{"id":111737,"date":"2025-06-13T10:16:36","date_gmt":"2025-06-13T01:16:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/"},"modified":"2025-08-22T12:16:30","modified_gmt":"2025-08-22T03:16:30","slug":"primary-hyperoxaluria-type1-ph1-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans","title":{"rendered":"\u4e00\u6b21\u6027\u9ad8\u8349\u9178\u5c3f\u75c71\u578b\u3010AGXT\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\" >\u75c7\u72b6 | \u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E6%88%90%E4%BA%BA%E6%9C%9F%E7%97%87%E7%8A%B6\" >\u6210\u4eba\u671f\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E6%A3%80%E6%9F%A5%E9%A1%B9%E7%9B%AE\" >\u68c0\u67e5\u9879\u76ee<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E9%80%8F%E6%9E%90\" >\u900f\u6790<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E8%AF%8D%EF%BD%9CKeywords\" >\u5173\u952e\u8bcd\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\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_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<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>AGXT<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGXT-hgtIdeo_genome_fec2d_a80d90-1024x25.png\" alt=\"\" class=\"wp-image-101186\" style=\"width:840px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u672c\u9875\u9762\u5c06\u7b80\u5355\u660e\u4e86\u5730\u89e3\u91ca\u4e00\u6b21\u6027\u9ad8\u8349\u9178\u5c3f\u75c71\u578b\uff08Primary Hyperoxaluria Type 1\uff0cPH1\uff09\uff0c\u8fd9\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u9057\u4f20\u4ee3\u8c22\u6027\u75be\u75c5\u3002<\/p>\n\n\n\n<p>PH1\u662f\u7531\u4e8e\u809d\u810f\u9176\u7684\u529f\u80fd\u5929\u751f\u8f83\u5f31\uff0c\u5bfc\u81f4\u4f53\u5185\u4ea7\u751f\u5927\u91cf\u201c\u8349\u9178\u201d\u7269\u8d28\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u548c\u75be\u75c5\u7684\u8fdb\u5c55\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\uff0c\u53ef\u80fd\u5728\u5a74\u513f\u671f\u5c31\u51fa\u73b0\u4e25\u91cd\u7684\u80be\u810f\u635f\u4f24\uff0c\u4e5f\u6709\u53ef\u80fd\u76f4\u5230\u6210\u4eba\u624d\u88ab\u8bca\u65ad\u51fa\u6765\u3002<\/p>\n\n\n\n<p>\u672c\u9875\u9762\u5c06\u5c3d\u53ef\u80fd\u4ee5\u7b80\u5355\u800c\u7ec6\u81f4\u7684\u65b9\u5f0f\u603b\u7ed3PH1\u7684\u539f\u56e0\u3001\u75c7\u72b6\u3001\u68c0\u67e5\u65b9\u6cd5\u548c\u6cbb\u7597\u9009\u62e9\uff0c\u63d0\u4f9b\u4e13\u4e1a\u4fe1\u606f\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u7684\u5bb6\u4eba\u53ef\u80fd\u60a3\u6709PH1\uff0c\u6216\u8005\u7ecf\u5e38\u51fa\u73b0\u80be\u7ed3\u77f3\u7b49\u60c5\u51b5\uff0c\u8fd9\u5c06\u662f\u4e00\u4e2a\u91cd\u8981\u7684\u7ebf\u7d22\u3002<\/p>\n\n\n\n<p>\u9057\u4f20\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<br>AGXT<\/p>\n\n\n\n<p>\u76f8\u5173\u57fa\u56e0\uff1aAGXT\uff08\u4e19\u6c28\u9178-\u8349\u9170\u4e59\u9178\u6c28\u57fa\u8f6c\u79fb\u9176\uff1aAlanine\u2013glyoxylate