{"id":17417,"date":"2026-01-22T03:52:55","date_gmt":"2026-01-22T03:52:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17417"},"modified":"2026-01-22T03:56:05","modified_gmt":"2026-01-22T03:56:05","slug":"polycystic-kidney-disease-infantile-severewith-tuberous-sclerosis-pkdts","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/polycystic-kidney-disease-infantile-severewith-tuberous-sclerosis-pkdts\/","title":{"rendered":"Polycystic kidney disease, infantile severe,with tuberous sclerosis (PKDTS)"},"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>TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff08TSC2\/PKD1 contiguous gene deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>PKDTS<\/strong><\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u4e73\u5150\u578b\u591a\u56a2\u80de\u6027\u814e\u75c7\u3092\u5408\u4f75\u3057\u305f\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1a\u7d50\u7bc0\u6027\u786c\u5316\u75c7 (Tuberous Sclerosis Complex; TSC)<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u591a\u56a2\u80de\u6027\u814e\u75c7 (ADPKD)<\/strong><\/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>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.3\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>PKDTS\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c16p13.3\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308b\u3001\u80cc\u4e2d\u5408\u308f\u305b\u306b\u96a3\u63a5\u3057\u305f2\u3064\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3001\u3072\u3068\u307e\u3068\u3081\u306b\u5931\u308f\u308c\u308b<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>TSC2\u907a\u4f1d\u5b50:<\/strong> \u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u7d30\u80de\u5897\u6b96\u3092\u5236\u5fa1\u3059\u308bmTOR\u30b7\u30b0\u30ca\u30eb\u306e\u6291\u5236\u56e0\u5b50\uff08\u30c4\u30d9\u30ea\u30f3\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>PKD1\u907a\u4f1d\u5b50:<\/strong> \u5e38\u67d3\u8272\u4f53\u9855\u6027\u591a\u56a2\u80de\u6027\u814e\u75c7\uff08ADPKD\uff09\u306e\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u5f62\u6210\u3092\u8abf\u7bc0\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u30dd\u30ea\u30b7\u30b9\u30c1\u30f31\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u308c\u30892\u3064\u306e\u907a\u4f1d\u5b50\u306f\u300116p13.3\u4e0a\u3067\u308f\u305a\u304b\u6570\u5341\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u8ddd\u96e2\u3067\u96a3\u63a5\u3057\u3066\u304a\u308a\u30015&#8217;\u7aef\u540c\u58eb\u304c\u975e\u5e38\u306b\u8fd1\u3044\u4f4d\u7f6e\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u3053\u306e\u9818\u57df\u3067<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u304c\u8d77\u3053\u308b\u3068\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u640d\u3057\u307e\u3059\u3002\u3053\u306e\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u300d\u306e\u7d50\u679c\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u5168\u8eab\u75c7\u72b6\uff08\u816b\u760d\u5f62\u6210\uff09\u3068\u3001ADPKD\u306e\u814e\u75c7\u72b6\u304c\u3001\u76f8\u4e57\u7684\u306b\u3001\u304b\u3064\u6975\u3081\u3066\u65e9\u671f\uff08\u80ce\u5150\u671f\uff5e\u4e73\u5150\u671f\uff09\u306b\u73fe\u308c\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\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\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u60a3\u8005\u306e\u7d042\u301c3%\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u7d50\u7bc0\u6027\u786c\u5316\u75c7\uff08TSC\uff09\u81ea\u4f53\u306e\u983b\u5ea6\u304c\u7d046,000\u4eba\u301c10,000\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067PKDTS\u306e\u75c5\u614b\u3092\u793a\u3059\u306e\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