{"id":5770,"date":"2020-08-28T09:09:00","date_gmt":"2020-08-28T00:09:00","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=5770"},"modified":"2026-03-05T12:29:19","modified_gmt":"2026-03-05T03:29:19","slug":"nephronophthisis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nephronophthisis\/","title":{"rendered":"\u30cd\u30d5\u30ed\u30f3\u7646\uff08Nephronophthisis\uff09 1 \u578b(\u6b20\u59312q13)\u3010\u533b\u5e2b\u76e3\u4fee\u3011"},"content":{"rendered":"\n<!--<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75c5\u614b<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">\u5c3f\u306e\u3067\u304d\u308b\u4ed5\u7d44\u307f<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-2\">\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u304a\u3051\u308b\u5c3f\u518d\u5438\u53ce\u969c\u5bb3<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-3\">\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c7\u72b6<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-4\">\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c5\u578b<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c2-1\">Nephrocystin-1<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-2\">\u305d\u306e\u4ed6\u306eNPHP\u907a\u4f1d\u5b50\u5909\u7570<\/a>\n\t\t\t\t\t<ul>\n\t\t\t\t\t\t<li><a href=\"#c2-2-1\">\u6f5c\u6027\u907a\u4f1d\u75be\u60a3<\/a><\/li>\n\t\t\t\t\t<\/ul>\n\t\t\t\t<\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c3\">\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75ab\u5b66<\/a><\/li>\n\t\t<li><a href=\"#c4\">\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8a3a\u65ad<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#4-1\">\u81e8\u5e8a\u6240\u898b<\/a><\/li>\n\t\t\t\t<li><a href=\"#c4-2\">\u814e\u7d44\u7e54\u6240\u898b<\/a><\/li>\n\t\t\t\t<li><a href=\"#c4-3\">\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a 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class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\uff08NPH\u3001Nephronophthisis\uff09\u3068\u306f\u3001\u814e\u9ac4\u8cea\u306b\u56a2\u80de\u5f62\u6210\u3092\u8a8d\u3081\u308b\u75be\u60a3\u306e\u4ee3\u8868\u3068\u3044\u3046\u8aac\u660e\u304c\u306a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3067\u306f\u3001\u814e\u9ac4\u8cea\u3068\u306f\u814e\u81d3\u3067\u4e00\u4f53\u3069\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u814e\u81d3\u306f\u5916\u5074\u306e\u76ae\u8cea\u3068\u305d\u306e\u5185\u5074\u306b\u3042\u308b\u9ac4\u8cea\u3001\u6700\u3082\u5185\u5074\u306e\u814e\u76c2\u304b\u3089\u6210\u308a\u307e\u3059\u3002\u76ae\u8cea\u306b\u306f\u8840\u6db2\u3092\u6ffe\u904e\u3057\u3066\u5c3f\u3092\u4f5c\u308b\u7cf8\u7403\u4f53\u304c\u591a\u6570\u5b58\u5728\u3057\u3001\u9ac4\u8cea\u306b\u306f\u7cf8\u7403\u4f53\u3067\u4f5c\u3089\u308c\u305f\u5c3f\u306e\u5143\u3068\u306a\u308b\u539f\u5c3f\u3092\u518d\u5438\u53ce\u3059\u308b\u5c3f\u7d30\u7ba1\u304c\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u5c3f\u7d30\u7ba1\u3092\u901a\u3063\u305f\u5c3f\u304c\u814e\u76c2\u306b\u9001\u3089\u308c\u307e\u3059\u3002\u7cf8\u7403\u4f53\u3067\u6ffe\u904e\u3055\u308c\u308b\u539f\u5c3f\u306f1\u65e5\u3067170\u30ea\u30c3\u30c8\u30eb\u3068\u3082\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u9ac4\u8cea\u306b\u3042\u308b\u5c3f\u7d30\u7ba1\u3067\u6c34\u5206\u3084\u30ca\u30c8\u30ea\u30a6\u30e0\u306a\u3069\u306e\u96fb\u89e3\u8cea\u304c\u6bdb\u7d30\u8840\u7ba1\u3078\u518d\u5438\u53ce\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u5c3f\u306e\u6fc3\u3055\u3084\u91cf\u304c\u8abf\u7bc0\u3055\u308c\u3001\u6700