{"id":17515,"date":"2026-01-22T06:23:29","date_gmt":"2026-01-22T06:23:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17515"},"modified":"2026-01-22T06:23:29","modified_gmt":"2026-01-22T06:23:29","slug":"wagr-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/wagr-syndrome\/","title":{"rendered":"WAGR 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<\/strong><\/li>\n\n\n\n<li><strong>11p13\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u7121\u8679\u5f69\u75c7\u30fb\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>WAGRO\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u8fd1\u5e74\u3001\u80a5\u6e80\uff08Obesity\uff09\u3092\u4f34\u3046\u75c7\u4f8b\u304c\u591a\u3044\u3053\u3068\u304b\u3089\u3001\u305d\u306e\u982d\u6587\u5b57\u3092\u52a0\u3048\u305f\u547c\u79f0\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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<\/strong><\/p>\n\n\n\n<p>WAGR\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c13\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u304c\u3001\u3054\u304f\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u9818\u57df\u306b\u306f\u3001\u751f\u547d\u306e\u7dad\u6301\u3084\u4f53\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306e\u5178\u578b\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3001WAGR\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3092\u6c7a\u5b9a\u3065\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PAX6\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u773c\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u907a\u4f1d\u5b50\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a<strong>\u7121\u8679\u5f69\u75c7<\/strong>\uff08\u8679\u5f69\u304c\u6b20\u640d\u3059\u308b\u72b6\u614b\uff09\u3084\u3001\u767d\u5185\u969c\u3001\u7dd1\u5185\u969c\u306a\u3069\u306e\u773c\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>WT1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u767a\u9054\u304a\u3088\u3073\u816b\u760d\u306e\u6291\u5236\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a<strong>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d<\/strong>\uff08\u814e\u81d3\u306e\u304c\u3093\uff09\u306e\u767a\u75c7\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u3001<strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>BDNF\u907a\u4f1d\u5b50:<\/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\u306e\u6210\u9577\u3084\u98df\u6b32\u306e\u5236\u5fa1\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084\u3001\u904e\u98df\u306b\u3088\u308b<strong>\u80a5\u6e80<\/strong>\uff08WAGRO\u306e\u300cO\u300d\uff09\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\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>\u51fa\u751f\u5150 \u7d0450\u4e07\u4eba \u301c 100\u4e07\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5e0c\u5c11\u75be\u60a3\uff08\u30aa\u30fc\u30d5\u30a1\u30f3\u30c9\u30e9\u30c3\u30b0\u7b49\u306e\u5bfe\u8c61\uff09\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7121\u8679\u5f69\u75c7\u3068\u306e\u95a2\u9023:<\/strong> \u5358\u72ec\u306e\u300c\u7121\u8679\u5f69\u75c7\u300d\u306e\u60a3\u8005\u306e\u3046\u3061\u3001\u7d045\u301c10\u4eba\u306b1\u4eba\u304cWAGR\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>WAGR\u75c7\u5019\u7fa4\u306f\u3001\u305d\u306e\u540d\u524d\u306e\u7531\u6765\u3068\u306a\u3063\u305f4\u3064\u306e\u4e3b\u8981\u306a\u7279\u5fb4\uff08W\u3001A\u3001G\u3001R\uff09\u306b\u3001\u8fd1\u5e74\u306e\u77e5\u898b\u3067\u3042\u308b\u80a5\u6e80\uff08O\uff09\u3092\u52a0\u3048\u305f\u5e83\u7bc4\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. W\uff1aWilms