{"id":17519,"date":"2026-01-22T06:26:05","date_gmt":"2026-01-22T06:26:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17519"},"modified":"2026-01-22T06:26:41","modified_gmt":"2026-01-22T06:26:41","slug":"wagro-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/wagro-syndrome\/","title":{"rendered":"WAGRO syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>WAGR\u75c7\u5019\u7fa4\uff08\u5e83\u7fa9\uff09<\/strong><\/li>\n\n\n\n<li><strong>11p13\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>BDNF\u6b20\u5931\u3092\u4f34\u3046WAGR\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>11p13\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<p>WAGRO\u75c7\u5019\u7fa4\u306f\u3001WAGR\u75c7\u5019\u7fa4\u306e4\u5fb4\u5019\u306b\u300c\u80a5\u6e80\uff08Obesity\uff09\u300d\u304c\u52a0\u308f\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>W\uff1a Wilms tumor\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff0f\u5c0f\u5150\u814e\u304c\u3093\uff09<\/p>\n\n\n\n<p>A\uff1a Aniridia\uff08\u7121\u8679\u5f69\u75c7\uff09<\/p>\n\n\n\n<p>G\uff1a Genitourinary anomalies\uff08\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\uff09<\/p>\n\n\n\n<p>R\uff1a Range of developmental delays\uff08\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\uff09<\/p>\n\n\n\n<p>O\uff1a Obesity\uff08\u80a5\u6e80\uff09<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>11\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08BDNF\u907a\u4f1d\u5b50\u3092\u542b\u3080\u7bc4\u56f2\uff09<\/strong><\/p>\n\n\n\n<p>WAGRO\u75c7\u5019\u7fa4\u306e\u672c\u614b\u306f\u300111\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0811p13\uff09\u306b\u304a\u3051\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u306eWAGR\u75c7\u5019\u7fa4\u3067\u306f\u4e3b\u306b\u300cWT1\u300d\u3068\u300cPAX6\u300d\u3068\u3044\u30462\u3064\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u307e\u3059\u304c\u3001WAGRO\u75c7\u5019\u7fa4\u3067\u306f\u3053\u306e\u6b20\u5931\u7bc4\u56f2\u304c\u3088\u308a\u9060\u4f4d\uff08\u7aef\u5074\uff09\u3078\u5e83\u304c\u308a\u3001\u3055\u3089\u306b\u300cBDNF\u300d\u3068\u3044\u3046\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3093\u3067\u3044\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u4e3b\u8981\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>WT1\u907a\u4f1d\u5b50:<\/strong> \u814e\u81d3\u3068\u751f\u6b96\u5668\u306e\u767a\u9054\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u3053\u306e\u6d88\u5931\u304c\u300c\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u300d\u3068\u300c\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>PAX6\u907a\u4f1d\u5b50:<\/strong> \u773c\u306e\u5f62\u6210\u306b\u304a\u3051\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u907a\u4f1d\u5b50\u300d\u3067\u3059\u3002\u3053\u306e\u6d88\u5931\u304c\u300c\u7121\u8679\u5f69\u75c7\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>BDNF\u907a\u4f1d\u5b50 (Brain-Derived Neurotrophic Factor):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u7531\u6765\u795e\u7d4c\u6804\u990a\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3001\u795e\u7d4c\u7d30\u80de\u306e\u751f\u5b58\u3084\u53ef\u5851\u6027\u3001\u305d\u3057\u3066\u8133\u306e\u8996\u5e8a\u4e0b\u90e8\u306b\u304a\u3051\u308b\u300c\u98df\u6b32\u6291\u5236\u30b7\u30b0\u30ca\u30eb\u300d\u306e\u4f1d\u9054\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1aWAGRO\u7279\u6709\u306e\u300c\u904e\u98df\uff08Hyperphagia\uff09\u300d\u3068\u300c\u65e9\u671f\u767a\u75c7\u306e\u80a5\u6e80\u300d\u3092\u5f15\u304d\u8d77\u3053\u3059\u6700\u5927\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08\u63a8\u5b9a\uff1a100\u4e07\u4eba\u306b1\u4eba\u4ee5\u4e0b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