\u7d42\u7684\u306b\u306f1\u65e5\u306b1\uff0d2\u30ea\u30c3\u30c8\u30eb\u7a0b\u5ea6\u306e\u5c3f\u306e\u91cf\u304c\u51fa\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-2\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%86%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%B0%BF%E5%86%8D%E5%90%B8%E5%8F%8E%E9%9A%9C%E5%AE%B3\"><\/span>\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u304a\u3051\u308b\u5c3f\u518d\u5438\u53ce\u969c\u5bb3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u65b9\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u814e\u81d3\u3067\u306f\u3001\u5f8c\u307b\u3069\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u304c\u3001\u5c3f\u7d30\u7ba1\u306b\u5b58\u5728\u3059\u308b\u4e0a\u76ae\u7d30\u80de\u306e\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059<em>NPHP<\/em>\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308a\u3001\u5c3f\u7d30\u7ba1\u306b\u5c0f\u3055\u306a\u56a2\u80de\u304c\u3067\u304d\u305f\u308a\u3001\u5c3f\u7d30\u7ba1\u304c\u840e\u7e2e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u5c3f\u7d30\u7ba1\u3067\u306e\u518d\u5438\u53ce\u304c\u969c\u5bb3\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u308c\u306b\u3088\u308a\u3001\u5c3f\u304c\u6fc3\u7e2e\u3055\u308c\u305a\u591a\u5c3f\u306b\u306a\u3063\u305f\u308a\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u304c\u5c3f\u4e2d\u306b\u591a\u91cf\u306b\u6392\u51fa\u3055\u308c\u3066\u3057\u307e\u3046\u306e\u3067\u3001\u8840\u4e2d\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u304c\u4f4e\u4e0b\u3057\u3001\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u9ad8\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/10\/nephronophthisis02.jpg\" alt=\"\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75c5\u614b\" class=\"wp-image-44619\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-3\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%86%E3%81%AE%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6\"><\/span>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u4e0a\u3067\u8aac\u660e\u3057\u305f\u3088\u3046\u306a\u591a\u5c3f\u3068\u3001\u305d\u308c\u306b\u4f34\u3046\u591a\u98f2\u3084\u907a\u5c3f\uff08\u304a\u3082\u3089\u3057\uff09\u3001\u6162\u6027\u814e\u4e0d\u5168\u306b\u4f34\u3046\u6210\u9577\u767a\u80b2\u969c\u5bb3\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<br>\u5c3f\u7d30\u7ba1\u518d\u5438\u53ce\u969c\u5bb3\u306b\u3088\u308b\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u9ad8\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u306a\u3069\u306e\u96fb\u89e3\u8cea\u7570\u5e38\u3092\u8a8d\u3081\u307e\u3059\u304c\u3001\u521d\u671f\u306b\u306f\u6d6e\u816b\u3084\u8840\u5c3f\u3001\u86cb\u767d\u5c3f\u306a\u3069\u306e\u814e\u75c7\u72b6\u306f\u8a8d\u3081\u305a\u3001\u8840\u5727\u3082\u6b63\u5e38\u3067\u3059\u3002\u305d\u306e\u5f8c\u3001\u5c3f\u7d30\u7ba1\u306e\u840e\u7e2e\u304c\u9032\u3080\u3068\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u8d77\u3053\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u814e\u4e0d\u5168\u306b\u81f3\u308a\u307e\u3059\u3002\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u9032\u884c\u3057\u305f\u6bb5\u968e\u3067\u3001\u521d\u3081\u3066\u5c3f\u91cf\u304c\u6e1b\u5c11\u3057\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u306e\u8caf\u7559\u3068\u305d\u308c\u306b\u4f34\u3046\u9ad8\u8840\u5727\u3084\u8ca7\u8840\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>NPHP<\/em>\u306f\u814e\u81d3\u4ee5\u5916\u306b\u3082\u8133\u795e\u7d4c\u3092\u306f\u3058\u3081\u3068\u3057\u3066\u4ed6\