\u306f\u3001\u305d\u306e\u5408\u6210\u304c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u6a5f\u80fd\u306b\u4f9d\u5b58\u3059\u308b\u305f\u3081\u3001\u8fc5\u901f\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3057\u3066\u7279\u306b\u5f79\u7acb\u3061\u307e\u3059)\u3002 \u300c\u6a19\u6e96\u300d\u4ee3\u8b1d\u7814\u7a76 (\u6709\u6a5f\u9178\u3001\u30a2\u30df\u30ce\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0) \u306f\u901a\u5e38\u3001CDG \u3068\u540c\u69d8\u306b\u6b63\u5e38\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.4 \u30ed\u30a6\u75c7\u5019\u7fa4\uff08\u773c\u8133\u814e\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>: \u306e\u5909\u7570 <em>OCRL1<\/em>, X\u9023\u9396\u76f8\u7d9a\uff08\u4e8b\u5b9f\u4e0a\u7537\u6027\u306e\u307f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u578b\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u75c7\u3067\u3059\u304c\u3001 <strong>\u901a\u5e38\u306f\u5c11\u3057\u9045\u308c\u3066\u73fe\u308c\u307e\u3059<\/strong> \uff083\uff5e12\u304b\u6708\uff09\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3088\u308a\u3082\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>\uff1a\u91cd\u5ea6\u306e\u65b0\u751f\u5150\u4f4e\u8840\u5727\uff08\u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30d9\u30a4\u30d3\u30fc\u300d\uff09\u3001\u75c7\u4f8b\u306e\u7d04\u534a\u6570\u306b\u767a\u4f5c\u3001\u77e5\u7684\u969c\u5bb3\uff08\u5f8c\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u8981\u306a\u8b58\u5225\u7279\u6027<\/strong>: <strong>\u4e21\u5074\u5148\u5929\u6027\u767d\u5185\u969c\u3001\u5b9f\u8cea\u7684\u306b\u4e00\u5b9a\uff08&gt;95-100%\uff09<\/strong>\u3001\u751f\u307e\u308c\u3064\u304d\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u77b3\u5b54\u6563\u5927\u3092\u4f34\u3046\u773c\u79d1\u691c\u67fb\u3067\u691c\u51fa\u3067\u304d\u307e\u3059\u3002\u7dd1\u5185\u969c\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059 (\u7d04 50%)\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> \u6392\u5c3f\u30d1\u30bf\u30fc\u30f3\u306f\u3001\u975e\u7279\u7570\u7684\u306a\u5168\u8eab\u6027\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\uff08\u5168\u8eab\u6027\u30a2\u30df\u30ce\u9178\u5c3f\u75c7\u3001\u6b63\u5e38\u8840\u7cd6\u3092\u4f34\u3046\u8840\u7cd6\u5c3f\u75c7\u3001\u30ea\u30f3\u9178\u5c3f\u75c7\u3001\u4e8c\u70ad\u9178\u5c3f\u75c7\uff09\u306e\u30d1\u30bf\u30fc\u30f3\u3067\u3042\u308a\u3001\u305d\u306e\u5b9f\u4f53\u306b\u7279\u6709\u306e\u8840\u6f3f\u307e\u305f\u306f\u6709\u6a5f\u9178\/\u30a2\u30df\u30ce\u9178\u306e\u751f\u5316\u5b66\u30de\u30fc\u30ab\u30fc\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4ed6\u306e\u3082\u306e\u3068\u306f\u7570\u306a\u308a\u3001\u3053\u3053\u3067\u306f\u300c\u4ee3\u8b1d\u8a3a\u65ad\u306e\u30ae\u30e3\u30c3\u30d7\u300d\u306f\u773c\u306e\u75c7\u72b6\uff08\u767d\u5185\u969c\uff09\u3068\u907a\u4f1d\u5b50\/\u9175\u7d20\u7814\u7a76\uff08\u8840\u6db2\u306e\u6d3b\u52d5\u6027\uff09\u306b\u3088\u3063\u3066\u57cb\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7dda\u7dad\u82bd\u7d30\u80de\u306b\u304a\u3051\u308bOCRL\u306e\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30a4\u30ce\u30b7\u30c8\u30fc\u30eb-4,5-\u4e8c\u30ea\u30f3\u91785-\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u3001\u8b58\u5225\u53ef\u80fd\u306a\u4ee3\u8b1d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092\u5099\u3048\u3066\u3044\u306a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u6307\u5c0e\u4e0a\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8<\/strong>: \u77b3\u5b54\u6563\u5927\u3092\u4f34\u3046\u901a\u5e38\u306e\u773c\u79d1\u691c\u67fb\u3067\u306f\u3001\u773c\u306e\u6240\u898b\u304c\u4e00\u5b9a\u3067\u3042\u308b\u3053\u3068\u3092\u8003\u616e\u3059\u308b\u3068\u3001Lowe \u306e\u8a3a\u65ad\u306f\u975e\u5e38\u306b\u53ef\u80fd\u6027\u304c\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.5 \u814e\u75c7\u6027\u30b7\u30b9\u30c1\u30f3\u75c7<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>: \u306e\u5909\u7570 <em>CTNS<\/em>\u3001\u30b7\u30b9\u30c1\u30f3\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u84c4\u7a4d\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>: \u5b8c\u5168\u306a\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u75c7\u5019\u7fa4\u3002\u901a\u5e38\u3001\u4ee5\u524d\u306e\u75c7\u72b6\u3088\u308a\u3082\u82e5\u5e72\u9045\u308c\u3066 (6 \uff5e 12 \u304b\u6708) \u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>: \u53e4\u5178\u7684\u306a\u5f62\u614b\u3067\u306f\u3001\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u306f\u4e73\u5150\u671f\u3067\u306f\u305d\u308c\u307b\u3069\u76ee\u7acb\u305f\u305a\u3001\u5f8c\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u9032\u884c\u6027\u306e\u8a8d\u77e5\u969c\u5bb3\u3001\u904b\u52d5\u306e\u5909\u5316\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> \u767d\u8840\u7403\u5185\u30b7\u30b9\u30c1\u30f3\u306e\u4e0a\u6607\uff08\u30bf\u30f3\u30d1\u30af\u8cea 1 mg \u3042\u305f\u308a 2 nmol \u3092\u8d85\u3048\u308b\u30d8\u30df\u30b7\u30b9\u30c1\u30f3\uff09\u304c\u7279\u7570\u7684\u306a\u8a3a\u65ad\u691c\u67fb\u3067\u3059\u3002\u6b8b\u308a\u306e\u4ee3\u8b1d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\uff08\u6709\u6a5f\u9178\u3001\u8840\u6f3f\u30a2\u30df\u30ce\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0\uff09\u306f\u6b63\u5e38\u3067\u3059\u3002\u30a2\u30df\u30ce\u9178\u5c3f\u306f\u5168\u8eab\u6027\u3067\u3059\u304c\u3001\u5c3f\u7d30\u7ba1\u7531\u6765\uff08\u4e8c\u6b21\u6027\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\uff09\u3067\u3042\u308a\u3001\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u306e\u4e3b\u8981\u306a\u969c\u5bb3\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.6 \u53e4\u5178\u7684\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\uff08GALT\u6b20\u640d\u75c7\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb\uff1a<\/strong> \u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08GALT\uff09\u6b20\u640d\u75c7\u3002\u809d\u81d3\u3001\u814e\u81d3\u3001\u6c34\u6676\u4f53\u3001\u795e\u7d4c\u7cfb\u306b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u3068\u30ac\u30e9\u30af\u30c1\u30c8\u30fc\u30eb\u304c\u6709\u6bd2\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e\uff1a<\/strong> \u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u306b\u84c4\u7a4d\u3057\u305f\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u306e\u76f4\u63a5\u6bd2\u6027\u306b\u3088\u308b\u30d5\u30a1\u30f3\u30b3\u30fc\u30cb\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e:<\/strong> \u65b0\u751f\u5150\u6025\u6027\u671f\uff08\u4e73\u7cd6\u6388\u4e73\u958b\u59cb\u5f8c\uff09 - \u7121\u6c17\u529b\u3001\u4f4e\u8840\u5727\u3001\u6442\u98df\u62d2\u5426\u3001\u5614\u5410\u3002\u5287\u75c7\u6557\u8840\u75c7\u306e\u30ea\u30b9\u30af\u5897\u52a0 <em>\u5927\u8178\u83cc<\/em> (\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u306f\u767d\u8840\u7403\u306e\u6a5f\u80fd\u3092\u963b\u5bb3\u3057\u307e\u3059)\u3002\u9577\u671f\u7684\u306b\u306f\u3001\u53b3\u683c\u306a\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u9664\u53bb\u98df\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3001\u5973\u5150\u306e\u539f\u767a\u6027\u5375\u5de3\u4e0d\u5168\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u3059\u308b\u7279\u6027:<\/strong> \u6cbb\u7642\u3057\u306a\u3044\u3068\u809d\u786c\u5909\u306b\u9032\u884c\u3059\u308b\u80c6\u6c41\u3046\u3063\u6ede\u6027\u9ec4\u75b8\u304a\u3088\u3073\u809d\u816b\u5927\u3002\u30ac\u30e9\u30af\u30c1\u30c8\u30fc\u30eb\u306e\u84c4\u7a4d\uff08\u300c\u6cb9\u6ef4\u300d\uff09\u306b\u3088\u308b\u767d\u5185\u969c\u3002\u51dd\u56fa\u969c\u5bb3\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\u4ee3\u8b1d\u8a3a\u65ad:<\/strong> \u8a3a\u65ad\u7387\u306e\u9ad8\u3044\u53e4\u5178\u7684\u306a\u6240\u898b\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002 <strong>\u5c3f\u4e2d\u306e\u967d\u6027\u9084\u5143\u7269\u8cea\u3068\u9670\u6027\u8840\u7cd6\u306e\u9593\u306e\u89e3\u96e2<\/strong> (\u30b0\u30eb\u30b3\u30fc\u30b9\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u30c6\u30b9\u30c8\u30b9\u30c8\u30ea\u30c3\u30d7\u3001\u30b0\u30eb\u30b3\u30fc\u30b9\u306b\u7279\u7570\u7684\u3001\u9670\u6027; \u30d9\u30cd\u30c7\u30a3\u30af\u30c8\/\u30af\u30ea\u30cb\u30c6\u30b9\u30c8\u30c6\u30b9\u30c8\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u3092\u542b\u3080\u9084\u5143\u7cd6\u3092\u691c\u51fa\u3001\u967d\u6027)\u3002\u3053\u306e\u89e3\u96e2\u306f\u3001\u4e73\u5150\u304c\u98df\u4e8b\u304b\u3089\u4e73\u7cd6\u3092\u6442\u53d6\u3057\u3066\u3044\u308b\u9650\u308a\u3001\u4e8b\u5b9f\u4e0a\u7279\u5fb4\u7684\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u3059\u3067\u306b\u4e73\u7cd6\u3092\u6442\u53d6\u3057\u306a\u304f\u306a\u3063\u305f\u5834\u5408\u306b\u306f\u4e73\u7cd6\u304c\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8d64\u8840\u7403\u306e\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u306e\u4e0a\u6607\u3068\u3001\u8d64\u8840\u7403\u306eGALT\u6d3b\u6027\u306e\u6b20\u5982\u307e\u305f\u306f\u5927\u5e45\u306a\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u6b8b\u308a\u306e\u57fa\u672c\u4ee3\u8b1d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb (\u6709\u6a5f\u9178\u3001\u30a2\u30df\u30ce\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0) \u306f\u7279\u5fb4\u7684\u306b\u6b63\u5e38\u3067\u3042\u308b\u305f\u3081\u3001\u6557\u8840\u75c7\/\u5614\u5410\u65b0\u751f\u5150\u306b\u304a\u3051\u308b\u6709\u6a5f\u9178\u8840\u75c7\u3084\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u7570\u5e38\u3068\u533a\u5225\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981\u306a\u6307\u5c0e\u30dd\u30a4\u30f3\u30c8:<\/strong> \u30b0\u30eb\u30fc\u30d7\u5185\u306e\u4ed6\u306e\u7d44\u7e54\u3068\u81e8\u5e8a\u7684\u306b\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u91cd\u8981\u306a\u30c7\u30fc\u30bf\u306f\u3001 <strong>\u6bcd\u4e73\u80b2\u5150\u306e\u5c0e\u5165\u3068\u306e\u6642\u9593\u7684\u95a2\u4fc2<\/strong> \u2014 \u4e73\u7cd6\u306e\u6442\u53d6\uff08\u6bcd\u4e73\u307e\u305f\u306f\u6a19\u6e96\u30df\u30eb\u30af\uff09\u3092\u958b\u59cb\u3059\u308b\u3068\u75c7\u72b6\u304c\u73fe\u308c\u3001\u4e2d\u6b62\u3059\u308b\u3068\u75c7\u72b6\u306f\u6539\u5584\u3057\u307e\u3059\u3002\u767d\u5185\u969c\u306f\u6700\u521d\u306b\u691c\u51fa\u3067\u304d\u308b\u5146\u5019\u3067\u3042\u308a\u3001\u30ed\u30a6\u75c5\u306e\u9451\u5225\u8a3a\u65ad\u306b\u542b\u307e\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\uff08\u5148\u5929\u6027\u304a\u3088\u3073\u56fa\u5b9a\u6027\uff09\u3068\u306f\u7570\u306a\u308a\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u5146\u5019\u306f\u5f8c\u3067\u73fe\u308c\u3001 <strong>\u90e8\u5206\u7684\u306b\u53ef\u9006\u7684<\/strong> \u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u3092\u542b\u307e\u306a\u3044\u98df\u4e8b\u304c\u65e9\u671f\u306b\u78ba\u7acb\u3055\u308c\u305f\u5834\u5408\u3002 <\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">1.7 \u4ee3\u8b1d\u5dee\u3067\u8003\u616e\u3059\u3079\u304d\u305d\u306e\u4ed6\u306e\u5b9f\u4f53: <\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6709\u6a5f\u9178\u8840\u75c7<\/strong> (\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u3001\u30d7\u30ed\u30d4\u30aa\u30f3\u9178): \u30a2\u30cb\u30aa\u30f3\u30ae\u30e3\u30c3\u30d7\u306e\u4e0a\u6607\u3092\u4f34\u3046\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9 (\u6b63\u5e38\u306a AG \u3067\u751f\u3058\u308b\u5c3f\u7d30\u7ba1\u75c7\u3068\u306f\u7570\u306a\u308a\u307e\u3059)\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3001\u30b1\u30c8\u30fc\u30b7\u30b9\u3002<\/li>\n\n\n\n<li><strong>\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u306e\u7570\u5e38<\/strong>\uff1a\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u304c\u4e3b\u306a\u6240\u898b\u3067\u3042\u308a\u3001\u5178\u578b\u7684\u306a\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u5c3f\u7d30\u7ba1\u969c\u5bb3\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5<\/strong> \uff08\u5f8c\u671f\uff09\uff1a\u9032\u884c\u6027\u306e\u814e\u75c7\u304a\u3088\u3073CNS\u306e\u95a2\u4e0e\uff08\u8133\u5352\u4e2d\uff09\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u306e\u6b8b\u308a\u306e\u90e8\u5206\u3088\u308a\u3082\u304b\u306a\u308a\u9045\u308c\u3066\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u907a\u4f1d\u7684\u30fb\u69cb\u9020\u7684\u539f\u56e0\u306b\u3088\u308b\u8133\u814e\u75c7\u5019\u7fa4\uff08\u7e4a\u6bdb\u75c5\u304a\u3088\u3073\u95a2\u9023\u75be\u60a3\uff09<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u306f\u3001\u8133\u3068\u814e\u81d3\u306e\u9593\u306e\u75c5\u614b\u751f\u7406\u5b66\u7684\u3064\u306a\u304c\u308a\u306f\u5171\u6709\u306e\u4ee3\u8b1d\u7d4c\u8def\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 <strong>\u4e00\u6b21\u7e4a\u6bdb\u307e\u305f\u306f\u95a2\u9023\u69cb\u9020\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u7523\u7269\u306e\u767a\u73fe<\/strong>\u3001\u814e\u5c3f\u7d30\u7ba1\u7d30\u80de\u3068\u4e0a\u8863\u3001\u5149\u53d7\u5bb9\u4f53\u304a\u3088\u3073CNS\u306e\u4ed6\u306e\u69cb\u9020\u306e\u4e21\u65b9\u306b\u5b58\u5728\u3057\u307e\u3059\u3002\u814e\u81d3\u306e\u95a2\u4e0e\u306f\u901a\u5e38\u3001 <strong>\u69cb\u9020\u7684\u306a<\/strong> \u7ba1\u72b6\/\u5438\u53ce\u6027\u3067\u306f\u306a\u304f\uff08\u56a2\u80de\u3001\u7570\u5f62\u6210\uff09\u3001\u7e4a\u6bdb\u306b\u3088\u308b\u4ed6\u306e\u81d3\u5668\uff08\u7db2\u819c\u3001\u809d\u81d3\u3001\u9aa8\u683c\uff09\u306e\u95a2\u4e0e\u3068\u3057\u3070\u3057\u3070\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">2.1 \u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>\uff1a\u7e4a\u6bdb\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\uff08\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u30aa\u30ea\u30b4\u30b8\u30a7\u30cb\u30c3\u30af\uff09\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50 <em>\u63b2\u793a\u677f<\/em> \u95a2\u4e0e\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u53ef\u5909\u69cb\u9020\u7570\u5e38 - \u7570\u5f62\u6210\u3001\u56a2\u80de\u3001\u676f\u5947\u5f62\u3002\u6162\u6027\u814e\u81d3\u75c5\u306b\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\/\u305d\u306e\u4ed6\u306e\u30b7\u30b9\u30c6\u30e0<\/strong>\uff1a\u53ef\u5909\u6027\u306e\u77e5\u7684\u969c\u5bb3\u3001\u8272\u7d20\u6027\u7db2\u819c\u75c7\uff08\u901a\u5e38\u3001\u6700\u3082\u521d\u671f\u304b\u3064\u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\uff09\u3001\u8ef8\u5f8c\u591a\u6307\u75c7\u3001\u5c0f\u5150\u671f\u767a\u75c7\u306e\u80a5\u6e80\u3001\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u30ad\u30fc<\/strong>: \u5c0f\u5150\u306b\u304a\u3051\u308b\u591a\u6307\u75c7 + \u8272\u7d20\u6027\u7db2\u819c\u75c7 + \u80a5\u6e80 + \u814e\u81d3\u7570\u5e38\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u8a3a\u65ad\u3092\u5f37\u304f\u5c0e\u304d\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u78ba\u8a8d\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2.2 \u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>\uff1aMRI\u3067\u7279\u5fb4\u7684\u306a\u300c\u81fc\u6b6f\u306e\u5146\u5019\u300d\u3092\u4f34\u3046\u7e4a\u6bdb\u75c7\uff08\u4e0a\u5c0f\u8133\u811a\u306e\u5909\u5316\u3092\u4f34\u3046\u866b\u6b6f\u4f4e\u5f62\u6210\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u95a2\u9023\u3059\u308b\u60a3\u8005\u30b5\u30d6\u30b0\u30eb\u30fc\u30d7\u306b\u304a\u3051\u308b\u814e\u76c2\u708e\uff08\u9ac4\u69d8\u56a2\u80de\u6027\u814e\u75c7\u3001\u814e\u4e0d\u5168\u3078\u306e\u9032\u884c\uff09\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>\uff1a\u9855\u8457\u306a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf\u3001\u65b0\u751f\u5150\u671f\u306b\u7279\u5fb4\u7684\u306a\u7570\u5e38\u306a\u547c\u5438\u30d1\u30bf\u30fc\u30f3\uff08\u983b\u547c\u5438\u3068\u7121\u547c\u5438\u304c\u4ea4\u4e92\u306b\u7e70\u308a\u8fd4\u3055\u308c\u308b\u30a8\u30d4\u30bd\u30fc\u30c9\uff09\u3001\u767a\u9054\u9045\u5ef6\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u95a2\u9023\u6240\u898b<\/strong>\uff1a\u7db2\u819c\u6b20\u640d\u816b\u3001\u91cd\u8907\u5f62\u614b\u306e\u809d\u81d3\u75c5\u5909\uff08\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u30ad\u30fc<\/strong>: MRI \u4e0a\u306e\u81fc\u6b6f\u306e\u5146\u5019\u306f\u5b9f\u8cea\u7684\u306b\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u7e4a\u6bdb\u75c5\u306e\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u7814\u7a76\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2.3 \u5b64\u7acb\u6027\u814e\u7d50\u77f3\u75c7\u304a\u3088\u3073\u95a2\u9023\u75c7\u5019\u7fa4 (Senior-L\u00f8ken)<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u69cb<\/strong>: \u4e3b\u306a\u814e\u7e4a\u6bdb\u75c7\u3001\u30b7\u30cb\u30a2\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4 (\u814e\u76c2\u708e + \u8272\u7d20\u6027\u7db2\u819c\u75c7\/\u30ec\u30fc\u30d9\u30eb\u5148\u5929\u6027\u9ed2\u5185\u969c) \u306b\u304a\u3051\u308b\u7db2\u819c\u306e\u95a2\u4e0e\u3092\u4f34\u3046\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u95a2\u4e0e<\/strong>\uff1a\u9032\u884c\u6027\u306e\u9ac4\u69d8\u56a2\u80de\u6027\u814e\u75c7\u3001\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u521d\u671f\u5fb4\u5019\u3068\u3057\u3066\u306e\u5c3f\u4e2d\u6fc3\u5ea6\u306e\u4f4e\u4e0b\u306b\u3088\u308b\u591a\u5c3f\/\u591a\u98f2\u3001\u82e5\u5e74\u6027\u306e\u601d\u6625\u671f\u306b\u304a\u3051\u308b\u672b\u671f\u814e\u4e0d\u5168\u3078\u306e\u9032\u5c55\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e<\/strong>: \u7d14\u7c8b\u306a\u5f62\u614b\u3067\u306f\u3001\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u306f\u30b8\u30e5\u30d9\u30fc\u30eb\u3084\u30d0\u30eb\u30c7-\u30d3\u30fc\u30c9\u30eb\u307b\u3069\u9855\u8457\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5c0f\u8133\u306e\u91cd\u8907\u3092\u4f34\u200b\u200b\u3046\u5f62\u614b\u3067\u306f\u904b\u52d5\u5931\u8abf\u304c\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2.4 \u591a\u767a\u6027\u56a2\u80de\u814e\u3068CNS\u306e\u95a2\u4e0e<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u591a\u56a2\u80de\u6027\u75be\u60a3\uff08ARPKD\u3001 <em>PKHD1<\/em>)<\/strong>\uff1a\u5927\u898f\u6a21\u306a\u4e21\u5074\u6027\u56a2\u80de\u814e\u306e\u95a2\u4e0e\u3001\u95a2\u9023\u3059\u308b\u5148\u5929\u6027\u809d\u7dda\u7dad\u75c7\u3002\u76f4\u63a5\u7684\u306a\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u306f\u4ee5\u524d\u306e\u7e4a\u6bdb\u75c7\u307b\u3069\u7279\u5fb4\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e8c\u6b21\u7684\u5f71\u97ff\u3092\u4f34\u3046\u9ad8\u8840\u5727\u304c\u4f34\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u512a\u6027\u591a\u56a2\u80de\u6027\u75be\u60a3\uff08ADPKD\uff09<\/strong>\uff1a\u982d\u84cb\u5185\u52d5\u8108\u7624\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u8a00\u53ca\u3059\u308b\u3053\u3068\u306f\u91cd\u8981\u3067\u3059\uff08\u305f\u3060\u3057\u3001\u982d\u84cb\u5185\u52d5\u8108\u7624\u306f\u4e73\u5150\u3067\u306f\u306a\u304f\u6210\u4eba\u306b\u767a\u751f\u3057\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2.5 \u8133\u814e\u81d3\u75c5\u5909\u3092\u4f34\u3046\u305d\u306e\u4ed6\u306e\u7e4a\u6bdb\u75c5<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30c3\u30b1\u30eb\u30fb\u30b0\u30eb\u30fc\u30d0\u30fc\u75c7\u5019\u7fa4<\/strong>\uff1a\u5f8c\u982d\u8133\u7624\u3001\u91cd\u5ea6\u306e\u56a2\u80de\u6027\u814e\u7570\u5f62\u6210\u304a\u3088\u3073\u591a\u6307\u75c7\u3092\u4f34\u3046\u3001\u7e4a\u6bdb\u75c7\u306e\u30b9\u30da\u30af\u30c8\u30eb\u306e\u81f4\u6b7b\u7684\u306a\u5f62\u614b\u3002\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u65b0\u751f\u5150\u671f\u4ee5\u964d\u306e\u751f\u6d3b\u3068\u306f\u4e21\u7acb\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7a92\u606f\u6027\u80f8\u90e8\u7570\u5f62\u6210\uff08\u30b8\u30e5\u30cc\uff09\u304a\u3088\u3073\u95a2\u9023\u3059\u308b\u7e4a\u6bdb\u969c\u5bb3\u6027\u9aa8\u683c\u75c7\u5019\u7fa4<\/strong>\uff1a\u80f8\u90e8\u9aa8\u683c\u7570\u5f62\u6210\u306b\u95a2\u9023\u3059\u308b\u56a2\u80de\u6027\u814e\u95a2\u4e0e\/\u814e\u76c2\u708e\u3002\u795e\u7d4c\u5b66\u7684\u95a2\u4e0e\u306f\u4e00\u6b21\u7684\u3067\u306f\u306a\u304f\u4e8c\u6b21\u7684\uff08\u62d8\u675f\u6027\u547c\u5438\u4e0d\u5168\u306b\u3088\u308b\u4f4e\u9178\u7d20\u75c7\uff09\u3067\u3059\u3002<\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"<p>\u306f\u3058\u3081\u306b \u8133\u814e\u75c7\u5019\u7fa4\u306f\u3001\u5171\u901a\u306e\u75c5\u614b\u751f\u7406\u5b66\u7684\u30e1\u30ab\u30cb\u30ba\u30e0 (\u4e21\u65b9\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u4ee3\u8b1d\u7d4c\u8def\u306e\u6b20\u9665) \u307e\u305f\u306f\u8133\u5185\u3067\u91cd\u8981\u306b\u767a\u73fe\u3059\u308b\u907a\u4f1d\u5b50\u306e\u591a\u9762\u767a\u73fe\u306b\u3088\u308a\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u95a2\u4e0e\u3068\u814e\u6a5f\u80fd\u969c\u5bb3\u304c\u5171\u5b58\u3059\u308b\u7570\u8cea\u306a\u30b0\u30eb\u30fc\u30d7\u3092\u69cb\u6210\u3057\u307e\u3059\u3002 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/ja\/sindromes-cerebro-renales\/\" class=\"more-link\">\u7d9a\u304d\u3092\u8aad\u3080<span class=\"screen-reader-text\"> \u300c\u8133\u814e\u75c7\u5019\u7fa4\u300d<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":8524,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-8519","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-metabolismo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8519","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=8519"}],"version-history":[{"count":6,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8519\/revisions"}],"predecessor-version":[{"id":8532,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8519\/revisions\/8532"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/8524"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=8519"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=8519"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=8519"}],"curies":[{"name":"\u3046\u30fc\u3093","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}