aminotransferase\uff09<br>\u67d3\u8272\u4f53\u4f4d\u7f6e\uff1a\u7b2c2\u53f7\u67d3\u8272\u4f53\u957f\u81c237.3\u533a\uff082q37.3\uff09<br>HGNC ID\uff1aHGNC:341<br>\u86cb\u767d\u4ea7\u7269\uff1aAGT\u9176\uff08AGT\uff1aAlanine\u2013glyoxylate aminotransferase\uff09<br>\u4f4d\u7f6e\uff1a\u809d\u810f\u7684\u8fc7\u6c27\u5316\u7269\u9176\u4f53\uff08\u7ec6\u80de\u5185\u5206\u89e3\u6709\u5bb3\u7269\u8d28\u7684\u5730\u65b9\uff09<br>\u4e3b\u8981\u529f\u80fd\uff1a\u5c06\u8349\u9170\u4e59\u9178\uff08glyoxylate\uff09\u8f6c\u5316\u4e3a\u65e0\u5bb3\u7684\u6c28\u57fa\u9178\u4e4b\u4e00\u7518\u6c28\u9178\uff08glycine\uff09<\/p>\n\n\n\n<p>AGXT\u57fa\u56e0\u662f\u7528\u6765\u5236\u9020\u809d\u810f\u7ec6\u80de\u5185\u201c\u8fc7\u6c27\u5316\u7269\u9176\u4f53\u201d\u8fd9\u79cd\u5c0f\u7ed3\u6784\u4e2d\u7684AGT\u9176\u7684\u84dd\u56fe\u3002\u8fd9\u4e2a\u9176\u7684\u4f5c\u7528\u662f\u5c06\u4f53\u5185\u81ea\u7136\u751f\u6210\u7684\u8349\u9170\u4e59\u9178\u8f6c\u5316\u4e3a\u5bf9\u8eab\u4f53\u6709\u76ca\u7684\u7518\u6c28\u9178\u3002\u7136\u800c\uff0c\u5f53\u8fd9\u4e2a\u57fa\u56e0\u53d1\u751f\u5f02\u5e38\u65f6\uff0c\u8349\u9170\u4e59\u9178\u4e0d\u80fd\u88ab\u6b63\u786e\u5904\u7406\uff0c\u53cd\u800c\u8f6c\u5316\u4e3a\u6709\u5bb3\u7684\u201c\u8349\u9178\uff08oxalate\uff09\u201d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\"><\/span>\u75be\u75c5\u540d\u79f0 | \u75be\u75c5\u540d\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;\u4e00\u6b21\u6027\u9ad8\u8349\u9178\u5c3f\u75c71\u578b\uff08Primary Hyperoxaluria Type 1\uff0c\u7b80\u79f0PH1\uff09<\/p>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\u7531\u4e8e\u809d\u810f\u4ee3\u8c22\u9176\u76f8\u5173\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\u7684\u975e\u5e38\u7f55\u89c1\u7684\u5148\u5929\u6027\u4ee3\u8c22\u969c\u788d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%BF%B0\"><\/span>\u6982\u8ff0 | \u6982\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;\u4e00\u6b21\u6027\u9ad8\u8349\u9178\u5c3f\u75c71\u578b\uff08PH1\uff09\u662f\u5148\u5929\u6027\u975e\u5e38\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u5c5e\u4e8e\u4ee3\u8c22\u6027\u75be\u75c5\uff0c\u4f53\u5185\u201c\u8349\u9178\uff08oxalate\uff09\u201d\u8fd9\u79cd\u7269\u8d28\u5f02\u5e38\u8fc7\u91cf\u4ea7\u751f\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\uff0c\u809d\u810f\u901a\u8fc7\u9176AGT\u7684\u4f5c\u7528\u5c06\u8349\u9170\u4e59\u9178\uff08glyoxylate\uff09\u8f6c\u5316\u4e3a\u5b89\u5168\u7684\u7518\u6c28\u9178\u3002\u7136\u800c\uff0c\u5728PH1\u4e2d\uff0c\u7531\u4e8e\u9176\u7684\u529f\u80fd\u51cf\u5f31\u6216\u5b8c\u5168\u7f3a\u5931\uff0c\u8349\u9170\u4e59\u9178\u8fc7\u5ea6\u8f6c\u5316\u4e3a\u8349\u9178\u3002<\/p>\n\n\n\n<p>\u8349\u9178\u65e0\u6cd5\u5728\u4f53\u5185\u5206\u89e3\uff0c\u53ea\u80fd\u901a\u8fc7\u5c3f\u6db2\u4ece\u80be\u810f\u6392\u51fa\u3002\u56e0\u6b64\uff0c\u5269\u4f59\u7684\u8349\u9178\u4e0e\u9499\u7ed3\u5408\uff0c\u5f62\u6210\u201c\u8349\u9178\u9499\uff08calcium