u306e\u81d3\u5668\u306b\u3082\u5b58\u5728\u3057\u3066\u3044\u308b\u305f\u3081\u300110\uff5e20\uff05\u3067\u814e\u81d3\u4ee5\u5916\u306e\u75c7\u72b6\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08Senior-Loken\u75c7\u5019\u7fa4\uff09\u3001\u773c\u7403\u904b\u52d5\u306e\u5931\u8abf\uff08Cogan\u75c7\u5019\u7fa4\uff09\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\uff08Jourbert\u75c7\u5019\u7fa4\uff09\u3001\u809d\u7dda\u7dad\u75c7\u3001\u9aa8\u683c\u3084\u9854\u8c8c\u306e\u7570\u5e38\u3001\u7cbe\u795e\u767a\u9054\u9045\u6ede\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-4\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%86%E3%81%AE%E8%87%A8%E5%BA%8A%E7%97%85%E5%9E%8B\"><\/span>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c5\u578b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306f\u672b\u671f\u306e\u814e\u4e0d\u5168\u306b\u81f3\u308b\u307e\u3067\u306e\u6642\u671f\u306b\u3088\u3063\u3066\u81e8\u5e8a\u7684\u306b3\u3064\u306e\u75c5\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306f\u5e7c\u5c11\u671f\u304b\u3089\u5b66\u7ae5\u671f\u307e\u3067\u306b\u767a\u75c7\u3057\u3001\u5e73\u574713\uff5e14\u6b73\u3067\u672b\u671f\u814e\u4e0d\u5168\u306b\u79fb\u884c\u3057\u3001\u82e5\u5e74\u6027\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u30cd\u30d5\u30ed\u30f3\u76462\u578b\u306f\u4e73\u5150\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u3082\u547c\u3070\u308c\u3001\u5e7c\u5c11\u671f\u306e3\u20155\u6b73\u307e\u3067\u306b\u814e\u4e0d\u5168\u3068\u306a\u308a\u307e\u3059\u3002\u30cd\u30d5\u30ed\u30f3\u76463\u578b\u306f\u5e73\u574719\u6b73\u524d\u5f8c\u3067\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u308a\u3001\u601d\u6625\u671f\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u5f8c\u307b\u3069\u304a\u8a71\u3057\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306e3\u75c5\u578b\u306f\u7570\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/albright-2q37\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30aa\u30eb\u30d6\u30e9\u30a4\u30c8\u75c7\u5019\u7fa4\u69d8\u4e2d\u624b\u9aa8\u30fb\u4e2d\u8db3\u9aa8\u77ed\u7e2e(2q37.3\u6b20\u5931\u75c7\u5019\u7fa4) \u306b\u3064\u3044\u3066\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30aa\u30eb\u30d6\u30e9\u30a4\u30c8\u75c7\u5019\u7fa4\u69d8\u4e2d\u624b\u9aa8\u30fb\u4e2d\u811a\u77ed\u7e2e\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u640d\u3059\u308b\u4e8b\u3067\u3001\u4f53\u306e\u69d8\u3005\u306a\u7b87\u6240\u306b\u7570\u5e38\u304c\u73fe\u308c\u308b\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u5f53\u8a72\u75be\u60a3\u306e\u75c7\u4f8b\u5831\u544a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%861%E5%9E%8B%E3%81%AE%E8%B2%AC%E4%BB%BB%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"Nephrocystin-1\"><\/span>Nephrocystin-1<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u767a\u75c7\u306b\u95a2\u4e0e\u3059\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\u306f<em>NPHP<\/em>\u3068\u547c\u3070\u308c\u308b\u3082\u306e\u3067\u3001\u73fe\u5728\u307e\u3067\u306b20\u500b\u306b\u3082\u53ca\u3076\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u30b3\u30fc\u30c9\u3055\u308c\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u5c3f\u7d30\u7ba1\u4e0a\u76ae\u7d30\u80de\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u3067\u306f\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308a\u5c3f\u7d30\u7ba1\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u5c3f\u306e\u518d\u5438\u53ce\u304c\u3046\u307e\u304f\u884c\u308f\u308c\u306a\u3044\u3053\u3068\u306b\u3088\u3063\u3066\u814e\u81d3\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4e2d\u3067\u3082\u3001\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306f\u5c3f\u7d30\u7ba1\u4e0a\u76ae\u7d30\u80de\u306e\u4e00\u6b21\u7e4a\u6bdb\uff08primary