u6570:<\/strong> WAGR\u75c7\u5019\u7fa4\u81ea\u4f53\u306e\u767a\u751f\u983b\u5ea6\u304c\u7d0450\u4e07\u301c100\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002WAGRO\u75c7\u5019\u7fa4\u306f\u305d\u306e\u4e2d\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3042\u308a\u3001WAGR\u60a3\u8005\u306e\u3046\u3061\u7d0430%\u301c50%\u304cBDNF\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3092\u4f34\u3046WAGRO\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904e\u5c11\u8a3a\u65ad\u306e\u53ef\u80fd\u6027:<\/strong> \u4ee5\u524d\u306f\u67d3\u8272\u4f53\u691c\u67fb\u306e\u89e3\u50cf\u5ea6\u304c\u4f4e\u304f\u3001<em>BDNF<\/em>\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u306a\u6b20\u5931\u304c\u898b\u9003\u3055\u308c\u3066\u3044\u305f\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8fd1\u5e74\u6b63\u78ba\u306a\u5206\u985e\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>WAGRO\u75c7\u5019\u7fa4\u306f\u3001\u5168\u8eab\u306e\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u8907\u96d1\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. W\uff1a\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d (Wilms tumor)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6982\u8981:<\/strong> \u814e\u81d3\u306b\u767a\u751f\u3059\u308b\u5c0f\u5150\u304c\u3093\u306e\u4e00\u7a2e\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30b9\u30af:<\/strong> WAGRO\u60a3\u8005\u306e\u7d04\u534a\u6570\uff0845\u301c60%\uff09\u304c8\u6b73\u307e\u3067\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u4e00\u822c\u7684\u306a\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3088\u308a\u3082\u767a\u75c7\u5e74\u9f62\u304c\u82e5\u304f\u3001\u4e21\u5074\u306e\u814e\u81d3\u306b\u767a\u751f\u3059\u308b\uff08\u4e21\u5074\u6027\uff09\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. A\uff1a\u7121\u8679\u5f69\u75c7 (Aniridia)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6982\u8981:<\/strong> \u76ee\u306e\u300c\u8336\u76ee\u300d\u306e\u90e8\u5206\uff08\u8679\u5f69\uff09\u304c\u90e8\u5206\u7684\u3001\u3042\u308b\u3044\u306f\u5b8c\u5168\u306b\u6b20\u640d\u3059\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u5f37\u3044\u307e\u3076\u3057\u3055\uff08\u7f9e\u660e\uff09\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u773c\u632f\uff08\u76ee\u304c\u63fa\u308c\u308b\uff09\u3001\u767d\u5185\u969c\u3001\u7dd1\u5185\u969c\u3092\u5408\u4f75\u3057\u3084\u3059\u304f\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u773c\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. G\uff1a\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38 (Genitourinary anomalies)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u5150:<\/strong> \u505c\u7559\u7cbe\u5de3\uff08\u7cbe\u5de3\u304c\u9670\u56a2\u5185\u306b\u306a\u3044\uff09\u3001\u5c3f\u9053\u4e0b\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u5973\u5150:<\/strong> \u53cc\u89d2\u5b50\u5bae\u3001\u5375\u5de3\u306e\u7b4b\u6761\u5316\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd:<\/strong> \u816b\u760d\u3068\u306f\u5225\u306b\u3001\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09\u3084\u30bf\u30f3\u30d1\u30af\u5c3f\u306a\u3069\u306e\u814e\u6a5f\u80fd\u4e0d\u5168\u3092\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. R\uff1a\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede (Range of developmental delays)<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a8d\u77e5\u9762:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u77e5\u7684\u969c\u5bb3\u3092\u8a8d\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762:<\/strong> \u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u4f75\u767a\u983b\u5ea6\u304c\u9ad8\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. O\uff1a\u80a5\u6e80 (Obesity) \u2014 WAGRO\u7279\u6709\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u591a\u304f\u306e\u5834\u5408\u300110\u6b73\u672a\u6e80\uff08\u65e9\u3051\u308c\u30702\u301c3\u6b73\uff09\u304b\u3089\u6025\u6fc0\u306a\u4f53\u91cd\u5897\u52a0\u304c\u59cb\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0:<\/strong> <em>BDNF<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u6e80\u8179\u4e2d\u67a2\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u307e\u305b\u3093\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5e38\u306b\u5f37\u3044\u7a7a\u8179\u611f\u3092\u611f\u3058\u308b\u300c\u904e\u98df\u75c7\uff08Hyperphagia\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7:<\/strong> \u82e5\u5e74\u671f\u304b\u3089\u306e\u7cd6\u5c3f\u75c5\u3001\u9ad8\u8102\u8840\u75c7\u3001\u8102\u80aa\u809d\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\u306e\u30ea\u30b9\u30af\u304c\u975e\u5e38\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>11p13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong><\/p>\n\n\n\n<p>WAGRO\u75c7\u5019\u7fa4\u306f\u3001\u907a\u4f1d\u5b50\u306e\u300c\u66f8\u304d\u63db\u3048\u300d\u3067\u306f\u306a\u304f\u3001\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u300c\u7269\u7406\u7684\u306b\u5931\u308f\u308c\u308b\uff08\u6b20\u5931\uff09\u300d\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570 (De novo): \u7d0490%<br>\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u306e\u521d\u671f\u5206\u88c2\u306e\u969b\u306b\u5076\u7136\u306b\u751f\u3058\u305f\u5fae\u5c0f\u6b20\u5931\u3067\u3059\u3002\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u4e88\u9632\u3067\u304d\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u4e0d\u5747\u8861\u8ee2\u5ea7\u306e\u7d99\u627f:<br>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5165\u308c\u66ff\u308f\u308a\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u308c\u304c\u4e0d\u5747\u8861\u306a\u5f62\u3067\u5b50\u306b\u53d7\u3051\u7d99\u304c\u308c\u3001\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30cf\u30d7\u30ed\u4e0d\u5168:<br>\u901a\u5e382\u672c\u3042\u308b\u306f\u305a\u306e11p13\u9818\u57df\u304c1\u672c\u5206\uff08\u7247\u89aa\u7531\u6765\u306e\u307f\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u91cf\u304c\u534a\u5206\u306b\u6e1b\u308a\u3001\u6b63\u5e38\u306a\u767a\u80b2\u304c\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u50cf\uff08\u7279\u306b\u7121\u8679\u5f69\u75c7\uff09\u304b\u3089\u7591\u3044\u3001\u9ad8\u7cbe\u5ea6\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA):<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300211p13\u9818\u57df\u306e\u3069\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u3092\u6570\u30ad\u30ed\u30d9\u30fc\u30b9\u5358\u4f4d\u3067\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002BDNF\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u8a3c\u660e\u3055\u308c\u308c\u3070\u3001WAGRO\u75c7\u5019\u7fa4\u3068\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08PAX6, WT1\u306a\u3069\uff09\u3092\u5149\u3089\u305b\u3066\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u753b\u50cf\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<br>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u3001\u8a3a\u65ad\u76f4\u5f8c\u304b\u3089\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u7684\u8a3a\u5bdf:<br>\u30b9\u30ea\u30c3\u30c8\u30e9\u30f3\u30d7\u691c\u67fb\u7b49\u306b\u3088\u308b\u7121\u8679\u5f69\u75c7\u304a\u3088\u3073\u5408\u4f75\u75c7\uff08\u7dd1\u5185\u969c\u7b49\uff09\u306e\u8a55\u4fa1\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3059\u308b\u300c\u5305\u62ec\u7684\u30b1\u30a2\u300d\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong> 