{"id":41850,"date":"2020-08-28T09:09:00","date_gmt":"2020-08-28T00:09:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nephronophthisis\/"},"modified":"2024-12-02T14:42:43","modified_gmt":"2024-12-02T05:42:43","slug":"nephronophthisis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nephronophthisis\/?lang=zh-hans","title":{"rendered":"\u80be\u75e8\uff08Nephronophthisis\uff09 1 \u578b(\u7f3a\u59312q13)\u3010\u533b\u751f\u76d1\u4fee\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u80be\u7ed3\u6838\u75c5\u7406\u5b66<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">\u5c3f\u6db2\u4ea7\u751f\u673a\u5236<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-2\">\u80be\u7ed3\u6838\u5c3f\u6db2\u91cd\u5438\u6536\u969c\u788d<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-3\">\u80be\u7ed3\u6838\u7684\u4e34\u5e8a\u75c7\u72b6<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-4\">\u80be\u7ed3\u6838\u7684\u4e34\u5e8a\u7c7b\u578b<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">1 \u578b\u80be\u5355\u4f4d\u53d1\u80b2\u4e0d\u5168\u7684\u76f8\u5173\u57fa\u56e0<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c2-1\">\u80be\u56ca\u7d20-1<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-2\">\u5176\u4ed6 NPHP \u57fa\u56e0\u7a81\u53d8<\/a>\n\t\t\t\t\t<ul>\n\t\t\t\t\t\t<li><a href=\"#c2-2-1\">\u9690\u6027\u9057\u4f20\u75c5<\/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\">\u80be\u75c5\u6d41\u884c\u75c5\u5b66<\/a><\/li>\n\t\t<li><a href=\"#c4\">1 \u578b\u80be\u7ed3\u6838\u7684\u8bca\u65ad<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#4-1\">\u4e34\u5e8a\u6240\u89c1<\/a><\/li>\n\t\t\t\t<li><a href=\"#c4-2\">\u80be\u7ec4\u7ec7\u6240\u89c1<\/a><\/li>\n\t\t\t\t<li><a href=\"#c4-3\">\u57fa\u56e0\u68c0\u6d4b<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c5\">1 \u578b\u80be\u7ed3\u6838\u7684\u6cbb\u7597<\/a><\/li>\n\t\t<li><a href=\"#c6\">\u672a\u6765\u7684\u6311\u6218<\/a><\/li>\n\t\t<li><a href=\"#c7\">Hiro Clinic NIPT\u7684\u80be\u75c5\u548cNIPT\uff08\u65b0\u4ea7\u524d\u8bca\u65ad\uff09<\/a><\/li>\n\t<\/ul>\n  <button class=\"toc_more\">\u6253\u5f00\u76ee\u5f55<\/button>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" 