cilia\uff09\u306b\u5b58\u5728\u3059\u308bnephrocystin-1\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b<em>NPHP1<\/em>\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u3066\u304a\u308a\u3001\u5e83\u7bc4\u56f2\u306a\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3084\u70b9\u5909\u7570\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<em>NPHP1<\/em>\u306f\u67d3\u8272\u4f53\u306e2q13\u4e0a\u306b\u5b58\u5728\u3057\u3001\u7d0411000\u5869\u57fa\u5bfe\u306e\u9577\u3055\u3067\u3042\u308a\u3001<em>NPHP1<\/em>\u907a\u4f1d\u5b50\u304b\u3089\u7ffb\u8a33\u3055\u308c\u5408\u6210\u3055\u308c\u308bnephrocystin-1\u306f677\u500b\u306e\u30a2\u30df\u30ce\u9178\u304b\u3089\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>nephrocystin-1\u306f\u7d30\u80de\u540c\u58eb\u3084\u3001\u7d30\u80de\u3068\u7d30\u80de\u5916\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u3068\u306e\u63a5\u7740\u3084\u60c5\u5831\u306e\u4f1d\u9054\u3092\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u5206\u5b50\u306b\u7570\u5e38\u3092\u751f\u3058\u308b\u3068\u7d30\u80de\u306e\u63a5\u7740\u3084\u7e4a\u6bdb\u306e\u6a5f\u80fd\u3001\u7d30\u80de\u5185\u5916\u306e\u60c5\u5831\u4f1d\u9054\u306b\u5927\u304d\u306a\u969c\u5bb3\u3092\u751f\u3058\u308b\u305f\u3081\u3001\u5c3f\u7d30\u7ba1\u4e0a\u76ae\u306e\u69cb\u9020\u7684\u30fb\u6a5f\u80fd\u7684\u969c\u5bb3\u3059\u306a\u308f\u3061\u3001\u5c3f\u7d30\u7ba1\u306b\u304a\u3051\u308b\u56a2\u80de\u5f62\u6210\u3084\u3001\u5c3f\u306e\u518d\u5438\u53ce\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AENPHP%E9%81%BA%E4%BC%9D%E5%AD%90%E5%A4%89%E7%95%B0\"><\/span>\u305d\u306e\u4ed6\u306eNPHP\u907a\u4f1d\u5b50\u5909\u7570<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u76462\u578b\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f53\u306e9q31\u306b\u5b58\u5728\u3059\u308b<em>NPHP2<\/em>\u3067\u3001inversin\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30cd\u30d5\u30ed\u30f3\u76463\u578b\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f53\u306e3q22\u306b\u4f4d\u7f6e\u3059\u308b<em>NPHP3<\/em>\u3067\u3001nephrocystin-3\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3044\u305a\u308c\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3082\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306enephrocystin-1\u3068\u540c\u69d8\u306b\u5c3f\u7d30\u7ba1\u4e0a\u76ae\u7d30\u80de\u3067\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u814e\u81d3\u306e\u6a5f\u80fd\u3092\u8457\u3057\u304f\u4f4e\u4e0b\u3055\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c2-2-1\"><span class=\"ez-toc-section\" id=\"%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E7%96%BE%E6%82%A3\"><\/span>\u6f5c\u6027\u907a\u4f1d\u75be\u60a3<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u3092\u542b\u3081\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u306f\u4e3b\u306b\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u540c\u3058\u90e8\u5206\u306b\u5909\u7570\u304c\u3042\u308b\u6f5c\u6027\u907a\u4f1d\u5b50\u3092\u6301\u3064\u4e21\u89aa\uff08\u767a\u75c7\u8005\u304b\u4fdd\u56e0\u8005\uff09\u306e\u9593\u306b\u5909\u7570\u304c2\u3064\u63c3\u3063\u305f\u5b50\u4f9b\u304c\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u3063\u305f\u5834\u5408\u306f\u3001\u4e21\u89aa\u306f\u5065\u5eb7\u3067\u3082\u5b50