u50be\u5411:<\/strong> \u5358\u72ec\u306e\u591a\u56a2\u80de\u6027\u814e\u75c7\uff08ADPKD\uff09\u306f\u901a\u5e3830\u4ee3\u301c50\u4ee3\u3067\u767a\u75c7\u3057\u307e\u3059\u304c\u3001PKDTS\u306f\u4e73\u5e7c\u5150\u671f\u3001\u3042\u308b\u3044\u306f\u80ce\u5150\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5de8\u5927\u306a\u591a\u56a2\u80de\u814e\u304c\u767a\u898b\u3055\u308c\u308b\u305f\u3081\u3001\u5c0f\u5150\u79d1\u9818\u57df\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\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>PKDTS\u306f\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u5168\u8eab\u75c7\u72b6\u3068\u3001\u975e\u5e38\u306b\u91cd\u7be4\u306a\u591a\u56a2\u80de\u6027\u814e\u75c7\u306e\u75c7\u72b6\u304c\u4f75\u767a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u814e\u81d3\u306e\u75c7\u72b6\uff08Infantile severe PKD\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u6700\u3082\u9855\u8457\u304b\u3064\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u5927\u591a\u56a2\u80de\u814e:<\/strong> \u51fa\u751f\u6642\u3001\u3042\u308b\u3044\u306f\u80ce\u5150\u671f\u304b\u3089\u4e21\u5074\u306e\u814e\u81d3\u304c\u8457\u3057\u304f\u816b\u5927\u3057\u3001\u591a\u6570\u306e\u56a2\u80de\uff08\u6c34\u306e\u888b\uff09\u3067\u6e80\u305f\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u306e\u814e\u4e0d\u5168:<\/strong> \u901a\u5e38\u306eADPKD\u3068\u7570\u306a\u308a\u3001\u4e73\u5e7c\u5150\u671f\u306b\u6025\u901f\u306b\u814e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u9ad8\u8840\u5727:<\/strong> \u814e\u81d3\u306e\u816b\u5927\u3068\u56a2\u80de\u5f62\u6210\u306b\u4f34\u3044\u3001\u4e73\u5150\u671f\u304b\u3089\u5236\u5fa1\u56f0\u96e3\u306a\u9ad8\u8840\u5727\u3092\u6765\u3059\u3053\u3068\u304c\u591a\u304f\u3001\u5fc3\u8ca0\u8377\u3084\u8133\u51fa\u8840\u306e\u30ea\u30b9\u30af\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u81a8\u6e80:<\/strong> \u5de8\u5927\u5316\u3057\u305f\u814e\u81d3\u306b\u3088\u308a\u304a\u8179\u304c\u5927\u304d\u304f\u81a8\u3089\u307f\u3001\u547c\u5438\u4e0d\u5168\u3084\u54fa\u4e73\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7d50\u7bc0\u6027\u786c\u5316\u75c7 (TSC) \u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u5168\u8eab\u306e\u69d8\u3005\u306a\u81d3\u5668\u306b\u826f\u6027\u306e\u816b\u760d\uff08\u7d50\u7bc0\uff09\u304c\u5f62\u6210\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u75c5\u5909:<\/strong> \u76ae\u8cea\u7d50\u7bc0\uff08\u30c1\u30e5\u30d9\u30fc\u30eb\uff09\u3001\u4e0a\u8863\u4e0b\u5de8\u7d30\u80de\u6027\u661f\u7d30\u80de\u816b\uff08SEGA\uff09\u306a\u3069\u304c\u5f62\u6210\u3055\u308c\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u7279\u306b\u70b9\u982d\u3066\u3093\u304b\u3093\uff09\u3084\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u75c7\u72b6:<\/strong> \u767d\u6591\uff08\u6728\u306e\u8449\u72b6\u767d\u6591\uff09\u3001\u9854\u9762\u306e\u8840\u7ba1\u7dda\u7dad\u816b\u3001\u30b7\u30e3\u30b0\u30ea\u30f3\u30d1\u30c3\u30c1\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u75c5\u5909:<\/strong> \u5fc3\u6a2a\u7d0b\u7b4b\u816b\uff08\u80ce\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u767a\u898b\u3055\u308c\u3084\u3059\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u9000\u7e2e\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u4e0d\u6574\u8108\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u75c5\u5909:<\/strong> \u7db2\u819c\u904e\u8aa4\u816b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u8133\u75c5\u5909\u3084\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong> \u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306b\u95a2\u9023\u3057\u305f\u884c\u52d5\