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class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u7646\u306b\u304a\u3051\u308b\u5c3f\u518d\u5438\u53ce\u969c\u5bb3\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A8%E6%98%AF%E5%B0%BF%E6%B6%B2%E7%9A%84%E5%86%8D%E5%90%B8%E6%94%B6%E5%8A%9F%E8%83%BD%E9%9A%9C%E7%A2%8D\"><\/span>\u80be\u75e8\u662f\u5c3f\u6db2\u7684\u518d\u5438\u6536\u529f\u80fd\u969c\u788d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u5173\u4e8e\u80be\u75e8\u7684\u80be\u810f\uff0c\u5c06\u5728\u540e\u9762\u8be6\u7ec6\u89e3\u91ca\uff0c\u7531\u4e8e\u5b58\u5728\u4e8e\u80be\u5c0f\u7ba1\u4e4b\u4e0a\u5bf9\u4e0a\u76ae\u7ec6\u80de\u8d77\u975e\u5e38\u91cd\u8981\u7684\u4f5c\u7528\u7684NPHP\u57fa\u56e0\u51fa\u73b0\u5f02\u5e38\uff0c\u5bfc\u81f4\u80be\u5c0f\u7ba1\u4e2d\u5f62\u6210\u5c0f\u56ca\u80bf\u548c\u80be\u5c0f\u7ba1\u840e\u7f29\uff0c\u5bfc\u81f4\u80be\u5c0f\u7ba1\u7684\u91cd\u5438\u6536\u529f\u80fd\u53d7\u635f\u3002\u56e0\u6b64\uff0c\u5c3f\u6db2\u6ca1\u6709\u7ecf\u8fc7\u6d53\u7f29\uff0c\u9ad8\u6d53\u5ea6\u7684\u94a0\u4ece\u5c3f\u4e2d\u6392\u51fa\uff0c\u5f15\u8d77\u8840\u6db2\u4e2d\u94a0\u6c34\u5e73\u4f4e\u4e0b\u548c\u4f4e\u94a0\u8840\u75c7\u53ca\u9ad8\u94be\u8840\u75c7\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c7\u72b6\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A8%E7%9A%84%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\"><\/span>\u80be\u75e8\u7684\u4e34\u5e8a\u8868\u73b0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80be\u75e8\u7684\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u4e0a\u8ff0\u7684\u591a\u5c3f\u75c7\uff0c\u5e76\u4f34\u6709\u591a\u996e\u548c\u9057\u5c3f\uff08\u6f0f\u5c3f\uff09\u3001\u4ee5\u53ca\u4e0e\u6162\u6027\u80be\u529f\u80fd\u8870\u7aed\u76f8\u5173\u7684\u751f\u957f\u53d1\u80b2\u969c\u788d\u7b49c\u3002<br>\u53ef\u89c2\u5bdf\u5230\u80be\u5c0f\u7ba1\u91cd\u5438\u6536\u969c\u788d\u5f15\u8d77\u7684\u4f4e\u94a0\u8840\u75c7\u3001\u9ad8\u94be\u8840\u75c7\u7b49\u7535\u89e3\u8d28\u5f02\u5e38\uff0c\u4f46\u65e9\u671f\u672a\u89c2\u5bdf\u5230\u6c34\u80bf\u3001\u8840\u5c3f\u3001\u86cb\u767d\u5c3f\u7b49\u80be\u810f\u75c7\u72b6\uff0c\u8840\u538b\u4e5f\u6b63\u5e38\u3002\u968f\u540e\uff0c\u80be\u5c0f\u7ba1\u840e\u7f29\uff0c\u5bfc\u81f4\u80be\u529f\u80fd\u6076\u5316\u5e76\u6700\u7ec8\u5bfc\u81f4\u80be\u8870\u7aed\u3002\u5f53\u80be\u529f\u80fd\u6076\u5316\u65f6\uff0c\u6700\u521d\u5c3f\u91cf\u51cf\u5c11\uff0c\u5bfc\u81f4\u94a0\u6f74\u7559\uff0c\u5e76\u4f34\u6709\u9ad8\u8840\u538b\u548c\u8d2b\u8840\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u8d23\u4efb\u57fa\u56e0<em>NPHP<\/em>\u8fd8\u5b58\u5728\u4e8e\u80be\u810f\u4ee5\u5916\u7684\u5305\u62ec\u8111\u795e\u7ecf\u5728\u5185\u7684\u5176\u4ed6\u5668\u5b98\uff0c\u56e0\u6b64\u572810\uff5e20\uff05\u7684\u75c5\u4f8b\u4e2d\u53ef\u80fd\u4f1a\u89c2\u5bdf\u5230\u80be\u810f\u4ee5\u5916\u7684\u75c7\