\u4f9b\u304c\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<br>\u307e\u305f\u3001\u983b\u5ea6\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u4ee5\u5916\u306b\u3082\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u5b64\u767a\u4f8b\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%86%E3%81%AE%E7%96%AB%E5%AD%A6\"><\/span>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75ab\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u767a\u75c7\u983b\u5ea6\u306b\u95a2\u3057\u3066\u65e5\u672c\u3067\u306f\u8a73\u7d30\u306a\u75ab\u5b66\u8abf\u67fb\u306f\u884c\u308f\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6d77\u5916\u3067\u306f\u6570\u4e07\u301c\u6570\u5341\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u5272\u5408\u3067\u3042\u308b\u3068\u3044\u3063\u305f\u5831\u544a\u304c\u306a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u306b\u304a\u3051\u308b\u60a3\u8005\u6570\u306f500\uff5e600\u4eba\u7a0b\u5ea6\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u95a2\u3057\u3066\u306f\u5c0f\u5150\u306e\u672b\u671f\u814e\u4e0d\u5168\u306e\u539f\u56e0\u306e5\u301c10\uff05\u3092\u5360\u3081\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<br>3\u3064\u306e\u81e8\u5e8a\u75c5\u578b\u306e\u4e2d\u3067\u306f\u82e5\u5e74\u6027\u30cd\u30d5\u30ed\u30f3\u7646\u3067\u3042\u308b\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u304c\u6700\u3082\u9ad8\u983b\u5ea6\u3068\u306a\u3063\u3066\u304a\u308a\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u5168\u4f53\u306e20\uff5e40\uff05\u306b<em>NPHP1<\/em>\u5909\u7570\u3092\u8a8d\u3081\u308b\u3068\u3044\u3063\u305f\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%861%E5%9E%8B%E3%81%AE%E8%A8%BA%E6%96%AD\"><\/span>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8a3a\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u3084\u81e8\u5e8a\u6240\u898b\u304b\u3089\u672c\u75be\u60a3\u3092\u7591\u3044\u3001\u7d44\u7e54\u5b66\u7684\u691c\u67fb\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u306a\u304c\u3089\u3001\u7dcf\u5408\u7684\u306b\u8a3a\u65ad\u3092\u884c\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u3001\u300c\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\u306e\u5e0c\u5c11\u96e3\u6cbb\u75be\u60a3\u7fa4\u306b\u95a2\u3059\u308b\u8a3a\u65ad\u57fa\u6e96\u30fb\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306e\u78ba\u7acb\u300d\u7814\u7a76\u73ed\u306b\u3088\u308a\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u8a3a\u65ad\u57fa\u6e96\u3082\u4f5c\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/saethre-chotzen-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30bb\u30fc\u30c8\u30ec\u30fb\u30d2\u30e7\u30c3\u30c4\u30a7\u30f3\u75c7\u5019\u7fa4\u3063\u3066\u306a\u306b\uff1fNIPT\u3067\u691c\u67fb\u3067\u304d\u308b\u306e\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u30da\u30fc\u30b8\u306f\u30bb\u30fc\u30c8\u30ec\u30fb\u30d2\u30e7\u30c3\u30c4\u30a7\u30f3\u75c7\u5019\u7fa4\uff08Saethre-Chotzen\u75c7\u5019\u7fa4\uff09\u306e\u77e5\u8b58\u3068\u5bfe\u7b56\u304c\u66f8\u3044\u3066\u3042\u308a\u307e\u3059\u3002\u30bb\u30fc\u30c8\u30ec\u30fb\u30d2\u30e7\u30c3\u30c4\u30a7\u30f3\u75c7\u5019\u7fa4\u306f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B\"><\/span>\u81e8\u5e8a\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u524d\u306b\u304a\u8a71\u3057\u305f\u3088\u3046\u306b\u3001\u5c0f\u5150\u671f\u306e\u591a\u98f2\u3001\u591a\u5c3f\u3001\u5c3f\u6fc3\u7e2e\u80fd\u4f4e\u4e0b\u3084\u814e\u6a5f\u80fd\u4f4e\u4e0b\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u3084\u691