{"id":122046,"date":"2026-01-08T15:53:57","date_gmt":"2026-01-08T06:53:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122046"},"modified":"2026-03-03T13:54:38","modified_gmt":"2026-03-03T04:54:38","slug":"primary-hyperoxaluria-type-1-agxt","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-hyperoxaluria-type-1-agxt\/","title":{"rendered":"\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b\uff08AGXT\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b\uff08Primary Hyperoxaluria Type 1\uff1aPH1\uff09\u306f\u3001\u809d\u81d3\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306b\u5b58\u5728\u3059\u308b\u9175\u7d20\u30a2\u30e9\u30cb\u30f3\uff1a\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08AGT\uff09\u306e\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002AGT\u306f\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u3092\u30b0\u30ea\u30b7\u30f3\u3078\u5909\u63db\u3059\u308b\u89e3\u6bd2\u53cd\u5fdc\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u969c\u5bb3\u306b\u3088\u308a\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u304c\u30b7\u30e5\u30a6\u9178\u3078\u904e\u5270\u5909\u63db\u3055\u308c\u307e\u3059\u3002\u904e\u5270\u306a\u30b7\u30e5\u30a6\u9178\u306f\u30ab\u30eb\u30b7\u30a6\u30e0\u3068\u7d50\u5408\u3057\u3066\u30b7\u30e5\u30a6\u9178\u30ab\u30eb\u30b7\u30a6\u30e0\u7d50\u6676\u3068\u306a\u308a\u3001\u814e\u81d3\u3084\u5c3f\u8def\u306b\u6c88\u7740\u3057\u3066\u5c3f\u8def\u7d50\u77f3\u3001\u814e\u77f3\u7070\u5316\u3001\u814e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u9032\u884c\u3059\u308b\u3068\u814e\u4e0d\u5168\u306b\u81f3\u308a\u3001\u5168\u8eab\u81d3\u5668\u306b\u30b7\u30e5\u30a6\u9178\u304c\u6c88\u7740\u3059\u308b\u5168\u8eab\u6027\u30b7\u30e5\u30a6\u9178\u6c88\u7740\u75c7\uff08systemic oxalosis\uff09\u3092\u6765\u3059\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u4e88\u5f8c\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

PH1\u306e\u6709\u75c5\u7387\u306f\u7d0410\u4e07\u301c20\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e2d\u6771\u3001\u5317\u30a2\u30d5\u30ea\u30ab\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u4e00\u90e8\u5730\u57df\u3067\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fAGXT\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002AGXT\u907a\u4f1d\u5b50\u306f\u30d2\u30c82\u756a\u67d3\u8272\u4f53\uff082q37\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u809d\u7d30\u80de\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u9175\u7d20AGT\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002AGT\u304c\u6b20\u640d\u3059\u308b\u3068\u30b0\u30ea\u30aa\u30ad\u30b7\u30eb\u9178\u304c\u30b7\u30e5\u30a6\u9178\u3078\u4ee3\u8b1d\u3055\u308c\u3001\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u814e\u30fb\u5c3f\u8def\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u53cd\u5fa9\u6027\u5c3f\u8def\u7d50\u77f3<\/li>\n\n\n\n
  • \u8840\u5c3f<\/li>\n\n\n\n
  • \u814e\u77f3\u7070\u5316<\/li>\n\n\n\n
  • \u814e\u4e0d\u5168<\/li>\n<\/ul>\n\n\n\n

    \u5168\u8eab\u6027\uff08\u9032\u884c\u671f\uff09<\/strong><\/h3>\n\n\n\n
      \n
    • \u9aa8\u75db<\/li>\n\n\n\n
    • \u5fc3\u969c\u5bb3<\/li>\n\n\n\n
    • \u76ae\u819a\u6c88\u7740<\/li>\n\n\n\n
    • \u8ca7\u8840<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u5c3f\u4e2d\u30b7\u30e5\u30a6\u9178\u9ad8\u5024<\/li>\n\n\n\n
      2. \u814e\u30a8\u30b3\u30fc\u30fbCT\u3067\u814e\u77f3\u7070\u5316<\/li>\n\n\n\n
      3. \u8840\u4e2d\u30b7\u30e5\u30a6\u9178\u4e0a\u6607\uff08\u9032\u884c\u4f8b\uff09<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08AGXT\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u5927\u91cf\u8f38\u6db2\uff08\u5c3f\u5e0c\u91c8\uff09<\/li>\n\n\n\n
        • \u30af\u30a8\u30f3\u9178\u88fd\u5264<\/li>\n\n\n\n
        • \u30d3\u30bf\u30df\u30f3B6\uff08\u53cd\u5fdc\u578b\u3042\u308a\uff09<\/li>\n\n\n\n
        • RNA\u5e72\u6e09\u85ac\uff08lumasiran\uff09<\/li>\n\n\n\n
        • \u672b\u671f\u814e\u4e0d\u5168\u3067\u306f\u809d\u814e\u540c\u6642\u79fb\u690d<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          \u539f\u767a\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c7\u2160\u578b \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
          Cochat P et al. Primary hyperoxaluria type 1. N Engl J Med. 2013.(NEJM)
          Primary Hyperoxaluria Type 1 \u2014 GeneReviews, PubMed Central.(PMC)
          Primary Hyperoxaluria Type 1 \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

          <\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122046","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122046","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122046\/revisions"}],"predecessor-version":[{"id":125267,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122046\/revisions\/125267"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122046"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}