u72b6\u3002\u5178\u578b\u75c7\u72b6\u5305\u62ec\u89c6\u7f51\u819c\u8272\u7d20\u53d8\u6027\u75c7\uff08Senior-Loken\u7efc\u5408\u75c7\uff09\u3001\u773c\u7403\u8fd0\u52a8\u5931\u8c03\uff08Cogan\u7efc\u5408\u75c7\uff09\u3001\u5c0f\u8111\u6027\u8fd0\u52a8\u5931\u8c03\uff08Jourbert\u7efc\u5408\u75c7\uff09\u3001\u809d\u7ea4\u7ef4\u75c7\u3001\u9aa8\u9abc\u548c\u9762\u90e8\u5f02\u5e38\u4ee5\u53ca\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u81e8\u5e8a\u75c5\u578b\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A8%E7%9A%84%E4%B8%B4%E5%BA%8A%E7%97%85%E5%9E%8B\"><\/span>\u80be\u75e8\u7684\u4e34\u5e8a\u75c5\u578b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636e\u53d1\u75c5\u65f6\u95f4\u76f4\u81f3\u7ec8\u672b\u671f\u80be\u8870\u7aed\uff0c\u4e34\u5e8a\u4e0a\u53ef\u5c06\u80be\u75e8\u5206\u4e3a3\u79cd\u7c7b\u578b\u3002\u80be\u75e81\u578b\u4ece\u513f\u7ae5\u671f\u53d1\u5c55\u5230\u5b66\u9f84\u671f\u53d1\u75c7\uff0c\u5e73\u5747\u572813-14\u5c81\u65f6\u53d1\u5c55\u5230\u7ec8\u672b\u671f\u80be\u8870\u7aed\uff0c\u4e5f\u88ab\u79f0\u4e3a\u9752\u5c11\u5e74\u80be\u75e8\u3002\u80be\u75e82\u578b\u53c8\u79f0\u5a74\u513f\u80be\u708e\uff0c\u5728\u513f\u7ae5\u65f6\u671f\u53d1\u75c5\uff0c\u52303-5\u5c81\u65f6\u51fa\u73b0\u80be\u529f\u80fd\u8870\u7aed\u3002\u80be\u75e83\u578b\u5728\u5e73\u574719\u5c81\u5de6\u53f3\u8fbe\u5230\u7ec8\u672b\u671f\u80be\u8870\u7aed\uff0c\u88ab\u79f0\u4e3a\u9752\u6625\u671f\u80be\u75e8\u3002\u6211\u4eec\u5c06\u5728\u540e\u9762\u8ba8\u8bba\uff0c\u8fd93\u79cd\u75c5\u5f62\u662f\u7531\u4e0d\u540c\u7684\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/albright-2q37\/?lang=zh-hans\" 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=\"%E8%82%BE%E7%97%A81%E5%9E%8B%E7%9A%84%E8%B4%A3%E4%BB%BB%E5%9F%BA%E5%9B%A0\"><\/span>\u80be\u75e81\u578b\u7684\u8d23\u4efb\u57fa\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"nephrocystin-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>\u5bfc\u81f4\u80be\u75e8\u53d1\u75c5\u7684\u57fa\u56e0\u88ab\u79f0\u4e3a<em>NPHP<\/em>\uff0c\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u62a5\u9053\u79f0\u5df2\u7ecf\u6709\u591a\u8fbe20\u4e2a\u57fa\u56e0\u88ab\u6d89\u53ca\u3002\u8fd9\u4e9b\u57fa\u56e0\u7f16\u7801\u7684\u86cb\u767d\u8d28\u5728\u80be\u5c0f\u7ba1\u4e0a\u76ae\u7ec6\u80de\u7684\u6b63\u5e38\u529f\u80fd\u4e2d\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528\uff0c\u5728\u80be\u75e8\u4e2d\uff0c\u57fa\u56e0\u7a81\u53d8\u4f1a\u5bfc\u81f4\u80be\u5c0f\u7ba1\u529f\u80fd\u969c\u788d\uff0c\u7531\u4e8e\u5c3f\u6db2\u91cd\u5438\u6536\u80fd\u529b\u5dee\u800c\u5bfc\u81f4\u4ee5\u80be\u810f\u4e3a\u4e3b\u7684\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u5176\u4e2d\uff0c\u80be\u75e81\u578b\u662f\u80be\u5c0f\u7ba1\u4e0a\u76ae\u7ec6\u80de\u7684\u521d\u7ea7\u7ea4\u6bdb\uff08primary