oxalate\uff09\u201d\u7ed3\u6676\u3002\u8fd9\u4f1a\u5bfc\u81f4\u80be\u7ed3\u77f3\u3001\u80be\u9499\u5316\uff08\u80be\u810f\u5185\u77f3\u7070\u6c89\u79ef\uff09\uff0c\u5982\u679c\u75c5\u60c5\u7ee7\u7eed\u53d1\u5c55\uff0c\u8349\u9178\u53ef\u80fd\u79ef\u7d2f\u5728\u5168\u8eab\u5404\u4e2a\u5668\u5b98\uff0c\u8fdb\u800c\u5f15\u53d1\u201c\u5168\u8eab\u6027\u8349\u9178\u75c7\uff08systemic oxalosis\uff09\u201d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span>\u6d41\u884c\u75c5\u5b66 | \u6d41\u884c\u75c5\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u00a0\u4f30\u8ba1\u53d1\u75c5\u7387\uff1a\u6bcf10\u4e07\u4eba\u4e2d\u7ea61\u4eba\uff0c\u81f3\u6bcf150\u4e07\u4eba\u4e2d\u7ea61\u4eba\uff08\u56e0\u5730\u57df\u5dee\u5f02\uff09<br>PH\u7c7b\u578b\u4e2dPH1\u5360\u7ea680%<br>\u53d1\u75c5\u8f83\u591a\u7684\u5730\u533a\uff1a\u5317\u975e\u3001\u4e2d\u4e1c\u3001\u52a0\u90a3\u5229\u7fa4\u5c9b\u7b49\uff08\u7531\u4e8e\u8fd1\u4eb2\u5a5a\u914d\u7b49\u9057\u4f20\u56e0\u7d20\uff09<br>\u90e8\u5206\u5730\u533a\uff0cPH1\u662f\u5c0f\u513f\u672b\u671f\u80be\u529f\u80fd\u8870\u7aed\uff08ESKD\uff1aEnd-stage kidney disease\uff09\u7684\u7ea610%\u539f\u56e0<br>PH1\u662f\u4e00\u79cd\u96be\u4ee5\u8bca\u65ad\u7684\u75be\u75c5\uff0c\u5c24\u5176\u662f\u6210\u4eba\u671f\u53d1\u75c5\u7684\u60a3\u8005\uff0c\u5e38\u5e38\u88ab\u8bef\u8bca\u4e3a\u5c3f\u8def\u7ed3\u77f3\u6216\u6162\u6027\u80be\u75c5\uff08CKD\uff09\uff0c\u56e0\u6b64\u5bb9\u6613\u88ab\u5ffd\u89c6\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_%E7%97%85%E5%9B%A0\"><\/span>\u75c5\u56e0 | \u75c5\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;PH1\u662f\u7531\u4e8eAGXT\u57fa\u56e0\u7684\u4e24\u4e2a\u62f7\u8d1d\uff08\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff09\u53d1\u751f\u75c5\u7406\u6027\u53d8\u5f02\u6240\u81f4\u3002<\/p>\n\n\n\n<p>\u622a\u81f3\u76ee\u524d\uff0c\u5df2\u7ecf\u62a5\u9053\u4e86200\u591a\u79cdAGXT\u57fa\u56e0\u7684\u75c5\u7406\u6027\u53d8\u5f02\uff0c\u5177\u4f53\u5305\u62ec\u4ee5\u4e0b\u51e0\u79cd\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9519\u4e49\u7a81\u53d8\uff08\u4ec5\u90e8\u5206\u9176\u88ab\u9519\u8bef\u5236\u9020\uff09<br><\/li>\n\n\n\n<li>\u65e0\u4e49\u7a81\u53d8\uff08\u9176\u5408\u6210\u4e2d\u9014\u505c\u6b62\uff09<br><\/li>\n\n\n\n<li>\u526a\u63a5\u4f4d\u70b9\u7a81\u53d8\uff08\u57fa\u56e0\u4fe1\u606f\u8fde\u63a5\u7684\u5f02\u5e38\uff09<br><\/li>\n\n\n\n<li>\u79fb\u7801\u7a81\u53d8\uff08\u57fa\u56e0\u5e8f\u5217\u7684\u8bfb\u53d6\u51fa\u73b0\u9519\u8bef\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u5e38\u89c1\u7684\u7a81\