{"id":101182,"date":"2025-06-13T10:16:36","date_gmt":"2025-06-13T01:16:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101182"},"modified":"2026-03-04T11:55:12","modified_gmt":"2026-03-04T02:55:12","slug":"primary-hyperoxaluria-type1-ph1-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/","title":{"rendered":"\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\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 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 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class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E3%82%88%E3%81%8F%E7%9F%A5%E3%82%89%E3%82%8C%E3%81%9F%E5%A4%89%E7%95%B0%E3%81%A8%E7%89%B9%E5%BE%B4%EF%BC%9A\" >\u3088\u304f\u77e5\u3089\u308c\u305f\u5909\u7570\u3068\u7279\u5fb4\uff1a<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E4%B9%B3%E5%85%90%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E7%94%9F%E5%BE%8C12%E3%83%B6%E6%9C%88%E6%9C%AA%E6%BA%80%EF%BC%89\" >\u4e73\u5150\u671f\u306e\u75c7\u72b6\uff08\u751f\u5f8c12\u30f6\u6708\u672a\u6e80\uff09<\/a><\/li><li class='ez-toc-page-1 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\/#%E5%B0%8F%E5%85%90%E3%83%BB%E6%80%9D%E6%98%A5%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\" >\u5c0f\u5150\u30fb\u601d\u6625\u671f\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E6%88%90%E4%BA%BA%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\" >\u6210\u4eba\u671f\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E5%85%A8%E8%BA%AB%E6%80%A7%E3%82%B7%E3%83%A5%E3%82%A6%E9%85%B8%E7%97%87%EF%BC%88systemic_oxalosis%EF%BC%89%E3%81%AE%E5%BD%B1%E9%9F%BF\" >\u5168\u8eab\u6027\u30b7\u30e5\u30a6\u9178\u75c7\uff08systemic oxalosis\uff09\u306e\u5f71\u97ff<\/a><\/li><\/ul><\/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\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%97%85%E6%B0%97%E3%82%92%E7%96%91%E3%81%86%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u75c5\u6c17\u3092\u7591\u3046\u30dd\u30a4\u30f3\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E6%A4%9C%E6%9F%BB%E9%A0%85%E7%9B%AE\" >\u691c\u67fb\u9805\u76ee<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E3%83%93%E3%82%BF%E3%83%9F%E3%83%B3B6%EF%BC%88%E3%83%94%E3%83%AA%E3%83%89%E3%82%AD%E3%82%B7%E3%83%B3%EF%BC%89%E7%99%82%E6%B3%95\" >\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#RNA%E5%B9%B2%E6%B8%89%EF%BC%88RNAi%EF%BC%89%E6%B2%BB%E7%99%82\" >RNA\u5e72\u6e09\uff08RNAi\uff09\u6cbb\u7642<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E3%83%AB%E3%83%9E%E3%82%B7%E3%83%A9%E3%83%B3%EF%BC%88Lumasiran%EF%BC%89\" >\u30eb\u30de\u30b7\u30e9\u30f3\uff08Lumasiran\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E3%83%8D%E3%83%89%E3%82%B7%E3%83%A9%E3%83%B3%EF%BC%88Nedosiran%EF%BC%89\" >\u30cd\u30c9\u30b7\u30e9\u30f3\uff08Nedosiran\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E7%A7%BB%E6%A4%8D%E6%B2%BB%E7%99%82\" >\u79fb\u690d\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E6%94%AF%E6%8C%81%E7%99%82%E6%B3%95\" >\u652f\u6301\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/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=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300c\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c71\u578b\uff08Primary Hyperoxaluria Type 