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\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>16p13.3\u306b\u304a\u3051\u308bTSC2\u304a\u3088\u3073PKD1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u30da\u30a2\u306e\u3046\u3061\u3001\u7247\u65b9\u306e\u67d3\u8272\u4f53\u3067\u96a3\u63a5\u3059\u308b2\u907a\u4f1d\u5b50\u304c\u6b20\u5931\uff08<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\uff09\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306f\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u53d7\u7cbe\u5375\u306e\u5f62\u6210\u904e\u7a0b\u3067\u5076\u7136\u306b<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u89aa\u304c\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u307f\u306e\u75c7\u72b6\u3092\u6301\u3064\u300c\u30e2\u30b6\u30a4\u30af\u300d\u72b6\u614b\u3067\u3042\u3063\u305f\u308a\u3001\u67d3\u8272\u4f53\u518d\u69cb\u6210\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u306b<em>PKD1<\/em>\u907a\u4f1d\u5b50\u304c1\u672c\u5206\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3001\u901a\u5e38\u306eADPKD\uff08\u907a\u4f1d\u5b50\u5185\u5909\u7570\uff09\u3088\u308a\u3082\u91cd\u75c7\u5316\u3059\u308b\u4e3b\u56e0\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>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u80ce\u5150\u671f\u30fb\u4e73\u5150\u671f\u306e\u753b\u50cf\u8a3a\u65ad\u3068\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u753b\u50cf\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\/MRI:<\/strong> \u4e21\u5074\u306e\u5de8\u5927\u306a\u591a\u56a2\u80de\u814e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u80ce\u5150\u671f\u306b\u300c\u8f1d\u5ea6\u304c\u9ad8\u3044\u5de8\u5927\u306a\u814e\u81d3\u300d\u3068\u3057\u3066\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> TSC\u7279\u6709\u306e\u8133\u75c5\u5909\uff08\u76ae\u8cea\u7d50\u7bc0\u306a\u3069\uff09\u3092\u691c\u7d22\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5fc3\u6a2a\u7d0b\u7b4b\u816b\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong> 16p13.3\u9818\u57df\u306e<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u6700\u3082\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<em>TSC2<\/em>\u3068<em>PKD1<\/em>\u306e\u4e21\u65b9\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MLPA\u6cd5:<\/strong> \u7279\u5b9a\u306e\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\uff08\u6b20\u5931\uff09\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3001\u8fc5\u901f\u306a\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u56fd\u969b\u8a3a\u65ad\u57fa\u6e96\u306b\u57fa\u3065\u304d\u3001\u76ae\u819a\u3001\u773c\u3001\u8133\u306a\u3069\u306e\u5168\u8eab\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8fd1\u5e74\u306e\u5206\u5b50\u6a19\u7684\u85ac\u306e\u767b\u5834\u306b\u3088\u308a\u3001\u7ba1\u7406\u65b9\u6cd5\u304c\u5287\u7684\u306b\u5909\u5316\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u814e\u75c7\u72b6\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u964d\u5727\u6cbb\u7642:<\/strong> ACE\u963b\u5bb3\u85ac\u3084ARB\u306a\u3069\u306e\u85ac\u5264\u3092\u7528\u3044\u3001\u53b3\u683c\u306a\u8840\u5727\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u4e0d\u5168\u6cbb\u7642:<\/strong> \u9032\u884c\u3057\u305f\u5834\u5408\u306f\u3001\u8179\u819c\u900f\u6790\u3084\u8840\u6db2\u900f\u6790\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6458\u51fa\u624b\u8853:<\/strong> \u814e\u81d3\u304c\u5de8\u5927\u5316\u3057\u3059\u304e\u3066\u547c\u5438\u3084\u6804\u990a\u6442\u53d6\u3092\u59a8\u3052\u308b\u5834\u5408\u3001\u3042\u308b\u3044\u306f\u96e3\u6cbb\u6027\u306e\u51fa\u8840\u3084\u611f\u67d3\u304c\u3042\u308b\u5834\u5408\u3001\u814e\u6458\u51fa\u8853\u3068\u305d\u308c\u306b\u7d9a\u304f\u900