c\u67fb\u7d50\u679c\u306b\u3088\u308a\u672c\u75be\u60a3\u3092\u7591\u3044\u307e\u3059\u3002\u5c3f\u7d30\u7ba1\u306e\u518d\u5438\u53ce\u969c\u5bb3\u306b\u3088\u308b\u4f4e\u6bd4\u91cd\u5c3f\uff08\u8584\u3044\u5c3f\uff09\u306e\u51fa\u73fe\u983b\u5ea6\u306f\u9ad8\u304f\u3001\u3053\u3046\u3044\u3063\u305f\u6240\u898b\u3092\u8a8d\u3081\u308b\u5834\u5408\u306f\u30cd\u30d5\u30ed\u30f3\u7646\u3082\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u8a3a\u65ad\u3092\u9032\u3081\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<br>\u814e\u969c\u5bb3\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u5c3f\u30bf\u30f3\u30d1\u30af\u306e\u691c\u51fa\u306f\u4e00\u822c\u7684\u306b\u3088\u304f\u7528\u3044\u3089\u308c\u308b\u691c\u67fb\u6cd5\u3067\u3059\u304c\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u304a\u3051\u308b\u30bf\u30f3\u30d1\u30af\u5c3f\u306f\u03b22-microgloblin\u306a\u3069\u306e\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\u5c3f\u304c\u4e3b\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u5927\u304d\u3044\u5206\u5b50\u3067\u3042\u308b\u30a2\u30eb\u30d6\u30df\u30f3\u3092\u4e2d\u5fc3\u306b\u691c\u51fa\u3059\u308b\u8a66\u9a13\u7d19\u6cd5\u3067\u306f\u691c\u51fa\u3055\u308c\u306b\u304f\u3044\u306e\u3067\u3001\u5b66\u6821\u691c\u8a3a\u306a\u3069\u3092\u542b\u3081\u305f\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u843d\u3068\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\u306e\u4ed6\u306b\u5c3f\u7cd6\u3092\u8a8d\u3081\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u3001\u4f4e\u6bd4\u91cd\u5c3f\u3084\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\u5c3f\u306f\u78ba\u5b9a\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u6240\u898b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u305d\u306e\u4ed6\u306b\u306f\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u814e\u81d3\u306e\u8f1d\u5ea6\u306e\u4e0a\u6607\u3001\u76ae\u8cea\u3068\u9ac4\u8cea\u306e\u5883\u754c\u306e\u6d88\u5931\u3001\u814e\u5b9f\u8cea\u90e8\u306b\u5c0f\u56a2\u80de\u3092\u8a8d\u3081\u308b\u3053\u3068\u306a\u3069\u304c\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-2\"><span class=\"ez-toc-section\" id=\"%E8%85%8E%E7%B5%84%E7%B9%94%E6%89%80%E8%A6%8B\"><\/span>\u814e\u7d44\u7e54\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u814e\u81d3\u306e\u7d44\u7e54\u306f\u3001\u4e3b\u306b\u4f53\u5916\u304b\u3089\u91dd\u3092\u4f7f\u3063\u3066\u884c\u308f\u308c\u308b\u814e\u751f\u691c\u306b\u3088\u308a\u63a1\u53d6\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5c3f\u691c\u67fb\u3084\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u6bd4\u8f03\u3057\u3066\u4f53\u3078\u306e\u4fb5\u8972\u6027\u304c\u9ad8\u3044\u691c\u67fb\u3068\u8a00\u3048\u307e\u3059\u3002<br>\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u304a\u3051\u308b\u7d44\u7e54\u5b66\u7684\u306a\u7279\u5fb4\u306f\u3001\u76ae\u8cea\u3068\u9ac4\u8cea\u306e\u5883\u754c\u90e8\u5206\u306b\u3001\u56a2\u80de\u3092\u591a\u6570\u8a8d\u3081\u308b\u3053\u3068\u3067\u3059\u3002\u75c5\u72b6\u304c\u9032\u884c\u3059\u308b\u3068\u5c3f\u7d30\u7ba1\u306e\u840e\u7e2e\u3084\u3001\u5c3f\u7d30\u7ba1\u57fa\u5e95\u819c\u306e\u80a5\u539a\u3084\u840e\u7e2e\u306a\u3069\u3082\u8a8d\u3081\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u3055\u3089\u306b\u672b\u671f\u306b\u306a\u308b\u3068\u3001\u7cf8\u7403\u4f53\u5468\u56f2\u306e\u7dda\u7dad\u5316\u3084\u786c\u5316\u7cf8\u7403\u4f53\u304c\u51fa\u73fe\u3057\u3066\u304f\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u5c3f\u7d30\u7ba1\u306e\u56a2\u80de\u69d8\u62