1\u3001PH1\uff09\u300d\u3068\u3044\u3046\u3001<br>\n\u3068\u3066\u3082\u307e\u308c\u306a\u4f53\u8cea\u6027\u306e\u4ee3\u8b1d\u6027\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>PH1\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u809d\u81d3\u306e\u9175\u7d20\u306e\u50cd\u304d\u304c\u5f31\u304f\u3001<br>\n\u4f53\u5185\u3067\u300c\u30b7\u30e5\u30a6\u9178\u300d\u3068\u3044\u3046\u7269\u8cea\u304c\u305f\u304f\u3055\u3093\u4f5c\u3089\u308c\u3066\u3057\u307e\u3046\u75c5\u6c17\u3067\u3059\u3002<\/p>\n<p>\u75c7\u72b6\u3084\u9032\u884c\u306e\u3057\u304b\u305f\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001<br>\n\u4e73\u5150\u671f\u306b\u91cd\u3044\u814e\u81d3\u306e\u969c\u5bb3\u3092\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308c\u3070\u3001<br>\n\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001PH1\u306e\u539f\u56e0\u3084\u75c7\u72b6\u3001\u691c\u67fb\u65b9\u6cd5\u3001<br>\n\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u7684\u306a\u60c5\u5831\u3092\u3067\u304d\u308b\u3060\u3051\u3084\u3055\u3057\u304f\u4e01\u5be7\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u3054\u5bb6\u65cf\u306bPH1\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u65b9\u3001<br>\n\u4f55\u5ea6\u3082\u814e\u81d3\u7d50\u77f3\u3092\u7e70\u308a\u8fd4\u3059\u65b9\u306a\u3069\u306b\u3068\u3063\u3066\u3001\u5927\u5207\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u5185\u5bb9\u3067\u3059\u3002<\/p>\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_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>\u95a2\u9023\u907a\u4f1d\u5b50\uff1aAGXT\uff08\u30a2\u30e9\u30cb\u30f3\u30fb\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff1aAlanine\u2013glyoxylate aminotransferase\uff09<br>\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\uff1a\u7b2c2\u67d3\u8272\u4f53\u9577\u815537.3\u9818\u57df\uff082q37.3\uff09<br>HGNC ID\uff1aHGNC:341<br>\u30bf\u30f3\u30d1\u30af\u8cea\u7523\u7269\uff1aAGT\u9175\u7d20\uff08AGT\uff1aAlanine\u2013glyoxylate aminotransferase\uff09<br>\u5b58\u5728\u5834\u6240\uff1a\u809d\u81d3\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\uff08\u7d30\u80de\u5185\u3067\u6709\u5bb3\u7269\u8cea\u3092\u5206\u89e3\u3059\u308b\u5834\u6240\uff09<br>\u4e3b\u306a\u5f79\u5272\uff1a\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\uff08glyoxylate\uff09\u3068\u3044\u3046\u7269\u8cea\u3092\u7121\u5bb3\u306a\u30a2\u30df\u30ce\u9178\u306e\u4e00\u3064\u3067\u3042\u308b\u30b0\u30ea\u30b7\u30f3\uff08glycine\uff09\u306b\u5909\u3048\u308b\u50cd\u304d\u3092\u3057\u307e\u3059<\/p>\n\n\n\n<p>AGXT\u907a\u4f1d\u5b50\u306f\u3001\u809d\u81d3\u306e\u7d30\u80de\u5185\u306b\u3042\u308b\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u300d\u3068\u3044\u3046\u5c0f\u3055\u306a\u69cb\u9020\u306b\u5b58\u5728\u3059\u308bAGT\u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u4f53\u5185\u3067\u81ea\u7136\u306b\u3067\u304d\u308b\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u3068\u3044\u3046\u4ee3\u8b1d\u7269\u3092\u3001\u4f53\u306b\u3068\u3063\u3066\u6709\u7528\u306a\u30b0\u30ea\u30b7\u30f3\u306b\u5909\u3048\u308b\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u304c\u6b63\u3057\u304f\u51e6\u7406\u3055\u308c\u305a\u3001\u4f53\u306b\u6709\u5bb3\u306a\u300c\u30b7\u30e5\u30a6\u9178\uff08oxalate\uff09\u300d\u306b\u5909\u308f\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c71\u578b\uff08Primary Hyperoxaluria Type 1\u3001\u7565\u79f0 PH1\uff09<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u809d\u81d3\u306e\u4ee3\u8b1d\u9175\u7d20\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u4f53\u8cea\u6027\uff08\u5148\u5929\u6027\uff09\u306e\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c71\u578b\uff08PH1\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\uff08\u907a\u4f1d\u6027\uff09\u306e\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3001\u4f53\u5185\u3067\u300c\u30b7\u30e5\u30a6\u9178\uff08oxalate\uff09\u300d\u3068\u3044\u3046\u7269\u8cea\u304c\u7570\u5e38\u306b\u305f\u304f\u3055\u3093\u4f5c\u3089\u308c\u3066\u3057\u307e\u3046\u4ee3\u8b1d\u6027\u75be\u60a3\uff08metabolic