8\u6b73\u306b\u306a\u308b\u307e\u3067\u300c3\u30f6\u6708\u306b\u4e00\u5ea6\u300d\u306e\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u4e16\u754c\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3067\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u304c\u3093\u6cbb\u7642:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u5916\u79d1\u624b\u8853\u3001\u5316\u5b66\u7642\u6cd5\u3001\u653e\u5c04\u7dda\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u6642\u306e\u751f\u5b58\u7387\u306f\u975e\u5e38\u306b\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u773c\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30b5\u30dd\u30fc\u30c8:<\/strong> \u906e\u5149\u773c\u93e1\uff08\u30b5\u30f3\u30b0\u30e9\u30b9\uff09\u306b\u3088\u308b\u7f9e\u660e\u306e\u7de9\u548c\u3002\u7dd1\u5185\u969c\u3084\u767d\u5185\u969c\u3078\u306e\u70b9\u773c\u30fb\u624b\u8853\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u819c\u4fdd\u8b77:<\/strong> \u89d2\u819c\u306e\u4e0d\u900f\u660e\u5316\u3092\u9632\u3050\u305f\u3081\u306e\u9069\u5207\u306a\u70b9\u773c\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u80a5\u6e80\u3068\u904e\u98df\u306e\u7ba1\u7406\uff08WAGRO\u7279\u6709\u306e\u8ab2\u984c\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> \u672c\u4eba\u306e\u610f\u601d\u3067\u98df\u6b32\u3092\u6291\u3048\u308b\u3053\u3068\u306f\u56f0\u96e3\uff08\u751f\u7269\u5b66\u7684\u306a\u7a7a\u8179\uff09\u306a\u305f\u3081\u3001\u98df\u3079\u7269\u3078\u306e\u7269\u7406\u7684\u306a\u30a2\u30af\u30bb\u30b9\u3092\u5236\u9650\u3059\u308b\u306a\u3069\u306e\u74b0\u5883\u4f5c\u308a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u6307\u5c0e:<\/strong> \u82e5\u5e74\u671f\u304b\u3089\u306e\u9ad8\u8840\u5727\u30fb\u7cd6\u5c3f\u75c5\u4e88\u9632\u306e\u305f\u3081\u306e\u98df\u4e8b\u7642\u6cd5\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6ccc\u5c3f\u751f\u6b96\u5668\u30fb\u814e\u6a5f\u80fd\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong> \u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u306b\u5bfe\u3059\u308b\u5f62\u6210\u8853\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u30e2\u30cb\u30bf\u30fc:<\/strong> \u30bf\u30f3\u30d1\u30af\u5c3f\u3084\u8840\u5727\u306e\u5b9a\u671f\u7684\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066ACE\u963b\u5bb3\u85ac\u306a\u3069\u3092\u4f7f\u7528\u3057\u814e\u81d3\u3092\u4fdd\u8b77\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u767a\u9054\u30fb\u884c\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3002\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u75c7\u7684\u7279\u6027\u306b\u5bfe\u3059\u308b\u6559\u80b2\u7684\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u547d\u4e88\u5f8c:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u3001\u304a\u3088\u3073\u6210\u4eba\u671f\u306b\u5411\u3051\u305f\u814e\u4e0d\u5168\u306e\u56de\u907f\u304cQOL\u3068\u5bff\u547d\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u4e88\u5f8c:<\/strong> \u9069\u5207\u306a\u773c\u79d1\u7ba1\u7406\u304c\u884c\u308f\u308c\u306a\u3044\u3068\u3001\u6210\u4eba\u671f\u306b\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u306b\u81f3\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u6e80\u306e\u4e88\u5f8c:<\/strong> \u65e9\u671f\u304b\u3089\u306e\u98df\u4e8b\u7ba1\u7406\u304c\u884c\u308f\u308c\u306a\u3044\u5834\u5408\u30012\u6b21\u7684\u306a\u4ee3\u8b1d\u6027\u75be\u60a3\uff08\u7cd6\u5c3f\u75c5\u306a\u3069\uff09\u304c\u5065\u5eb7\u4e0a\u306e\u5927\u304d\u306a\u8ca0\u62c5\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>WAGRO\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u8a2d\u8a08\u56f3\u304c\u8db3\u308a\u306a\u3044\u3053\u3068\u3067\u3001\u76ee\u3001\u814e\u81d3\u3001\u8133\u3001\u305d\u3057\u3066\u98