f\u6790\u30fb\u814e\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5206\u5b50\u6a19\u7684\u85ac\uff08mTOR\u963b\u5bb3\u85ac\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a8\u30d9\u30ed\u30ea\u30e0\u30b9\uff08\u30a2\u30d5\u30a3\u30cb\u30c8\u30fc\u30eb\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u640d\u3057\u305f<em>TSC2<\/em>\u306e\u6a5f\u80fd\u3092\u88dc\u3046\u3088\u3046\u306b\u3001\u904e\u5270\u306amTOR\u30b7\u30b0\u30ca\u30eb\u3092\u6291\u5236\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306eSEGA\u3084\u814e\u8840\u7ba1\u7b4b\u8102\u80aa\u816b\u306b\u5bfe\u3057\u3066\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001PKDTS\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3082\u3001\u5de8\u5927\u306a\u591a\u56a2\u80de\u814e\u306e\u5897\u5927\u6291\u5236\u3084\u3001\u9ad8\u8840\u5727\u306e\u6539\u5584\u306b\u52b9\u679c\u304c\u3042\u3063\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u5897\u3048\u3066\u304a\u308a\u3001\u65e9\u671f\u304b\u3089\u306e\u4f7f\u7528\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u30fb\u3066\u3093\u304b\u3093\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac:<\/strong> \u70b9\u982d\u3066\u3093\u304b\u3093\u306b\u5bfe\u3057\u3066\u306f\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\uff08\u30b5\u30d6\u30ea\u30eb\uff09\u3084ACTH\u7642\u6cd5\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong> \u65e9\u671f\u304b\u3089\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08PT\/OT\/ST\uff09\u3068\u3001\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u76ae\u819a\u30fb\u305d\u306e\u4ed6\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30fc\u30b6\u30fc\u6cbb\u7642\uff08\u8840\u7ba1\u7dda\u7dad\u816b\uff09\u3084\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30fb\u6b6f\u79d1\u691c\u8a3a\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>\u814e\u4e88\u5f8c:<\/strong> PKDTS\u306e\u4e88\u5f8c\u306f\u3001\u4e73\u5150\u671f\u306e\u814e\u6a5f\u80fd\u7ba1\u7406\u3068\u9ad8\u8840\u5727\u306e\u5236\u5fa1\u306b\u5f37\u304f\u4f9d\u5b58\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u300110\u4ee3\u307e\u3067\u306b\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u308a\u3001\u900f\u6790\u3084\u814e\u79fb\u690d\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u547d\u4e88\u5f8c:<\/strong> \u65e9\u671f\u306e\u5fc3\u4e0d\u5168\uff08\u5fc3\u6a2a\u7d0b\u7b4b\u816b\u306b\u3088\u308b\u4e0d\u6574\u8108\uff09\u3084\u3001\u8133\u306eSEGA\u306b\u3088\u308b\u6c34\u982d\u75c7\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u308c\u3070\u3001\u9577\u671f\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>QOL:<\/strong> \u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u5305\u62ec\u7684\u306a\u751f\u6d3b\u652f\u63f4\u304c\u5fc5\u8981\u306b\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>PKDTS\uff08\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u3092\u4f34\u3046\u91cd\u75c7\u4e73\u5150\u578b\u591a\u56a2\u80de\u6027\u814e\u75be\u60a3\uff09\u306f\u300116\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u5927\u5207\u306a2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u3001\u304a\u96a3\u3055\u3093\u540c\u58eb\u3067\u4e00\u7dd2\u306b\u5931\u308f\u308c\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u73cd\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5168\u8eab\u306b\u816b\u760d\u304c\u3067\u304d\u3084\u3059\u3044\uff08\u7d50\u7bc0\u6027\u786c\u5316\u75c7\uff09\u300d\u3068\u3044\u3046\u4f53\u8cea\u3068\u3001\u300c\u8d64\u3061\u3083\u3093\u306e\u6642\u304b\u3089\u814e\u81d3\u306b\u305f\u304f\u3055\u3093\u306e\u6c34\u306e\u888b\u304c\u3067\u304d\u308b\uff08\u591a\u56a2\u80de\u6027\u814e\u75c7\uff09\u300d\u3068\u3044\u30