disorder\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u6765\u3001\u809d\u81d3\u3067\u306f\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\uff08glyoxylate\uff09\u3068\u3044\u3046\u7269\u8cea\u3092\u3001\u9175\u7d20AGT\u306e\u50cd\u304d\u306b\u3088\u3063\u3066\u5b89\u5168\u306a\u30b0\u30ea\u30b7\u30f3\u306b\u5909\u3048\u308b\u4ed5\u7d44\u307f\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001PH1\u3067\u306f\u3053\u306e\u9175\u7d20\u306e\u50cd\u304d\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u5168\u304f\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u304c\u300c\u30b7\u30e5\u30a6\u9178\u300d\u3068\u3044\u3046\u7269\u8cea\u306b\u5909\u308f\u308a\u3059\u304e\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b7\u30e5\u30a6\u9178\u306f\u4f53\u306e\u4e2d\u3067\u5206\u89e3\u3055\u308c\u305a\u3001\u814e\u81d3\uff08\u3058\u3093\u305e\u3046\uff09\u304b\u3089\u5c3f\u3068\u3057\u3066\u51fa\u3059\u3057\u304b\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u305f\u3081\u3001\u4f59\u3063\u305f\u30b7\u30e5\u30a6\u9178\u304c\u4f53\u306e\u4e2d\u3067\u30ab\u30eb\u30b7\u30a6\u30e0\u3068\u7d50\u3073\u3064\u304d\u3001\u300c\u30b7\u30e5\u30a6\u9178\u30ab\u30eb\u30b7\u30a6\u30e0\uff08calcium oxalate\uff09\u300d\u3068\u3044\u3046\u7d50\u6676\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u814e\u81d3\u7d50\u77f3\uff08\u3058\u3093\u305e\u3046\u3051\u3063\u305b\u304d\uff09\u3084\u814e\u81d3\u306e\u77f3\u7070\u5316\uff08\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\uff09\u3001\u3055\u3089\u306b\u9032\u884c\u3059\u308b\u3068\u5168\u8eab\u306e\u81d3\u5668\u306b\u30b7\u30e5\u30a6\u9178\u304c\u305f\u307e\u308b\u300c\u5168\u8eab\u6027\u30b7\u30e5\u30a6\u9178\u75c7\uff08systemic oxalosis\uff09\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xlhypohidrotic-ectodermal-dysplasia\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">X\u9023\u9396\u6027\u4f4e\u6c57\u6027\u5916\u80da\u8449\u7570\u5f62\u6210\u3010EDA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u63a8\u5b9a\u3055\u308c\u308b\u6709\u75c5\u7387\uff1a\u4eba\u53e310\u4e07\u4eba\u3042\u305f\u308a1\u4eba\u301c150\u4e07\u4eba\u3042\u305f\u308a1\u4eba\u7a0b\u5ea6\uff08\u5730\u57df\u5dee\u3042\u308a\uff09<\/li>\n\n\n\n<li>PH\u306e\u4e2d\u3067PH1\u304c\u5360\u3081\u308b\u5272\u5408\uff1a\u7d0480\uff05<\/li>\n\n\n\n<li>\u767a\u75c7\u3057\u3084\u3059\u3044\u5730\u57df\uff1a\u5317\u30a2\u30d5\u30ea\u30ab\u3001\u4e2d\u6771\u3001\u30ab\u30ca\u30ea\u30a2\u8af8\u5cf6\u306a\u3069\uff08\u8840\u7e01\u5a5a\u306a\u3069\u306b\u3088\u308b\u907a\u4f1d\u5b50\u306e\u504f\u308a\u304c\u5f71\u97ff\uff09<\/li>\n\n\n\n<li>\u5c0f\u5150\u306e\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff1aEnd-stage kidney disease\uff09\u539f\u56e0\u306e\u7d0410\uff05\u3092\u5360\u3081\u308b\u5730\u57df\u3082\u3042\u308a<\/li>\n<\/ul>\n\n\n\n<p>PH1\u306f\u3001\u8a3a\u65ad\u3055\u308c\u306b\u304f\u3044\u75be\u60a3\u3067\u3042\u308a\u3001\u7279\u306b\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3067\u306f\u5c3f\u8def\u7d50\u77f3\uff08\u3058\u3093\u305e\u3046\u3051\u3063\u305b\u304d\uff09\u3084\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff1aChronic Kidney