{"id":112016,"date":"2025-07-01T14:02:57","date_gmt":"2025-07-01T05:02:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/"},"modified":"2025-08-22T16:48:22","modified_gmt":"2025-08-22T07:48:22","slug":"smith-lemli-opitz-dhcr7-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans","title":{"rendered":"\u53f2\u5bc6\u65af-\u96f7\u59c6\u5229-\u5965\u76ae\u8328\u7efc\u5408\u75c7\uff08SLOS\uff09\u6982\u8ff0"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E7%AE%80%E6%98%93%E6%80%BB%E7%BB%93\" >\u7b80\u6613\u603b\u7ed3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F\" >\u907a\u4f1d\u5b50\u9818\u57df<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\" >\u4e3b\u8981\u75c7\u72b6<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%8E%9F%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F\" >\u9057\u4f20\u539f\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD\" >\u8bca\u65ad<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E7%AE%A1%E7%90%86%E4%B8%8E%E6%B2%BB%E7%96%97\" >\u7ba1\u7406\u4e0e\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2\" >\u9057\u4f20\u54a8\u8be2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/?lang=zh-hans\/#%E7%BB%93%E8%AE%BA\" >\u7ed3\u8bba<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E7%AE%80%E6%98%93%E6%80%BB%E7%BB%93\"><\/span> \u7b80\u6613\u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\n   \u53f2\u5bc6\u65af-\u96f7\u59c6\u5229-\u5965\u76ae\u8328\u7efc\u5408\u75c7\uff08SLOS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u7531\u4e8eDHCR7\u57fa\u56e0\u7684\u7f3a\u9677\u5bfc\u81f4\u4f53\u5185\u80c6\u56fa\u9187\u5408\u6210\u5f02\u5e38\u3002\u8fd9\u4e00\u7f3a\u9677\u5bfc\u81f4\u80c6\u56fa\u9187\u4e0d\u8db3\uff0c\u5e76\u4f7f7-\u8131\u6c22\u80c6\u56fa\u9187\uff087-DHC\uff09\u7b49\u4e2d\u95f4\u4ee3\u8c22\u7269\u5728\u4f53\u5185\u5f02\u5e38\u79ef\u7d2f\u3002\u80c6\u56fa\u9187\u5bf9\u5927\u8111\u53d1\u80b2\u3001\u8eab\u4f53\u751f\u957f\u548c\u6fc0\u7d20\u5408\u6210\u81f3\u5173\u91cd\u8981\uff0c\u5176\u4e0d\u8db3\u4f1a\u5bfc\u81f4\u4e00\u7cfb\u5217\u53d1\u80b2\u3001\u8eab\u4f53\u548c\u611f\u5b98\u5f02\u5e38\u3002\n\n  <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>DHCR7<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DHCR7-hgtIdeo_genome_asia_e0cb5_34d180-1024x26.png\" alt=\"DHCR7\" class=\"wp-image-102817\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u8981\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u957f\u4e0e\u53d1\u80b2\u8fdf\u7f13<\/strong>\uff1a\u51fa\u751f\u524d\u548c\u51fa\u751f\u540e\u7684\u751f\u957f\u4e0d\u826f\uff0c\u51fa\u751f\u4f53\u91cd\u4f4e\uff0c\u8eab\u9ad8\u77ee\u5c0f\u3002<br><\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u4e0e\u884c\u4e3a\u95ee\u9898<\/strong>\uff1a\u667a\u529b\u969c\u788d\uff0c\u4e2d\u5ea6\u5230\u91cd\u5ea6\u7684\u53d1\u80b2\u8fdf\u7f13\uff0c\u7c7b\u4f3c\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u7684\u884c\u4e3a\uff0c\u4ee5\u53ca\u5bf9\u523a\u6fc0\u7684\u654f\u611f\u6027\u3002<br><\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u5f02\u5e38<\/strong>\uff1a\u5c0f\u5934\u7578\u5f62\uff08\u5934\u56f4\u5c0f\uff09\uff0c\u9762\u90e8\u548c\u56db\u80a2\u7578\u5f62\uff0c\u5982\u5e76\u6307\uff08\u624b\u6307\u6216\u811a\u8dbe\u878d\u5408\uff09\u548c\u591a\u6307\uff08\u591a\u4f59\u7684\u624b\u6307\u6216\u811a\u8dbe\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u5fc3\u8840\u7ba1\u3001\u6ccc\u5c3f\u4e0e\u6d88\u5316\u7cfb\u7edf\u95ee\u9898<\/strong>\uff1a\u5fc3\u810f\u7f3a\u9677\uff0c\u5982\u623f\u95f4\u9694\u7f3a\u635f\uff08ASD\uff09\u3001\u5ba4\u95f4\u9694\u7f3a\u635f\uff08VSD\uff09\u548c\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\uff0c\u6d88\u5316\u7cfb\u7edf\u95ee\u9898\u5982\u54fa\u4e73\u56f0\u96be\u548c\u5e7d\u95e8\u72