u53d8\u53ca\u7279\u70b9\uff1a<br>p.Gly170Arg\u7a81\u53d8\uff1a\u75c7\u72b6\u8f83\u8f7b\uff0c\u5bf9\u7ef4\u751f\u7d20B6\uff08\u5421\u54c6\u9187\uff09\u6709\u8f83\u5f3a\u53cd\u5e94<br>p.Phe152Ile\u7a81\u53d8\uff1a\u540c\u6837\u5bf9\u7ef4\u751f\u7d20B6\u6709\u53cd\u5e94<br>p.Ile244Thr\u7a81\u53d8\uff1a\u5728\u6469\u6d1b\u54e5\u548c\u52a0\u90a3\u5229\u7fa4\u5c9b\u4e2d\u8f83\u4e3a\u5e38\u89c1<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u7a81\u53d8\u4f1a\u5bfc\u81f4AGT\u9176\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e0\u6cd5\u6b63\u786e\u6298\u53e0<br><\/li>\n\n\n\n<li>\u65e0\u6cd5\u5230\u8fbe\u6b63\u786e\u7684\u4f4d\u7f6e\uff08\u8fc7\u6c27\u5316\u7269\u9176\u4f53\uff09<br><\/li>\n\n\n\n<li>\u4e0d\u7a33\u5b9a\uff0c\u5bb9\u6613\u88ab\u964d\u89e3<br><\/li>\n\n\n\n<li>\u5931\u53bb\u6d3b\u6027<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6 | \u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;PH1\u7684\u75c7\u72b6\u56e0\u5e74\u9f84\u548c\u75c5\u60c5\u8fdb\u5c55\u7a0b\u5ea6\u800c\u5f02\u3002<\/p>\n\n\n\n<p>\u5a74\u513f\u671f\u75c7\u72b6\uff08\u51fa\u751f12\u4e2a\u6708\u4ee5\u5185\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u957f\u53d1\u80b2\u4e0d\u826f\uff08\u4f53\u91cd\u4e0d\u589e\u52a0\uff0c\u7f3a\u4e4f\u6d3b\u529b\uff09<br><\/li>\n\n\n\n<li>\u80be\u810f\u9499\u5316\uff08\u80be\u810f\u5185\u77f3\u7070\u6c89\u79ef\uff09<br><\/li>\n\n\n\n<li>\u5feb\u901f\u8fdb\u5c55\u7684\u672b\u671f\u80be\u8870\u7aed\uff08ESKD\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u513f\u7ae5\u53ca\u9752\u6625\u671f\u75c7\u72b6<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53cd\u590d\u51fa\u73b0\u80be\u7ed3\u77f3<br><\/li>\n\n\n\n<li>\u8840\u5c3f\uff08\u5c3f\u4e2d\u5e26\u8840\uff09<br><\/li>\n\n\n\n<li>\u5c3f\u8def\u611f\u67d3<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E6%9C%9F%E7%97%87%E7%8A%B6\"><\/span>\u6210\u4eba\u671f\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53cd\u590d\u80be\u7ed3\u77f3\uff08\u6709\u65f6\u591a\u5e74\u672a\u8bca\u65ad\uff09<br><\/li>\n\n\n\n<li>\u6162\u6027\u80be\u810f\u75c5\uff08CKD\uff09\u8fdb\u5c55\u5230\u53d1\u73b0<br><\/li>\n\n\n\n<li>\u5168\u8eab\u6027\u8349\u9178\u75c7\uff08systemic oxalosis\uff09\u7684\u5f71\u54cd<br><\/li>\n\n\n\n<li>\u9aa8\uff1a\u9aa8\u8106\u6027\u3001\u9aa8\u6298\u3001\u751f\u957f\u8fdf\u7f13<br><\/li>\n\n\n\n<li>\u773c\u775b\uff1a\u89c6\u7f51\u819c\u7ea4\u7ef4\u5316\u3001\u89c6\u529b\u4e0b\u964d<br><\/li>\n\n\n\n<li>\u5fc3\u810f\uff1a\u5fc3\u808c\u75c5\u3001\u4e0d\u89c4\u5219\u5fc3\u8df3<br><\/li>\n\n\n\n<li>\u8840\u7ba1\u548c\u5916\u5468\u795e\u7ecf\uff1a\u574f\u75bd\u3001\u9ebb\u6728\u3001\u5faa\u73af\u4e0d\u826f<br><\/li>\n\n\n\n<li>\u9aa8\u9ad3\uff1a\u8840\u7403\u51cf\u5c11\uff08\u8d2b\u8840\u548c\u514d\u75ab\u529b\u4e0b\u964d\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u68c0\u67e5\u4e0e\u8bca\u65ad | \u68c0\u67e5\u4e0e\u8bca\u65ad<br>\u7591\u4f3c\u75c5\u75c7\u7684\u63d0\u793a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u513f\u7ae5\u548c\u5e74\u8f7b\u4eba\u53cd\u590d\u51fa\u73b0\u9499\u7ed3\u77f3<br><\/li>\n\n\n\n<li>\u80be\u810f\u8d85\u58f0\u68c0\u67e5\u53d1\u73b0\u80be\u9499\u5316<br><\/li>\n\n\n\n<li>\u539f\u56e0\u4e0d\u660e\u7684\u6162\u6027\u80be\u810f\u75c5\uff08CKD\uff09<br><\/li>\n\n\n\n<li>\u5bb6\u65cf\u4e2d\u6709\u7c7b\u4f3c\u75be\u75c5\u7684\u75c5\u4f8b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%9F%A5%E9%A1%B9%E7%9B%AE\"><\/span>\u68c0\u67e5\u9879\u76ee<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>24\u5c0f\u65f6\u5c3f\u8349\u9178\uff08\u5bf9\u6709\u5c3f\u6db2\u6392\u653e\u7684\u60a3\u8005\uff09\uff1a\u5927\u4e8e0.5 mmol\/1.73m\u00b2\/\u65e5\u53ef\u4f5c\u4e3a\u8bca\u65ad\u7ebf\u7d22<br><\/li>\n\n\n\n<li>\u8840\u4e2d\u8349\u9178\uff08\u8fdb\u5c55\u6027\u80be\u635f\u5bb3\u7684\u60a3\u8005\uff09\uff1a\u5927\u4e8e50 \u00b5mol\/L\u5f3a\u70c8\u6000\u7591<br><\/li>\n\n\n\n<li>\u5c3f\u4e2d\u8349\u9170\u4e59\u9178\uff1a\u867d\u6709\u53c2\u8003\u4ef7\u503c\uff0c\u4f46\u4e0d\u80fd\u4f5c\u4e3a\u786e\u8bca\u4f9d\u636e<br><\/li>\n\n\n\n<li>\u7ed3\u77f3\u6210\u5206\u5206\u6790\uff1a\u901a\u5e38\u4e3a\u8349\u9178\u9499\u5355\u6c34\u5408\u7269<br><\/li>\n\n\n\n<li>\u57fa\u56e0\u68c0\u6d4b<br>\n<ul class=\"wp-block-list\">\n<li>\u5982\u679cAGXT\u57fa\u56e0\u7684\u4e24\u4e2a\u62f7\u8d1d\u90fd\u51fa\u73b0\u75c5\u7406\u6027\u53d8\u5f02\uff0c\u5219\u53ef\u786e\u8bca<br><\/li>\n\n\n\n<li>\u591a\u57fa\u56e0\u9762\u677f\uff08PH1\u81f3PH3\u7684\u9274\u522b\u4e5f\u5f88\u6709\u7528\uff09<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u68c0\u51fa\u7387\u9ad8\u8fbe97%\u4ee5\u4e0a<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7597\u4e0e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7ef4\u751f\u7d20B6\uff08\u5421\u54c6\u9187\uff09\u6cbb\u7597\uff1a\u53ef\u80fd\u6539\u5584AGT\u9176\u7684\u529f\u80fd\uff0c\u5c24\u5176\u5bf9p.G170R\u548cp.F152I\u53d8\u5f02\u6709\u6548<br>\n<ul class=\"wp-block-list\">\n<li>\u7528\u91cf\uff1a5~10 mg\/kg\/\u65e5<br><\/li>\n\n\n\n<li>\u6709\u6548\u6807\u51c6\uff1a\u5c3f\u8349\u9178\u51cf\u5c1130%\u4ee5\u4e0a<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>RNA\u5e72\u9884\uff08RNAi\uff09\u6cbb\u7597<br>\n<ul class=\"wp-block-list\">\n<li>\u9732\u9a6c\u897f\u5170\uff08Lumasiran\uff09\uff1a\u6291\u5236\u8349\u9170\u4e59\u9178\u6c27\u5316\u9176\uff08GO\uff09<br>\n<ul class=\"wp-block-list\">\n<li>\u53ef\u7528\u4e8e\u6240\u6709\u5e74\u9f84\u6bb5<br><\/li>\n\n\n\n<li>\u53ef\u51cf\u5c11\u5c3f\u6db2\u548c\u8840\u6db2\u4e2d\u7684\u8349\u9178\u7ea665%<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u7eb3\u591a\u897f\u5170\uff08Nedosiran\uff09\uff1a\u6291\u5236\u4e73\u9178\u8131\u6c22\u9176A\uff08LDHA\uff09<br>\n<ul