Disease\uff09\u3068\u8aa4\u8a8d\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>PH1\u306f\u3001AGXT\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b200\u7a2e\u985e\u4ee5\u4e0a\u306eAGXT\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6b21\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u9175\u7d20\u306e\u4e00\u90e8\u3060\u3051\u304c\u9593\u9055\u3063\u3066\u4f5c\u3089\u308c\u308b\uff09<\/li>\n\n\n\n<li>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u9014\u4e2d\u3067\u4f5c\u308b\u306e\u3092\u3084\u3081\u3066\u3057\u307e\u3046\uff09<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\uff08\u907a\u4f1d\u5b50\u60c5\u5831\u306e\u3064\u306a\u304e\u65b9\u306e\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff08\u5168\u4f53\u306e\u8aad\u307f\u53d6\u308a\u304c\u72c2\u3046\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E7%9F%A5%E3%82%89%E3%82%8C%E3%81%9F%E5%A4%89%E7%95%B0%E3%81%A8%E7%89%B9%E5%BE%B4%EF%BC%9A\"><\/span>\u3088\u304f\u77e5\u3089\u308c\u305f\u5909\u7570\u3068\u7279\u5fb4\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>p.Gly170Arg\u5909\u7570\uff1a\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3001\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u306b\u53cd\u5fdc\u3057\u3084\u3059\u3044<\/li>\n\n\n\n<li>p.Phe152Ile\u5909\u7570\uff1a\u540c\u3058\u304f\u30d3\u30bf\u30df\u30f3B6\u306b\u53cd\u5fdc\u3059\u308b\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li>p.Ile244Thr\u5909\u7570\uff1a\u30e2\u30ed\u30c3\u30b3\u3084\u30ab\u30ca\u30ea\u30a2\u8af8\u5cf6\u3067\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u5909\u7570\u306b\u3088\u3063\u3066AGT\u9175\u7d20\u304c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b63\u3057\u304f\u6298\u308a\u305f\u305f\u3081\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u6b63\u3057\u3044\u5834\u6240\uff08\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\uff09\u306b\u5c4a\u304b\u306a\u3044<\/li>\n\n\n\n<li>\u5b89\u5b9a\u3057\u3066\u5b58\u5728\u3067\u304d\u305a\u58ca\u3055\u308c\u3084\u3059\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u6d3b\u6027\uff08\u50cd\u304d\uff09\u3092\u5931\u3046<\/li>\n<\/ul>\n\n\n\n<p>\u3068\u3044\u3063\u305f\u554f\u984c\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>PH1\u306e\u75c7\u72b6\u306f\u3001\u5e74\u9f62\u3084\u75c5\u72b6\u306e\u9032\u884c\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B9%B3%E5%85%90%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E7%94%9F%E5%BE%8C12%E3%83%B6%E6%9C%88%E6%9C%AA%E6%BA%80%EF%BC%89\"><\/span>\u4e73\u5150\u671f\u306e\u75c7\u72b6\uff08\u751f\u5f8c12\u30f6\u6708\u672a\u6e80\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u80b2\u4e0d\u826f\uff08\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u5143\u6c17\u304c\u306a\u3044\uff09<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u77f3\u7070\u6c88\u7740\uff08\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\uff09<\/li>\n\n\n\n<li>\u6025\u901f\u306b\u9032\u884c\u3059\u308b\u672b\u671f\u814e\u4e0d\u5168\uff08ESKD\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%8F%E5%85%90%E3%83%BB%E6%80%9D%E6%98%A5%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u5c0f\u5150\u30fb\u601d\u6625\u671f\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7e70\u308a\u8fd4\u3059\u814e\u81d3\u7d50\u77f3\uff08\u3058\u3093\u305e\u3046\u3051\u3063\u305b\u304d\uff09<\/li>\n\n\n\n<li>\u8840\u5c3f\uff08\u5c3f\u306b\u8840\u304c\u6df7\u3058\u308b\uff09<\/li>\n\n\n\n<li>\u5c3f\u8def\u611f\u67d3\u75c7<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u6210\u4eba\u671f\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7e70\u308a\u8fd4\u3059\u814e\u7d50\u77f3\uff08\u9577\u5e74\u8a3a\u65ad\u3055\u308c\u306a\u3044\u3053\u3068\u3082\uff09<\/li>\n\n\n\n<li>\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09\u304c\u9032\u884c\u3057\u3066\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%A8%E8%BA%AB%E6%80%A7%E3%82%B7%E3%83%A5%E3%82%A6%E9%85%B8%E7%97%87%EF%BC%88systemic_oxalosis%EF%BC%89%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span>\u5168\u8eab\u6027\u30b7\u30e5\u30a6\u9178\u75c7\uff08systemic