e1\u5f35\u3068\u3001\u5c3f\u7d30\u7ba1\u57fa\u5e95\u819c\u306e\u4e0d\u898f\u5247\u6027\u5909\u5316\u304c\u78ba\u5b9a\u8a3a\u65ad\u306b\u5fc5\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-3\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0a\u8a18\u306e\u3088\u3046\u306b\u81e8\u5e8a\u75c7\u72b6\u3084\u7d44\u7e54\u5b66\u7684\u306a\u6240\u898b\u304b\u3089\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u8a3a\u65ad\u306f\u3042\u308b\u7a0b\u5ea6\u7d5e\u308a\u8fbc\u3081\u308b\u3053\u3068\u3084\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u3067\u306f\u907a\u4f1d\u5b50\u5909\u7570\u306e\u540c\u5b9a\u7387\u304c\u7d0430\uff05\u3068\u305d\u308c\u307b\u3069\u9ad8\u304f\u306a\u3044\u70b9\u304b\u3089\u3001\u8a3a\u65ad\u306b\u5fc5\u9808\u306e\u691c\u67fb\u3068\u3044\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308c\u3070\u3001\u4f53\u306b\u4fb5\u8972\u306e\u3042\u308b\u814e\u751f\u691c\u3092\u884c\u308f\u306a\u3044\u3067\u3082\u8a3a\u65ad\u304c\u3067\u304d\u308b\u3053\u3068\u3084\u3001\u5909\u7570\u306e\u3042\u308b\u907a\u4f1d\u5b50\u306b\u7279\u5fb4\u7684\u306a\u5408\u4f75\u75c7\u3092\u65e9\u304f\u306b\u628a\u63e1\u3067\u304d\u308b\u3053\u3068\u306a\u3069\u306e\u30e1\u30ea\u30c3\u30c8\u304c\u3042\u308a\u307e\u3059\u3002<br>\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u3063\u305f\u5e74\u9f62\u3092\u8003\u616e\u3057\u3066\u3001<em>NPHP1<\/em>\uff08\u82e5\u5e74\u6027\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3082\u3057\u304f\u306f<em>NPHP2<\/em>\uff08\u4e73\u5150\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306e\u691c\u7d22\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3089\u308c\u306a\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u814e\u81d3\u4ee5\u5916\u306e\u75c7\u72b6\u3067\u3042\u308b\u7db2\u819c\u8272\u7d20\u75c5\u5909\uff08<em>NPHP5<\/em>\u3084<em>NPHP6<\/em>\u306e\u5909\u7570\u306b\u591a\u3044\uff09\u306a\u3069\u306e\u6709\u7121\u3092\u53c2\u8003\u306b\u3057\u306a\u304c\u3089\u3001\u4ed6\u306e<em>NPHP<\/em>\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u691c\u7d22\u3057\u3066\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u5168\u30b2\u30ce\u30e0\u306e\u3046\u3061\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u7ffb\u8a33\u3055\u308c\u308b\u30a8\u30af\u30bd\u30f3\u914d\u5217\u3092\u7db2\u7f85\u7684\u306b\u89e3\u6790\u3059\u308b\u624b\u6cd5\u3067\u3042\u308b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u8cac\u4efb\u907a\u4f1d\u5b50\u5909\u7570\u306e\u5831\u544a\u6570\u304c\u5897\u52a0\u3057\u3066\u304a\u308a\u300160\uff05\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u7570\u5e38\u3092\u691c\u51fa\u3067\u304d\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/10\/nephronophthisis01.jpg\" alt=\"\u907a\u4f1d\u5b50\u691c\u67fb\" class=\"wp-image-44623\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%861%E5%9E%8B%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u3092\u542b\u3081\u305f\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u6cbb\u7642\u306b\u3064\u3044\u3066\u306f\u3001\u6b8b\u5ff5\u306a\u304c\u3089\u73fe\u6bb5\u968e\u3067\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u5c3f\u7d30\u7ba1\u518d\u5438\u53ce\u969c\u5bb3\u306b\u3088\u3063\u3066\u751f\u3058\u305f\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u9ad8\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306b\u5bfe\u3057\u3066\u98df\u4e8b\u7642\u6cd5\u3084\u30a4\u30aa\u30f3\u5438\u7740\u6a39\u8102\u3001\u91cd\u70ad\u9178\u5869\u306e\u6295\u4e0e\u306a\u3069\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