cilia\uff09\u4e2d\u6709\u4e00\u79cd\u53eb\u505anephrocystin-1\u7684\u86cb\u767d\u8d28\uff0c\u5176\u7f16\u7801\u7684<em>NPHP1<\/em>\u57fa\u56e0\u53d1\u751f\u4e86\u53d8\u5f02\uff0c\u636e\u62a5\u9053\u79f0\u5b58\u5728\u5927\u8303\u56f4\u7684\u57fa\u56e0\u7f3a\u5931\u548c\u70b9\u53d8\u5f02\u3002<em>NPHP1<\/em>\u5b58\u5728\u4e8e\u67d3\u8272\u4f532q13\u4e0a\uff0c\u7ea611000\u76d0\u57fa\u5bf9\u7684\u957f\u5ea6\uff0c<em>NPHP1<\/em>\u8d1f\u8d23\u57fa\u56e0\u7ffb\u8bd1\u548c\u5408\u6210\u7684\uff0cnephrocystin-1\u7531677\u4e2a\u6c28\u57fa\u9178\u7ec4\u6210\u3002<\/p>\n\n\n\n<p>nephrocystin-1\u88ab\u8ba4\u4e3a\u662f\u7ec6\u80de\u95f4\u548c\u7ec6\u80de\u95f4\u57fa\u8d28\u7c98\u9644\u548c\u4fe1\u606f\u4f20\u9012\u7684\u91cd\u8981\u86cb\u767d\uff0c\u8fd9\u79cd\u5206\u5b50\u7684\u5f02\u5e38\u88ab\u8ba4\u4e3a\u4f1a\u5bfc\u81f4\u7ec6\u80de\u7c98\u9644\u3001\u7ea4\u6bdb\u529f\u80fd\u4ee5\u53ca\u7ec6\u80de\u5185\u5916\u4fe1\u606f\u7684\u91cd\u5927\u7d0a\u4e71\uff0c\u4ece\u800c\u5bfc\u81f4\u80be\u5c0f\u7ba1\u4e0a\u76ae\u7ec6\u80de\u7684\u7ed3\u6784\u548c\u529f\u80fd\u7d0a\u4e71\uff0c\u5373\u80be\u5c0f\u7ba1\u7684\u56ca\u80bf\u5f62\u6210\u548c\u5c3f\u6db2\u91cd\u5438\u6536\u53d7\u635f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u305d\u306e\u4ed6\u306enphp\u907a\u4f1d\u5b50\u5909\u7570\"><span class=\"ez-toc-section\" id=\"%E5%85%B6%E4%BB%96%E7%9A%84NPHP%E5%9F%BA%E5%9B%A0%E5%8F%98%E5%BC%82\"><\/span>\u5176\u4ed6\u7684NPHP\u57fa\u56e0\u53d8\u5f02<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80be\u75e82\u578b\u7684\u8d23\u4efb\u57fa\u56e0\u662f\u5c0a\u5728\u4e8e\u67d3\u8272\u4f539q31\u7684<em>NPHP2<\/em>\uff0c\u88ab\u79f0\u4e3ainversin\u7684\u7f16\u7801\u86cb\u767d\u8d28\u3002\u53e6\u5916\u3001\u80be\u75e83\u578b\u7684\u8d23\u4efb\u57fa\u56e0-\u4f4d\u4e8e\u67d3\u8272\u4f53\u76843q22\u7684\u4f4d\u7f6e\u7684<em>NPHP3<\/em>\uff0c\u88ab\u79f0\u4e3anephrocystin-3\u7684\u7f16\u7801\u86cb\u767d\u8d28\u3002\u8fd92\u79cd\u86cb\u767d\u4ee5\u53ca\u80be\u75e81\u578b\u7684nephrocystin-1\u540c\u6837\u5728\u80be\u5c0f\u7ba1\u4e0a\u76ae\u7ec6\u80de\u4e2d\u5177\u6709\u91cd\u8981\u7684\u529f\u80fd\uff0c\u800c\u57fa\u56e0\u7684\u7a81\u53d8\u4f1a\u4e25\u91cd\u635f\u5bb3\u80be\u810f\u529f\u80fd\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\">\u9690