oxalosis\uff09\u306e\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\uff1a\u9aa8\u306e\u3082\u308d\u3055\u3001\u9aa8\u6298\u3001\u767a\u80b2\u9045\u5ef6<\/li>\n\n\n\n<li>\u76ee\uff1a\u7db2\u819c\u306e\u7dda\u7dad\u5316\u3001\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u5fc3\u81d3\uff1a\u5fc3\u7b4b\u75c7\u3001\u4e0d\u6574\u8108<\/li>\n\n\n\n<li>\u8840\u7ba1\u30fb\u672b\u68a2\u795e\u7d4c\uff1a\u58ca\u75bd\uff08\u3048\u305d\uff09\u3001\u3057\u3073\u308c\u3001\u5faa\u74b0\u4e0d\u5168<\/li>\n\n\n\n<li>\u9aa8\u9ac4\uff1a\u8840\u7403\u6e1b\u5c11\uff08\u8ca7\u8840\u3084\u514d\u75ab\u529b\u306e\u4f4e\u4e0b\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%82%92%E7%96%91%E3%81%86%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span>\u75c5\u6c17\u3092\u7591\u3046\u30dd\u30a4\u30f3\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u3084\u82e5\u5e74\u3067\u7e70\u308a\u8fd4\u3059\u30ab\u30eb\u30b7\u30a6\u30e0\u7d50\u77f3<\/li>\n\n\n\n<li>\u814e\u30a8\u30b3\u30fc\u3067\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\u304c\u898b\u3064\u304b\u308b<\/li>\n\n\n\n<li>\u539f\u56e0\u4e0d\u660e\u306e\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5185\u306b\u540c\u69d8\u306e\u75c5\u6c17\u304c\u3042\u308b<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E9%A0%85%E7%9B%AE\"><\/span>\u691c\u67fb\u9805\u76ee<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>24\u6642\u9593\u5c3f\u4e2d\u30b7\u30e5\u30a6\u9178\uff08\u5c3f\u304c\u51fa\u308b\u4eba\uff09\uff1a0.5 mmol\/1.73m\u00b2\/\u65e5\u4ee5\u4e0a\u3067\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a<\/li>\n\n\n\n<li>\u8840\u4e2d\u30b7\u30e5\u30a6\u9178\uff08\u9032\u884c\u3057\u305f\u814e\u969c\u5bb3\u306e\u4eba\uff09\uff1a50 \u00b5mol\/L\u4ee5\u4e0a\u3067\u5f37\u304f\u7591\u308f\u308c\u308b<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u30b0\u30ea\u30b3\u30fc\u30eb\u9178\uff1a\u53c2\u8003\u306b\u306a\u308b\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306f\u306a\u3089\u306a\u3044<\/li>\n\n\n\n<li>\u7d50\u77f3\u6210\u5206\u5206\u6790\uff1a\u4e3b\u306b\u30b7\u30e5\u30a6\u9178\u30ab\u30eb\u30b7\u30a6\u30e0\u30e2\u30ce\u30cf\u30a4\u30c9\u30ec\u30fc\u30c8\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><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<ul class=\"wp-block-list\">\n<li>AGXT\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308c\u3070\u78ba\u5b9a\u8a3a\u65ad<\/li>\n\n\n\n<li>\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\uff08PH1\u301cPH3\u306e\u9451\u5225\u306b\u3082\u6709\u7528\uff09<\/li>\n\n\n\n<li>\u691c\u51fa\u7387\u306f97\uff05\u4ee5\u4e0a\u3068\u9ad8\u7cbe\u5ea6<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/homocystinuria-cbs-deficiency-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2-\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u640d\u306b\u3088\u308b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3010CBS\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u4f53\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u76ee\u3084\u9aa8\u3001\u8840\u7ba1\u306a\u3069\u306b\u5f71\u97ff\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%93%E3%82%BF%E3%83%9F%E3%83%B3B6%EF%BC%88%E3%83%94%E3%83%AA%E3%83%89%E3%82%AD%E3%82%B7%E3%83%B3%EF%BC%89%E7%99%82%E6%B3%95\"><\/span>\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AGT\u9175\u7d20\u306e\u50cd\u304d\u3092\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u3042\u308a<\/li>\n\n\n\n<li>\u7279\u306bp.G170R\u3084p.F152I\u5909\u7570\u306b\u6709\u52b9<\/li>\n\n\n\n<li>\u7528\u91cf\uff1a5\u301c10 