tumor\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u82bd\u816b:<\/strong> \u5c0f\u5150\u671f\u306b\u767a\u751f\u3059\u308b\u814e\u81d3\u306e\u304c\u3093\u3067\u3059\u3002WAGR\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u7d0445\u301c60%\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u901a\u5e38\u30011\u6b73\u304b\u30893\u6b73\u306e\u9593\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u30018\u6b73\u9803\u307e\u3067\u306f\u9ad8\u3044\u30ea\u30b9\u30af\u304c\u7d9a\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u4e21\u5074\u306e\u814e\u81d3\u306b\u767a\u751f\u3059\u308b\u3053\u3068\uff08\u4e21\u5074\u6027\uff09\u3084\u3001\u518d\u767a\u306e\u30ea\u30b9\u30af\u304c\u4e00\u822c\u306e\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3088\u308a\u3082\u9ad8\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. A\uff1aAniridia\uff08\u7121\u8679\u5f69\u75c7\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8679\u5f69\u306e\u6b20\u640d:<\/strong> \u76ee\u306e\u300c\u8336\u76ee\u300d\u306e\u90e8\u5206\u3067\u3042\u308b\u8679\u5f69\u304c\u3001\u90e8\u5206\u7684\u307e\u305f\u306f\u5b8c\u5168\u306b\u6b20\u640d\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7:<\/strong> \u5f37\u3044\u307e\u3076\u3057\u3055\uff08\u7f9e\u660e\uff09\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u773c\u632f\u3001\u767d\u5185\u969c\u3001\u7dd1\u5185\u969c\u3001\u89d2\u819c\u30d1\u30f3\u30cc\u30b9\uff08\u89d2\u819c\u306e\u4e0d\u900f\u660e\u5316\uff09\u306a\u3069\u3092\u9ad8\u983b\u5ea6\u306b\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. G\uff1aGenitourinary anomalies\uff08\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\uff09<\/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\u964d\u308a\u3066\u3053\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\u3001\u5c0f\u3055\u306a\u5b50\u5bae\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd:<\/strong> \u6027\u5668\u306e\u7570\u5e38\u3060\u3051\u3067\u306a\u304f\u3001\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u814e\u4e0d\u5168\uff08\u6162\u6027\u814e\u81d3\u75c5\uff09\u306b\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. R\uff1aRange of developmental delays\uff08\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8a9e\u3001\u904b\u52d5\u3001\u793e\u4f1a\u6027\u306e\u3059\u3079\u3066\u306e\u9762\u3067\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3001\u5f37\u3044\u4e0d\u5b89\u611f\u306a\u3069\u306e\u884c\u52d5\u30fb\u7cbe\u795e\u7684\u306a\u8ab2\u984c\u3092\u4f75\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. O\uff1aObesity\uff08\u80a5\u6e80\uff1aWAGRO\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u98df:<\/strong> \u6e80\u8179\u611f\u3092\u611f\u3058\u306b\u304f\u3044\u3053\u3068\u306b\u3088\u308b\u7570\u5e38\u306a\u98df\u6b32\u304c\u898b\u3089\u308c\u3001\u5e7c\u5150\u671f\u304b\u3089\u6025\u6fc0\u306a\u4f53\u91cd\u5897\u52a0\uff08\u80a5\u6e80\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u524d\u8ff0\u306eBDNF\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3057\u3066\u3044\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\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<p>WAGR\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u65b9\u306e\u30da\u30a2\u306b\u304a\u3044\u3066\u300111p13\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09\uff1a\u7d0490%\u4ee5\u4e0a<br>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u80da\u767a\u751f\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u306f\u5076\u767a\u7684\u306a\u4e8b\u8c61\u3067\u3042\u308a\u3001\u89aa\u306e\u65e5\u5e38\u751f\u6d3b\u3084\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u7d99\u627f:<br>\u7a00\u306b\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u4e0d\u5747\u8861\u306a\u5f62\u3067\u53d7\u3051\u7d99\u304c\u308c\u300111p13\u9818\u57df\u306e\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30e2\u30b6\u30a4\u30af:<br>\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u4f53\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u304c\u6b20\u5931\u3092\u6301\u3064\u300c\u30e2\u30b6\u30a4\u30af\u578b\u300d\u306e\u75c7\u4f8b\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u5ea6\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\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\u7684\u306a\u7279\u5fb4\uff08\u7279\u306b\u7121\u8679\u5f69\u75c7\uff09\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\