class=\"wp-block-list\">\n<li>\u9002\u7528\u4e8e9\u5c81\u4ee5\u4e0a\u4e14\u80be\u529f\u80fd\u826f\u597d\u7684\u60a3\u8005<br><\/li>\n\n\n\n<li>\u5bf9PH2\u548cPH3\u7684\u6548\u679c\u5c1a\u5728\u7814\u7a76\u4e2d<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u79fb\u690d\u6cbb\u7597<br>\n<ul class=\"wp-block-list\">\n<li>\u809d\u810f\u79fb\u690d\uff1a\u6839\u672c\u6cbb\u6108\u9176\u7f3a\u5931<br><\/li>\n\n\n\n<li>\u540c\u65f6\u809d\u80be\u79fb\u690d\uff08CLKT\uff09\uff1a\u63a8\u8350\u7528\u4e8e\u672b\u671f\u80be\u8870\u7aed\u60a3\u8005<br><\/li>\n\n\n\n<li>\u5355\u7eaf\u80be\u79fb\u690d\uff1a\u4ec5\u9650\u4e8e\u7ef4\u751f\u7d20B6\u53cd\u5e94\u660e\u786e\u7684\u60a3\u8005<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u652f\u6301\u7597\u6cd5<br>\n<ul class=\"wp-block-list\">\n<li>\u8865\u5145\u6c34\u5206\uff1a\u4fdd\u6301\u6bcf\u65e5\u5c3f\u91cf\u8fbe\u52302-3L\/1.73m\u00b2\u4ee5\u4e0a<br><\/li>\n\n\n\n<li>\u67e0\u6aac\u9178\u6cbb\u7597\uff1a\u9632\u6b62\u8349\u9178\u9499\u7ed3\u6676<br><\/li>\n\n\n\n<li>\u996e\u98df\uff1a\u907f\u514d\u8fc7\u91cf\u6444\u5165\u7ef4\u751f\u7d20C\u548c\u9ad8\u8349\u9178\u98df\u7269<br><\/li>\n\n\n\n<li>\u907f\u514d\u80be\u6bd2\u6027\u836f\u7269\uff1a\u5982NSAIDs\u3001\u901f\u5c3f\u7b49<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u900f\u6790\u6cbb\u7597<br>\n<ul class=\"wp-block-list\">\n<li>\u5f53\u8840\u4e2d\u8349\u9178\u6c34\u5e73\u9ad8\u4e8e30-45 \u00b5mol\/L\u65f6\uff0c\u8003\u8651\u900f\u6790<br><\/li>\n\n\n\n<li>\u53ef\u80fd\u9700\u8981\u6bcf\u54684\u6b21\u4ee5\u4e0a\u7684\u8840\u6db2\u900f\u6790<br><\/li>\n\n\n\n<li>\u900f\u6790\u4ec5\u4e3a\u79fb\u690d\u524d\u7684\u8fc7\u6e21\u6027\u6cbb\u7597<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%80%8F%E6%9E%90\"><\/span>\u900f\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u30b7\u30e5\u30a6\u9178\u304c\u9ad8\u5024\uff0830\u301c45 \u00b5mol\/L\u8d85\uff09\u306a\u3089\u5c0e\u5165\u691c\u8a0e<\/li>\n\n\n\n<li>\u90314\u56de\u4ee5\u4e0a\u306e\u8840\u6db2\u900f\u6790\u304c\u5fc5\u8981\u306a\u3053\u3068\u3082<\/li>\n\n\n\n<li>\u3042\u304f\u307e\u3067\u79fb\u690d\u307e\u3067\u306e\u300c\u3064\u306a\u304e\u300d\u3068\u3057\u3066\u306e\u5f79\u5272<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span>\u9884\u540e <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5a74\u513f\u671f\u53d1\u75c5\uff1a\u8fdb\u5c55\u8fc5\u901f\uff0c\u82e5\u8bca\u65ad\u548c\u6cbb\u7597\u5ef6\u8fdf\uff0c\u75c5\u60c5\u53ef\u80fd\u5f88\u91cd<br><\/li>\n\n\n\n<li>\u7ef4\u751f\u7d20B6\u53cd\u5e94\u6027\u75c5\u4f8b\uff1a\u53ef\u80fd\u5ef6\u7f13\u80be\u8870\u7aed\u7684\u53d1\u751f<br><\/li>\n\n\n\n<li>RNAi\u7597\u6cd5\u7684\u5f15\u5165\uff1a\u8d8a\u6765\u8d8a\u591a\u7684\u75c5\u4f8b\u663e\u793a\uff0c\u79fb\u690d\u53ef\u80fd\u4e0d\u518d\u5fc5\u8981<br><\/li>\n\n\n\n<li>\u65e9\u671f\u8bca\u65ad\u548c\u9002\u5f53\u6cbb\u7597\u53ef\u4ee5\u5b9e\u73b0\u957f\u671f\u80be\u529f\u80fd\u7684\u7ef4\u6301\u548c\u751f\u6d3b\u8d28\u91cf\u7684\u63d0\u9ad8\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1283\/\">Milliner DS, Harris PC, Sas DJ, et al. Primary Hyperoxaluria Type 1. 