u9032\u884c\u3057\u3066\u672b\u671f\u814e\u4e0d\u5168\u306b\u81f3\u3063\u305f\u5834\u5408\u306f\u3001\u4eba\u5de5\u900f\u6790\u306a\u3069\u306b\u3088\u308b\u6cbb\u7642\u304c\u884c\u308f\u308c\u3001\u6700\u7d42\u7684\u306b\u306f\u814e\u79fb\u690d\u304c\u9078\u629e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u814e\u4e0d\u5168\u3092\u539f\u56e0\u3068\u3057\u305f\u4f4e\u8eab\u9577\u3092\u6765\u3057\u305f\u5834\u5408\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u3082\u9069\u5fdc\u306b\u306a\u308a\u307e\u3059\u3002<br>\u75c5\u6c17\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u306e\u4ed6\u306b\u3082\u3001\u672c\u75be\u60a3\u306e\u3088\u3046\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u306f\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u8ca0\u62c5\u3084\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u3082\u8003\u616e\u3055\u308c\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u76f8\u8ac7\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3088\u308a\u672c\u4eba\u3084\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3063\u3066\u3044\u304f\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n 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class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%95%E3%83%AD%E3%83%B3%E7%99%86%E3%81%A8%E3%83%92%E3%83%AD%E3%82%AF%E3%83%AA%E3%83%8B%E3%83%83%E3%82%AFNIPT%E3%81%AENIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD\"><\/span>\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306eNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad) <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/\">\u30c0\u30a6\u30f3\u75c7(21\u30c8\u30ea\u30bd\u30df\u30fc) <\/a>\u306e\u691c\u67fb\u306a\u3069\u306e\u67d3\u8272\u4f53\u306e\u7570\u6570\u4f53\u306e\u691c\u67fb\u3060\u3051\u3067\u306f\u308f\u304b\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT<\/a>\u3067\u306f\u30cd\u30d5\u30ed\u30f3\u7646\u3092\u542b\u3080\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3<\/a>\u3092\u691c\u67fb\u3059\u308b\u5168\u9818\u57df\u67d3\u8272\u4f53\u691c\u67fb\u306e\u691c\u67fb\u3082\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u308b\u524d\u306b\u308f\u304b\u308b\u3053\u3068\u3067\u8fce\u3048\u308b\u8d64\u3061\u3083\u3093\u306b\u3064\u3044\u3066\u3001\u5bb6\u65cf\u306f\u6e96\u5099\u3092\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3<\/a>\u3082\u691c\u67fb\u3067\u304d\u308b\u5168\u9818\u57df\u67d3\u8272\u4f53\u691c\u67fb\u3082\u662f\u975e\u691c\u8a0e\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75c5\u614b \u5c3f\u306e\u3067\u304d\u308b\u4ed5\u7d44\u307f \u30cd\u30d5&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nephronophthisis\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":5777,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[57,73],"class_list":["post-5770","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-down-syndrome","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/5770","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=5770"}],"version-history":[{"count":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/5770\/revisions"}],"predecessor-version":[{"id":125561,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/5770\/revisions\/125561"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/5777"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=5770"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=5770"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=5770"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}