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\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300211p13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u3001PAX6\u3001WT1\u3001BDNF\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u3069\u306e\u7a0b\u5ea6\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>11p13\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb:<br>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u76f4\u5f8c\u304b\u3089\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u7684\u8a55\u4fa1:<br>\u7121\u8679\u5f69\u75c7\u306e\u7a0b\u5ea6\u3068\u3001\u7dd1\u5185\u969c\u3084\u767d\u5185\u969c\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u8a55\u4fa1\u3057\u307e\u3059\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\u4fee\u5fa9\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u304c\u3001\u65e9\u671f\u767a\u898b\u3068\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u5c02\u9580\u7684\u306a\u7ba1\u7406\u304c\u4e88\u5f8c\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u814e\u81d3\u306e\u7ba1\u7406\u3068\u816b\u760d\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u3001<strong>\u751f\u5f8c\u304b\u30898\u6b73\u9803\u307e\u3067\u30013\u30f6\u6708\u306b\u4e00\u5ea6\u306e\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb<\/strong>\u3092\u884c\u3046\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u816b\u760d\u6cbb\u7642:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u304c\u767a\u898b\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u5916\u79d1\u7684\u624b\u8853\u3001\u5316\u5b66\u7642\u6cd5\uff08\u6297\u304c\u3093\u5264\uff09\u3001\u5834\u5408\u306b\u3088\u308a\u653e\u5c04\u7dda\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3067\u304d\u308c\u3070\u3001\u6cbb\u7652\u7387\u306f\u975e\u5e38\u306b\u9ad8\u3044\u304c\u3093\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u306e\u4fdd\u8b77:<\/strong> \u814e\u4e0d\u5168\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u3001\u8840\u5727\u7ba1\u7406\u3084\u5c3f\u30bf\u30f3\u30d1\u30af\u306e\u30c1\u30a7\u30c3\u30af\u3001\u98df\u4e8b\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u773c\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u529b\u4fdd\u8b77:<\/strong> \u7f9e\u660e\uff08\u307e\u3076\u3057\u3055\uff09\u3092\u6291\u3048\u308b\u305f\u3081\u306e\u906e\u5149\u773c\u93e1\u3084\u30b3\u30f3\u30bf\u30af\u30c8\u30ec\u30f3\u30ba\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u6cbb\u7642:<\/strong> \u7dd1\u5185\u969c\u306b\u5bfe\u3059\u308b\u70b9\u773c\u85ac\u3084\u624b\u8853\u3001\u767d\u5185\u969c\u306b\u5bfe\u3059\u308b\u624b\u8853\u3002\u5b9a\u671f\u7684\u306a\u773c\u5727\u6e2c\u5b9a\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u767a\u9054\u3092\u4fc3\u9032\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4:<\/strong> \u8996\u899a\u969c\u5bb3\u3068\u77e5\u7684\u969c\u5bb3\u306e\u4e21\u9762\u3092\u8003\u616e\u3057\u305f\u6559\u80b2\u74b0\u5883\uff08\u8996\u899a\u652f\u63f4\u6559\u80b2\u306a\u3069\uff09\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u5206\u6ccc\u30fb\u884c\u52d5\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a5\u6e80\u7ba1\u7406:<\/strong> \u98df\u4e8b\u5236\u9650\u3084\u904b\u52d5\u7fd2\u6163\u306e\u78ba\u7acb\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong> \u884c\u52d5\u969c\u5bb3\u3084\u30d1\u30cb\u30c3\u30af\u3001\u4e0d\u5b89\u306b\u5bfe\u3059\u308b\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\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\u5b58\u7387:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u4e88\u5f8c:<\/strong> \u5408\u4f75\u3059\u308b\u7dd1\u5185\u969c\u3084\u89d2\u819c\u306e\u75c5\u5909\u304c\u8996\u529b\u306b\u5927\u304d\u304f\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u773c\u79d1\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9577\u671f\u7684\u306a\u5065\u5eb7:<\/strong> \u6210\u4eba\u671f\u306b\u304a\u3051\u308b\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09\u306e\u767a\u75c7\u