mg\/kg\/\u65e5<\/li>\n\n\n\n<li>\u6709\u52b9\u6027\u306e\u76ee\u5b89\uff1a\u5c3f\u4e2d\u30b7\u30e5\u30a6\u9178\u304c30\uff05\u4ee5\u4e0a\u6e1b\u5c11<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RNA%E5%B9%B2%E6%B8%89%EF%BC%88RNAi%EF%BC%89%E6%B2%BB%E7%99%82\"><\/span>RNA\u5e72\u6e09\uff08RNAi\uff09\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AB%E3%83%9E%E3%82%B7%E3%83%A9%E3%83%B3%EF%BC%88Lumasiran%EF%BC%89\"><\/span>\u30eb\u30de\u30b7\u30e9\u30f3\uff08Lumasiran\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b0\u30ea\u30b3\u30fc\u30eb\u9178\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\uff08GO\uff09\u3092\u6291\u5236<\/li>\n\n\n\n<li>\u5168\u5e74\u9f62\u3067\u4f7f\u7528\u53ef\u80fd<\/li>\n\n\n\n<li>\u5c3f\u30fb\u8840\u4e2d\u30b7\u30e5\u30a6\u9178\u3092\u7d0465\uff05\u6e1b\u5c11<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%8D%E3%83%89%E3%82%B7%E3%83%A9%E3%83%B3%EF%BC%88Nedosiran%EF%BC%89\"><\/span>\u30cd\u30c9\u30b7\u30e9\u30f3\uff08Nedosiran\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>LDHA\uff08\u4e73\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bcA\uff09\u3092\u6291\u5236<\/li>\n\n\n\n<li>9\u6b73\u4ee5\u4e0a\u30fb\u814e\u6a5f\u80fd\u304c\u4fdd\u305f\u308c\u3066\u3044\u308b\u4eba\u306b\u4f7f\u7528<\/li>\n\n\n\n<li>PH2\u3084PH3\u3078\u306e\u52b9\u679c\u306f\u307e\u3060\u7814\u7a76\u6bb5\u968e<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A7%BB%E6%A4%8D%E6%B2%BB%E7%99%82\"><\/span>\u79fb\u690d\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u81d3\u79fb\u690d\uff1a\u9175\u7d20\u306e\u6b20\u640d\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059<\/li>\n\n\n\n<li>\u540c\u6642\u809d\u814e\u79fb\u690d\uff08CLKT\uff09\uff1a\u672b\u671f\u814e\u4e0d\u5168\u3067\u306f\u63a8\u5968<\/li>\n\n\n\n<li>\u814e\u79fb\u690d\u306e\u307f\uff1a\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u304c\u660e\u78ba\u306a\u60a3\u8005\u306b\u9650\u5b9a<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%94%AF%E6%8C%81%E7%99%82%E6%B3%95\"><\/span>\u652f\u6301\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u5206\u88dc\u7d66\uff1a\u5c3f\u91cf\u30921\u65e52\u301c3 L\/1.73m\u00b2\u4ee5\u4e0a\u306b\u4fdd\u3064<\/li>\n\n\n\n<li>\u30af\u30a8\u30f3\u9178\u7642\u6cd5\uff1a\u30b7\u30e5\u30a6\u9178\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u7d50\u6676\u5316\u3092\u9632\u3050<\/li>\n\n\n\n<li>\u98df\u4e8b\uff1a\u30d3\u30bf\u30df\u30f3C\u3084\u9ad8\u30b7\u30e5\u30a6\u9178\u98df\u54c1\u306e\u904e\u5270\u6442\u53d6\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u814e\u6bd2\u6027\u85ac\u5264\u3092\u56de\u907f\uff1aNSAIDs\u3001\u30eb\u30fc\u30d7\u5229\u5c3f\u85ac\u306a\u3069<\/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=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul 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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=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7, PH1, AGXT, \u30a2\u30e9\u30cb\u30f3\u30fb\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc, \u30b7\u30e5\u30a6\u9178, \u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u4ee3\u8b1d, \u5c3f\u8def\u7d50\u77f3, \u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9, \u5168\u8eab\u6027\u30b7\u30e5\u30a6\u9178\u75c7, \u30ab\u30eb\u30b7\u30a6\u30e0\u30b7\u30e5\u30a6\u9178, \u30d3\u30bf\u30df\u30f3B6, \u30d4\u30ea\u30c9\u30ad\u30b7\u30f3, RNA\u5e72\u6e09, \u30eb\u30de\u30b7\u30e9\u30f3, \u30cd\u30c9\u30b7\u30e9\u30f3, 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