\u5f62\u9057\u4f20\u75be\u75c5<\/h4>\n\n\n\n<p>\u4f17\u6240\u5468\u77e5\uff0c\u5305\u62ec\u80be\u75e81\u578b\u5728\u5185\uff0c\u80be\u75e8\u4e3b\u8981\u662f\u9690\u6027\u9057\u4f20\u3002\u8fd9\u610f\u5473\u7740\uff0c\u6709\u540c\u4e00\u4e2a\u90e8\u5206\u7684\u53d8\u5f02\u9690\u6027\u57fa\u56e0\u7684\u7236\u6bcd\uff08\u53d1\u75c5\u8005\u6216\u643a\u5e26\u8005\uff09\u4e4b\u95f4\u96c6\u9f50\u4e862\u4e2a\u53d8\u5f02\u800c\u751f\u4e0b\u4e86\u5b69\u5b50\u7684\u53ef\u80fd\u6027\u5f88\u5927\u3002\u7236\u6bcd\u90fd\u662f\u643a\u5e26\u8005\u7684\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u90fd\u662f\u5065\u5eb7\u7684\u5b69\u5b50\u4e5f\u6709\u53ef\u80fd\u53d1\u75c5\u3002<br>\u53e6\u5916\uff0c\u867d\u7136\u53d1\u751f\u6982\u7387\u5f88\u5c0f\uff0c\u9690\u6027\u57fa\u56e0\u9057\u4f20\u4e4b\u5916\u4e5f\u5b58\u5728\u7a81\u7136\u53d8\u5f02\u7684\u4e2a\u522b\u6848\u4f8b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u7646\u306e\u75ab\u5b66\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A8%E7%9A%84%E7%96%AB%E5%AD%A6\"><\/span>\u80be\u75e8\u7684\u75ab\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5bf9\u4e8e\u80be\u75e8\u7684\u53d1\u75c5\u9891\u7387\u65e5\u672c\u867d\u7136\u6ca1\u6709\u8fdb\u884c\u8be6\u7ec6\u7684\u75ab\u5b66\u8c03\u67e5\uff0c\u4f46\u662f\u62a5\u544a\u79f0\u5728\u6d77\u5916\u6570\u4e07\u301c\u6570\u5341\u4e07\u4eba\u4e2d\u67091\u4eba\u7684\u7a0b\u5ea6\u3002\u5728\u65e5\u672c\u7684\u60a3\u8005\u6570\u4e3a500\uff5e600\u4eba\u7684\u7a0b\u5ea6\u3002\u53e6\u5916\uff0c\u5173\u4e8e\u80be\u75e8\u5c0f\u513f\u7684\u672b\u671f\u80be\u8870\u7aed\u7684\u539f\u56e0\u7ea6\u53605\u301c10\uff05\u3002<br>3\u4e2a\u4e34\u5e8a\u75c5\u578b\u4e4b\u4e2d\u9752\u5c11\u5e74\u6027\u80be\u75e8-\u80be\u75e81\u578b\u662f\u53d1\u751f\u9891\u7387\u6700\u9ad8\u7684\uff0c\u636e\u62a5\u544a\u79f0\u80be\u75e8\u7684\u5168\u4f5320\uff5e40\uff05\u662f<em>NPHP1<\/em>\u53d1\u751f\u4e86\u53d8\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u8a3a\u65ad\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A81%E5%9E%8B%E7%9A%84%E8%AF%8A%E6%96%AD\"><\/span>\u80be\u75e81\u578b\u7684\u8bca\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80be\u75e81\u578b\u7684\u8bca\u65ad\uff0c\u6839\u636e\u75c7\u72b6\u548c\u4e34\u5e8a\u53d1\u73b0\u5982\u679c\u6000\u7591\u8be5\u75c5\uff0c\u7ed3\u5408\u7ec4\u7ec7\u5b66\u68c0\u67e5\u548c\u57fa\u56e0\u68c0\u6d4b\uff0c\u5c31\u53ef\u4ee5\u8fdb\u884c\u7efc\u5408\u8bca\u65ad\u3002\u6700\u8fd1\u300c\u5efa\u7acb\u4e86\u80be\u810f\u548c\u6ccc\u5c3f\u7cfb\u7edf\u7f55\u89c1\u548c\u96be\u6cbb\u6027\u75be\u75c5\u7684\u8bca\u65ad\u6807\u51c6\u548c\u6cbb\u7597\u6307\u5357\u300d\u7814\u7a76\u5c0f\u7ec4\u4e5f\u5236\u5b9a\u4e86\u80be\u75e8\u7684\u8bca\u65ad\u6807\u51c6\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/saethre-chotzen-syndrome\/?lang=zh-hans\" 