306b\u6ce8\u610f\u3057\u3001\u8840\u5727\u3084\u814e\u6a5f\u80fd\u3092\u9577\u671f\u7684\u306b\u76e3\u8996\u3059\u308b\u5fc5\u8981\u304c\u3042\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>WAGR\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u3001\u76ee\u3084\u814e\u81d3\u3001\u8133\u306e\u767a\u9054\u3092\u53f8\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\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\u8d64\u3061\u3083\u3093\u306e\u6642\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5f8c\u306e\u6210\u9577\u904e\u7a0b\u3067\u300c\u814e\u81d3\u306e\u816b\u760d\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff09\u300d\u3084\u300c\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u300d\u306b\u5bfe\u3059\u308b\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u3066\u4e0d\u5b89\u306b\u306a\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306f3\u30f6\u6708\u306b\u4e00\u5ea6\u306e\u5b9a\u671f\u691c\u67fb\u3067\u65e9\u671f\u306b\u767a\u898b\u3067\u304d\u308c\u3070\u3001\u3057\u3063\u304b\u308a\u3068\u6cbb\u7642\u304c\u3067\u304d\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u773c\u79d1\u3001\u5c0f\u5150\u79d1\uff08\u816b\u760d\u30fb\u814e\u81d3\uff09\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u3001\u5c02\u9580\u306e\u5148\u751f\u65b9\u3068\u30c1\u30fc\u30e0\u3092\u4f5c\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u591a\u65b9\u9762\u304b\u3089\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u3066\u3001\u8996\u899a\u306e\u30b5\u30dd\u30fc\u30c8\u3084\u5b66\u7fd2\u306e\u5de5\u592b\u3092\u884c\u3044\u3001\u5065\u3084\u304b\u306a\u6bce\u65e5\u3092\u5171\u306b\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>Miller, R. W., Fraumeni, J. F., &amp; Manning, M. D.<\/strong> (1964). <em>Association of Wilms&#8217;s tumor with aniridia, hemihypertrophy and other congenital malformations.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3068\u7121\u8679\u5f69\u75c7\u306e\u95a2\u9023\u3092\u521d\u3081\u3066\u533b\u5b66\u7684\u306b\u793a\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Riccardi, V. M., et al.<\/strong> (1978). <em>The aniridia-Wilms tumor association: The critical role of chromosome band 11p13.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0811p13\u9818\u57df\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u7814\u7a76\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\u533b\u5b66\u7684\u77e5\u898b\u3001\u8a3a\u65ad\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u8a08\u753b\u3001\u7ba1\u7406\u6307\u91dd\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>WAGR Syndrome: A guide for families and medical professionals<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4e16\u754c\u6700\u5927\u306e\u60a3\u8005\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5b9f\u8df5\u7684\u306a\u751f\u6d3b\u30fb\u533b\u7642\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>National Organization for Rare Disorders (NORD)<\/strong>: <em>WAGR Syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u7dcf\u5408\u30dd\u30fc\u30bf\u30eb\u306b\u3088\u308b\u3001\u539f\u56e0\u3068\u6700\u65b0\u6cbb\u7642\u306e\u307e\u3068\u3081\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Han, J. C., et al.<\/strong> (2008). <em>Brain-derived neurotrophic factor (BDNF) haploinsufficiency and &#8220;WAGRO&#8221; syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u80a5\u6e80\uff08Obesity\uff09\u3068BDNF\u907a\u4f1d\u5b50\u306e\u95a2\u9023\u3092\u660e\u3089\u304b\u306b\u3057\u3001WAGRO\u306e\u6982\u5ff5\u3092\u63d0\u5531\u3057\u305f\u7814\u7a76\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-17515","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\/17515","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17515\/revisions"}],"predecessor-version":[{"id":17516,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17515\/revisions\/17516"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17515"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}