462\u3064\u306e\u75c5\u6c17\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u305f\u3081\u3001\u4e00\u822c\u7684\u306a\u30b1\u30fc\u30b9\u3088\u308a\u3082\u65e9\u671f\u304b\u3089\u306e\u5c02\u9580\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u304b\u3089\u306e\u8840\u5727\u7ba1\u7406\u3084\u814e\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u805e\u3044\u3066\u3001\u3054\u5bb6\u65cf\u306f\u5927\u304d\u306a\u4e0d\u5b89\u306b\u5305\u307e\u308c\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u306f\u300cmTOR\u963b\u5bb3\u85ac\u300d\u3068\u3044\u3046\u65b0\u3057\u3044\u304a\u85ac\u304c\u767b\u5834\u3057\u3001\u816b\u760d\u306e\u5897\u5927\u3092\u6291\u3048\u305f\u308a\u3001\u814e\u81d3\u306e\u72b6\u614b\u3092\u6539\u5584\u3057\u305f\u308a\u3059\u308b\u9053\u304c\u62d3\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u3001\u814e\u81d3\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u907a\u4f1d\u79d1\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u5168\u529b\u3067\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002\u6700\u65b0\u306e\u60c5\u5831\u3092\u5f97\u306a\u304c\u3089\u3001\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u6700\u5584\u306e\u30b1\u30a2\u3092\u4e00\u7dd2\u306b\u8003\u3048\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>Brook-Carter, P. T., et al.<\/strong> (1994). <em>Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease\u2014a contiguous gene syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08PKDTS\u304c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u4e16\u754c\u3067\u521d\u3081\u3066\u8a3c\u660e\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u539f\u5178\u3068\u306a\u308b\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Longa, L., et al.<\/strong> (2008). <em>TSC2\/PKD1 contiguous gene syndrome: Description of a series of 9 patients and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff089\u75c7\u4f8b\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u7d4c\u904e\u3068\u3001\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u5206\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Biava, A., et al.<\/strong> (2019). <em>Everolimus for renal manifestation of TSC2\/PKD1 contiguous gene syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08mTOR\u963b\u5bb3\u85ac\u30a8\u30d9\u30ed\u30ea\u30e0\u30b9\u304c\u3001PKDTS\u306e\u814e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u6709\u52b9\u3067\u3042\u3063\u305f\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u6700\u65b0\u306e\u81e8\u5e8a\u77e5\u898b\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Tuberous Sclerosis Complex<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u5168\u4f53\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002TSC2\/PKD1\u6b20\u5931\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3042\u308a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>16p13.3 microdeletions including TSC2 and PKD1<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u5b66\u4f1a<\/strong>: <em>\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u8a3a\u65ad\u57fa\u6e96\u304a\u3088\u3073\u6cbb\u7642\u6307\u91dd<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u56fd\u5185\u306e\u6a19\u6e96\u7684\u306a\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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-17417","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\/17417","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17417\/revisions"}],"predecessor-version":[{"id":17424,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17417\/revisions\/17424"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17417"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}