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<h4 class=\"wp-block-heading\" id=\"\u81e8\u5e8a\u6240\u898b\">\u4e34\u5e8a\u53d1\u73b0<\/h4>\n\n\n\n<p>\u5982\u524d\u6240\u8ff0\uff0c\u6839\u636e\u4e34\u5e8a\u75c7\u72b6\u548c\u5b9e\u9a8c\u5ba4\u7ed3\u679c\uff0c\u5982\u53d1\u73b0\u513f\u7ae5\u65f6\u671f\u7684\u591a\u996e\u3001\u591a\u5c3f\u3001\u5c3f\u6db2\u6d53\u7f29\u80fd\u529b\u4f4e\u4e0b\u548c\u80be\u529f\u80fd\u4f4e\u4e0b\u7b49\u4e34\u5e8a\u75c7\u72b6\uff0c\u53ef\u4ee5\u6000\u7591\u8be5\u75c5\u3002\u7531\u4e8e\u80be\u5c0f\u7ba1\u91cd\u5438\u6536\u969c\u788d\u5f15\u8d77\u7684\u4f4e\u6bd4\u91cd\u5c3f\uff08\u5c3f\u6db2\u7a00\u8584\uff09\u662f\u4e00\u4e2a\u5e38\u89c1\u7684\u53d1\u73b0\uff0c\u5f53\u89c2\u5bdf\u5230\u8fd9\u4e9b\u53d1\u73b0\u65f6\uff0c\u5e94\u8003\u8651\u5230\u80be\u75e8\u5e76\u4e14\u9700\u8981\u8fdb\u4e00\u6b65\u8bca\u65ad\u3002<br>\u68c0\u6d4b\u5c3f\u86cb\u767d\u662f\u5e38\u7528\u7684\u80be\u529f\u80fd\u635f\u5bb3\u7b5b\u67e5\u65b9\u6cd5\uff0c\u4f46\u80be\u75e8\u7684\u86cb\u767d\u5c3f\u4e3b\u8981\u662f\u03b22-microgloblin\u7b49\u4f4e\u5206\u5b50\u91cf\u7684\u86cb\u767d\u5c3f\uff0c\u7528\u4e3b\u8981\u68c0\u6d4b\u767d\u86cb\u767d\u8fd9\u79cd\u5927\u5206\u5b50\u7684\u8bd5\u7eb8\u65b9\u6cd5\u5f88\u96be\u68c0\u6d4b\u51fa\u6765\u3002\u5728\u5927\u89c4\u6a21\u7b5b\u67e5\u5982\u5b66\u6821\u68c0\u67e5\u4e2d\u53ef\u80fd\u88ab\u5ffd\u89c6\uff0c\u9700\u8981\u6ce8\u610f\u3002\u9664\u4e86\u4f4e\u5206\u5b50\u91cf\u86cb\u767d\u5916\uff0c\u8fd8\u53ef\u80fd\u51fa\u73b0\u5c3f\u7cd6\u3002\u6839\u636e\u8bca\u65ad\u6807\u51c6\uff0c\u4f4e\u6bd4\u91cd\u7684\u5c3f\u6db2\u548c\u4f4e\u5206\u5b50\u91cf\u7684\u86cb\u767d\u5c3f\u662f\u660e\u786e\u8bca\u65ad\u7684\u5fc5\u8981\u56e0\u7d20\u3002<br>\u5176\u4ed6\u7684\u7279\u5f81\u5982\uff0c\u8d85\u58f0\u68c0\u67e5\u53d1\u73b0\u5305\u62ec\u80be\u810f\u4eae\u5ea6\u589e\u52a0\uff0c\u76ae\u8d28\u548c\u9ad3\u8d28\u4e4b\u95f4\u7684\u8fb9\u754c\u6d88\u5931\uff0c\u4ee5\u53ca\u80be\u5b9e\u8d28\u4e2d\u5b58\u5728\u5c0f\u56ca\u80bf\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u814e\u7d44\u7e54\u6240\u898b\">\u80be\u7ec4\u7ec7\u53d1\u73b0<\/h4>\n\n\n\n<p>\u80be\u810f\u7ec4\u7ec7\uff0c\u4e3b\u8981\u662f\u901a\u8fc7\u7528\u9488\u8fdb\u884c\u7684\u80be\u810f\u6d3b\u68c0\u4ece\u4f53\u5916\u91c7\u96c6\u3002 \u8fd9\u4f7f\u5f97\u8be5\u68c0\u67e5\u6bd4\u5c3f\u68c0\u6216\u8d85\u58f0\u68c0\u67e5\u66f4\u5177\u4fb5\u5165\u6027\u3002<br>\u80be\u75e8\u7684\u7ec4\u7ec7\u5b66\u7279\u5f81\u662f\uff0c\u5728\u76ae\u8d28\u548c\u9ad3\u8d28\u7684\u4ea4\u754c\u5904\u5b58\u5728\u5927\u91cf\u56ca\u80bf\u3002\u968f\u7740\u75be\u75c5\u7684\u53d1\u5c55\uff0c\u80be\u5c0f\u7ba1\u840e\u7f29\uff0c\u80be\u5c0f\u7ba1\u57fa\u5e95\u819c\u589e\u539a\u548c\u840e\u7f29\uff0c\u5230\u4e86\u665a\u671f\uff0c\u80be\u5c0f\u7403\u5468\u56f4\u51fa\u73b0\u7ea4\u7ef4\u5316\u548c\u786c\u5316\u3002\u8bca\u65ad\u6807\u51c6\u8981\u6c42\u80be\u5c0f\u7ba1\u7684\u56ca\u72b6\u6269\u5f20\u548c\u80be\u5c0f\u7ba1\u57fa\u5e95\u819c\u7684\u4e0d\u89c4\u5219\u6539\u53d8\u624d\u80fd\u660e\u786e\u8bca\u65ad\u3002<\/p>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u907a\u4f1d\u5b50\u691c\u67fb\">\u57fa\u56e0\u68c0\u67e5<\/h4>\n\n\n\n<p>\u5982\u4e0a\u6240\u8ff0\uff0c\u4ece\u4e34\u5e8a\u75c7\u72b6\u548c\u7ec4\u7ec7\u5b66\u68c0\u67e5\u7ed3\u679c\u53ef\u4ee5\u5728\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u7f29\u5c0f\u80be\u75e8\u7684\u8bca\u65ad\u8303\u56f4\uff0c\u800c\u80be\u75e8\u57fa\u56e0\u7a81\u53d8\u7684\u9274\u5b9a\u7387\u5e76\u4e0d\u9ad8\u7ea6\u4e3a30%\uff0c\u6240\u4ee5\u5b83\u4e0d\u662f\u8bca\u65ad\u7684\u5fc5\u8981\u68c0\u67e5\uff0c\u57fa\u56e0\u68c0\u6d4b\u8bc6\u522b\u7a81\u53d8\u7684\u4f18\u52bf\u5305\u62ec\uff1a\u65e0\u9700\u5bf9\u8eab\u4f53\u8fdb\u884c\u6709\u521b\u7684\u80be\u810f\u6d3b\u68c0\u5c31\u80fd\u505a\u51fa\u8bca\u65ad\uff0c\u5e76\u80fd\u53ca\u65e9\u53d1\u73b0\u7a81\u53d8\u57fa\u56e0\u6240\u7279\u6709\u7684\u5e76\u53d1\u75c7\u3002<br>\u8003\u8651\u5230\u60a3\u8005\u51fa\u73b0\u7ec8\u672b\u671f\u80be\u8870\u7aed\u7684\u5e74\u9f84\uff0c\u8981\u5bfb\u627e<em>NPHP1<\/em>\uff08\u9752\u5c11\u5e74\u6027\u80be\u75e8\u7684\u8d23\u4efb\u57fa\u56e0\uff09\u6216<em>NPHP2<\/em>\uff08\u4e73\u513f\u80be\u75e8\u7684\u8d23\u4efb\u57fa\u56e0\uff09\u7684\u57fa\u56e0\u53d8\u5f02\u3002\u5982\u679c\u5728\u8fd9\u4e9b\u57fa\u56e0\u4e2d\u6ca1\u6709\u53d1\u73b0\u7a81\u53d8\uff0c\u5219\u53c2\u8003\u662f\u5426\u5b58\u5728\u80be\u810f\u4ee5\u5916\u7684\u75c7\u72b6\u5982\u7f51\u819c\u8272\u7d20\u75c5\u53d8\uff08<em>NPHP5<\/em>\u6216<em>NPHP6<\/em>\u7684\u53d8\u5f02\u8f83\u591a\uff09\uff0c\u641c\u7d22\u5176\u4ed6<em>NPHP<\/em>\u57fa\u56e0\u7a81\u53d8\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u5168\u5916\u663e\u5b50\u7ec4\u5206\u6790-\u4e00\u79cd\u5168\u9762\u5206\u6790\u6574\u4e2a\u57fa\u56e0\u7ec4\