2002 Jun 19 [Updated 2024 Aug 15]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1283\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/ckj\/sfab217\">Fargue, Sonia, and C\u00e9cile Acquaviva Bourdain. \u2018Primary Hyperoxaluria Type 1: Pathophysiology and Genetics\u2019. <em>Clinical Kidney Journal<\/em>, vol. 15, no. Supplement_1, May 2022, pp. i4\u20138. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1093\/ckj\/sfab217.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00467-023-05917-x\">Wannous, H. Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome. <em>Pediatr Nephrol<\/em> <strong>38<\/strong>, 2643\u20132648 (2023). https:\/\/doi.org\/10.1007\/s00467-023-05917-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40265-022-01735-x\">Hoppe, B., Martin-Higueras, C. Improving Treatment Options for Primary Hyperoxaluria. <em>Drugs<\/em> <strong>82<\/strong>, 1077\u20131094 (2022). https:\/\/doi.org\/10.1007\/s40265-022-01735-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/ckj\/sfab232\">Gupta, Asheeta, et al. \u2018Treatment of Primary Hyperoxaluria Type 1\u2019. <em>Clinical Kidney Journal<\/em>, vol. 15, no. Supplement_1, May 2022, pp. i9\u201313. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1093\/ckj\/sfab232.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00467-022-05613-2\">Mandrile, G., Beck, B., Acquaviva, C. <em>et al.<\/em> Genetic assessment in primary hyperoxaluria: why it matters. <em>Pediatr Nephrol<\/em> <strong>38<\/strong>, 625\u2013634 (2023). https:\/\/doi.org\/10.1007\/s00467-022-05613-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E8%AF%8D%EF%BD%9CKeywords\"><\/span>\u5173\u952e\u8bcd\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\">\u00a0\u4e00\u6b21\u6027\u9ad8\u8349\u9178\u5c3f\u75c7, PH1, AGXT, \u4e19\u6c28\u9178-\u8349\u9170\u4e59\u9178\u6c28\u57fa\u8f6c\u79fb\u9176, \u8349\u9178, \u8349\u9170\u4e59\u9178\u4ee3\u8c22, \u5c3f\u8def\u7ed3\u77f3, \u80be\u9499\u5316, \u5168\u8eab\u6027\u8349\u9178\u75c7, \u9499\u8349\u9178, \u7ef4\u751f\u7d20B6, \u5421\u54c6\u9187, RNA\u5e72\u9884, \u9732\u9a6c\u897f\u5170, \u7eb3\u591a\u897f\u5170, \u809d\u79fb\u690d, \u80be\u79fb\u690d, \u672b\u671f\u80be\u8870\u7aed, \u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20, \u4ee3\u8c22\u6027\u75be\u75c5, \u57fa\u56e0\u8bca\u65ad<\/p>\n\n\n\n<!-- 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