ed\u7a84\u3002<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%8E%9F%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F\"><\/span><strong>\u9057\u4f20\u539f\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u662f\u7531\u4f4d\u4e8e11\u53f7\u67d3\u8272\u4f53\u4e0a\u7684DHCR7\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\u3002\u4e3a\u4e86\u4f7f\u75be\u75c5\u8868\u73b0\u51fa\u6765\uff0c\u7236\u6bcd\u53cc\u65b9\u5fc5\u987b\u5206\u522b\u9057\u4f20\u4e00\u4e2a\u7a81\u53d8\u7684\u57fa\u56e0\uff08\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff09\u3002\u643a\u5e26\u4e00\u4e2a\u7a81\u53d8\u57fa\u56e0\u7684\u4eba\u662f\u643a\u5e26\u8005\uff0c\u4f46\u4e0d\u4f1a\u8868\u73b0\u51fa\u75c7\u72b6\u3002\u8be5\u75be\u75c5\u76f8\u5bf9\u7f55\u89c1\uff0c\u53d1\u751f\u7387\u4e3a\u6bcf20,000\u81f360,000\u4e2a\u65b0\u751f\u513f\u4e2d\u7ea61\u4f8b\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD\"><\/span><strong>\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8bca\u65ad\u57fa\u4e8e\u751f\u5316\u68c0\u6d4b\uff08\u6d4b\u91cf\u80c6\u56fa\u9187\u548c7-DHC\u6c34\u5e73\uff09\u548c\u5206\u5b50\u57fa\u56e0\u68c0\u6d4b\uff0c\u4ee5\u8bc6\u522bDHCR7\u57fa\u56e0\u4e2d\u7684\u7a81\u53d8\u3002\u5176\u4ed6\u8bca\u65ad\u65b9\u6cd5\u53ef\u80fd\u5305\u62ec\u6000\u5b55\u671f\u95f4\u7684\u8d85\u58f0\u68c0\u67e5\uff0c\u4ee5\u53d1\u73b0\u7578\u5f62\uff0c\u542c\u529b\u6d4b\u8bd5\u548c\u89c6\u529b\u7b5b\u67e5\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%A1%E7%90%86%E4%B8%8E%E6%B2%BB%E7%96%97\"><\/span><strong>\u7ba1\u7406\u4e0e\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5c3d\u7ba1\u76ee\u524d\u6ca1\u6709\u6cbb\u6108SLOS\u7684\u65b9\u6cd5\uff0c\u4f46\u5404\u79cd\u6cbb\u7597\u53ef\u4ee5\u5e2e\u52a9\u7ba1\u7406\u75c7\u72b6\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u80c6\u56fa\u9187\u8865\u5145\u6cbb\u7597<\/strong>\uff1a\u901a\u8fc7\u996e\u98df\u6216\u7279\u6b8a\u914d\u65b9\u8865\u5145\u80c6\u56fa\u9187\uff0c\u5e2e\u52a9\u6539\u5584\u751f\u957f\u5e76\u652f\u6301\u6fc0\u7d20\u5408\u6210\u3002<br><\/li>\n\n\n\n<li><strong>\u4ed6\u6c40\u7c7b\u836f\u7269\u6cbb\u7597<\/strong>\uff1a\u4f5c\u4e3a\u5b9e\u9a8c\u6027\u6cbb\u7597\uff0c\u65e8\u5728\u51cf\u5c11\u6709\u5bb3\u76847-DHC\u79ef\u7d2f\u3002<br><\/li>\n\n\n\n<li><strong>\u8425\u517b\u652f\u6301<\/strong>\uff1a\u5bf9\u4e8e\u6709\u54fa\u4e73\u56f0\u96be\u7684\u5a74\u513f\uff0c\u53ef\u4ee5\u4f7f\u7528\u9ad8\u70ed\u91cf\u914d\u65b9\u5976\u7c89\u548c\u5582\u98df\u7ba1\u3002<br><\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u62a4\u7406<\/strong>\uff1a\u76d1\u6d4b\u548c\u7ba1\u7406\u6fc0\u7d20\u6c34\u5e73\uff0c\u7279\u522b\u662f\u76ae\u8d28\u9187\u548c\u777e\u916e\u3002<br><\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u4e0e\u884c\u4e3a\u652f\u6301<\/strong>\uff1a\u901a\u8fc7\u65e9\u671f\u5e72\u9884\uff0c\u5982\u7269\u7406\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u548c\u804c\u4e1a\u6cbb\u7597\uff0c\u6765\u5904\u7406\u53d1\u80b2\u8fdf\u7f13\u548c\u884c\u4e3a\u95ee\u9898\u3002<br><\/li>\n<\/ol>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u9884\u540e\u56e0\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u800c\u5f02\u3002\u91cd\u75c7\u75c5\u4f8b\u53ef\u80fd\u4f1a\u5728\u5a74\u513f\u671f\u6b7b\u4ea1\uff0c\u800c\u8f7b\u75c7\u75c5\u4f8b\u5219\u53ef\u80fd\u5728\u9002\u5f53\u7684\u533b\u7597\u62a4\u7406\u4e0b\u5b9e\u73b0\u6b63\u5e38\u6216\u63a5\u8fd1\u6b63\u5e38\u7684\u53d1\u80b2\u3002\u65e9\u671f\u8bca\u65ad\u548c\u5e72\u9884\u53ef\u4ee5\u5ef6\u957f\u5bff\u547d\uff0c\u4f46\u957f\u671f\u7684\u7ed3\u679c\u4ecd\u5728\u7814\u7a76\u4e2d\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2\"><\/span><strong>\u9057\u4f20\u54a8\u8be2<\/strong><span 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