df\u6b32\u306b\u95a2\u308f\u308b\u6a5f\u80fd\u306b\u5909\u5316\u304c\u751f\u3058\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u76ee\u306e\u8272\u304c\u901a\u5e38\u3068\u9055\u3046\uff08\u7121\u8679\u5f69\u75c7\uff09\u300d\u3053\u3068\u304b\u3089\u65e9\u671f\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6700\u3082\u5927\u5207\u306a\u306e\u306f\u3001\u814e\u81d3\u306e\u816b\u760d\u3092\u65e9\u304f\u898b\u3064\u3051\u308b\u305f\u3081\u306e\u300c3\u30f6\u6708\u306b\u4e00\u5ea6\u306e\u5b9a\u671f\u30a8\u30b3\u30fc\u300d\u3092\u6b20\u304b\u3055\u306a\u3044\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001WAGRO\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306f\u3001\u8133\u306e\u98df\u6b32\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304d\u306b\u304f\u3044\u6027\u8cea\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u672c\u4eba\u306e\u52aa\u529b\u3060\u3051\u3067\u98df\u3079\u308b\u91cf\u3092\u6211\u6162\u3059\u308b\u306e\u306f\u975e\u5e38\u306b\u56f0\u96e3\u3067\u3059\u3002\u3054\u5bb6\u65cf\u304c\u300c\u672c\u4eba\u306e\u308f\u304c\u307e\u307e\u300d\u3068\u6349\u3048\u305a\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5171\u306b\u74b0\u5883\u3092\u6574\u3048\u3066\u3042\u3052\u308b\u3053\u3068\u304c\u3001\u5c06\u6765\u306e\u5065\u5eb7\u3092\u5b88\u308b\u3053\u3068\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u65b9\u9762\u306e\u5c02\u9580\u5bb6\u3068\u7e4b\u304c\u308a\u3001\u304a\u5b50\u69d8\u306e\u500b\u6027\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\u306e\u8f2a\u3092\u4f5c\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Han, J. C., et al.<\/strong> (2008). <em>Brain-derived neurotrophic factor (BDNF) haploinsufficiency and &#8220;WAGRO&#8221; syndrome.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08BDNF\u6b20\u5931\u304cWAGR\u75c7\u5019\u7fa4\u306b\u80a5\u6e80\u3092\u4ed8\u3051\u52a0\u3048\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cargile, C. B., et al.<\/strong> (2002). <em>WAGR syndrome: a molecular genetic and clinical overview.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08WAGR\u306e\u5206\u5b50\u80cc\u666f\u3068\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fischbach, B. V., et al.<\/strong> (2005). <em>WAGR syndrome: a clinical review of 54 cases.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u591a\u6570\u306e\u75c7\u4f8b\u304b\u3089\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u5206\u6790\u3057\u305f\u91cd\u8981\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>WAGR Syndrome \/ 11p13 Deletion<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3084\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u983b\u5ea6\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>International WAGR Syndrome Association (IWSA)<\/strong>: <em>WAGRO Syndrome Clinical Resources<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4e16\u754c\u7684\u306a\u60a3\u8005\u56e3\u4f53\u306b\u3088\u308b\u3001\u6700\u65b0\u306e\u81e8\u5e8a\u60c5\u5831\u304a\u3088\u3073\u5bb6\u65cf\u5411\u3051\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Beckwith, J. B.<\/strong> (1998). <em>Wilms&#8217; tumor and other renal tumors of childhood.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u75c5\u614b\u3068\u6cbb\u7642\u306b\u95a2\u3059\u308b\u57fa\u790e\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17519","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17519","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17519\/revisions"}],"predecessor-version":[{"id":17521,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17519\/revisions\/17521"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17519"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}