u4e2d\u7ffb\u8bd1\u6210\u86cb\u767d\u8d28\u7684\u5916\u663e\u5b50\u5e8f\u5217\u7684\u65b9\u6cd5\u5f97\u5230\u4e86\u5e94\u7528\uff0c\u5173\u4e8e\u8d23\u4efb\u57fa\u56e0\u7a81\u53d8\u7684\u62a5\u544a\u4e5f\u8d8a\u6765\u8d8a\u591a\uff0c\u62a5\u544a\u663e\u793a\u53ef\u4ee5\u68c0\u6d4b\u523060%\u4ee5\u4e0a\u7684\u57fa\u56e0\u5f02\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u30cd\u30d5\u30ed\u30f3\u76461\u578b\u306e\u6cbb\u7642\"><span class=\"ez-toc-section\" id=\"%E8%82%BE%E7%97%A81%E5%9E%8B%E7%9A%84%E6%B2%BB%E7%96%97\"><\/span>\u80be\u75e81\u578b\u7684\u6cbb\u7597<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9057\u61be\u7684\u662f\uff0c\u73b0\u9636\u6bb5\u8fd8\u6ca1\u6709\u5efa\u7acb\u8d77\u5305\u62ec\u80be\u75e81\u578b\u5728\u5185\u7684\u80be\u75e8\u7684\u6839\u672c\u7597\u6cd5\u3002\u5bf9\u4e8e\u80be\u5c0f\u7ba1\u91cd\u5438\u6536\u969c\u788d\u5f15\u8d77\u7684\u4f4e\u94a0\u8840\u75c7\u3001\u9ad8\u94be\u8840\u75c7\u548c\u4ee3\u8c22\u6027\u9178\u4e2d\u6bd2\uff0c\u53ef\u901a\u8fc7\u996e\u98df\u3001\u79bb\u5b50\u5438\u9644\u6811\u8102\u548c\u78b3\u9178\u6c22\u76d0\u7684\u65b9\u6cd5\u8fdb\u884c\u5bf9\u75c7\u6cbb\u7597\u3002\u5982\u679c\u75be\u75c5\u53d1\u5c55\u5230\u665a\u671f\u80be\u8870\u7aed\uff0c\u6cbb\u7597\u53ef\u80fd\u5305\u62ec\u900f\u6790\uff0c\u6700\u7ec8\u53ef\u80fd\u9009\u62e9\u80be\u810f\u79fb\u690d\u3002 \u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u4e5f\u9002\u7528\u4e8e\u7531\u80be\u8870\u7aed\u5f15\u8d77\u7684\u8eab\u6750\u77ee\u5c0f\u7684\u60c5\u51b5\u3002<br>\u9664\u4e86\u5bf9\u75be\u75c5\u7684\u6cbb\u7597\u5916\uff0c\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u4e3a\u75c5\u4eba\u548c\u5bb6\u5c5e\u63d0\u4f9b\u5fc3\u7406\u548c\u793e\u4f1a\u652f\u6301\u4e5f\u5f88\u91cd\u8981\uff0c\u56e0\u4e3a\u50cf\u8fd9\u79cd\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5fc5\u987b\u8003\u8651\u5230\u5bb6\u5ead\u7684\u5fc3\u7406\u8d1f\u62c5\u548c\u5bf9\u4eb2\u5c5e\u7684\u5f71\u54cd\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-risk\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u30ea\u30b9\u30af\u306f\u3042\u308b\u306e\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u8fd1\u5e74\u3001\u53d7\u691c\u3057\u3066\u3044\u308b\u4eba\u304c\u5897\u3048\u3066\u3044\u308bNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306e\u7279\u5fb4\u3084\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E4%BB%8A%E5%90%8E%E7%9A%84%E6%8C%91%E6%88%98\"><\/span>\u4eca\u540e\u7684\u6311\u6218<span 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