{"id":122028,"date":"2026-01-08T14:41:54","date_gmt":"2026-01-08T05:41:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122028"},"modified":"2026-03-03T15:41:52","modified_gmt":"2026-03-03T06:41:52","slug":"krabbe-disease-galc","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/krabbe-disease-galc\/","title":{"rendered":"\u30af\u30e9\u30c3\u30d9\u75c5\uff08GALC\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u30af\u30e9\u30c3\u30d9\u75c5\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u3067\u3042\u308b\u30ac\u30e9\u30af\u30c8\u30bb\u30ec\u30d6\u30ed\u30b7\u30c0\u30fc\u30bc\uff08GALC\uff09\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u8131\u9ac4\u6027\u30ea\u30bd\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002GALC\u6d3b\u6027\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u30ac\u30e9\u30af\u30c8\u30bb\u30ec\u30d6\u30ed\u30b7\u30c9\u3084\u30b5\u30a4\u30b3\u30b7\u30f3\uff08psychosine\uff09\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u7279\u306b\u30aa\u30ea\u30b4\u30c7\u30f3\u30c9\u30ed\u30b5\u30a4\u30c8\u3084\u30b7\u30e5\u30ef\u30f3\u7d30\u80de\u306b\u6bd2\u6027\u3092\u793a\u3057\u3066\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u4e2d\u67a2\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u306e\u8131\u9ac4\u304c\u9032\u884c\u3057\u3001\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u4e73\u5150\u671f\u767a\u75c7\u578b\u304c\u6700\u3082\u591a\u304f\u3001\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306b\u904e\u654f\u6027\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u3001\u767a\u9054\u9000\u884c\u304c\u51fa\u73fe\u3057\u3001\u6025\u901f\u306b\u9032\u884c\u3057\u307e\u3059\u3002\u5c0f\u5150\u671f\u30fb\u6210\u4eba\u671f\u767a\u75c7\u578b\u3067\u306f\u3088\u308a\u7de9\u5f90\u306a\u9032\u884c\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u30af\u30e9\u30c3\u30d9\u75c5\u306e\u6709\u75c5\u7387\u306f\u7d0410\u4e07\u4eba\u51fa\u751f\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u65e5\u672c\u3092\u542b\u3080\u4e16\u754c\u5404\u5730\u3067\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5317\u6b27\u3084\u30a4\u30b9\u30e9\u30a8\u30eb\u306e\u4e00\u90e8\u96c6\u56e3\u3067\u3084\u3084\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fGALC\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002GALC\u907a\u4f1d\u5b50\u306f\u30d2\u30c814\u756a\u67d3\u8272\u4f53\uff0814q31\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ac\u30e9\u30af\u30c8\u30bb\u30ec\u30d6\u30ed\u30b7\u30c0\u30fc\u30bc\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u30df\u30a8\u30ea\u30f3\u69cb\u6210\u8102\u8cea\u306e\u5206\u89e3\u306b\u95a2\u4e0e\u3057\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30b5\u30a4\u30b3\u30b7\u30f3\u304c\u84c4\u7a4d\u3057\u3066\u5f37\u3044\u795e\u7d4c\u6bd2\u6027\u3092\u793a\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

\u4e73\u5150\u671f\u767a\u75c7\u578b<\/strong><\/h3>\n\n\n\n
    \n
  • \u6613\u523a\u6fc0\u6027\u3001\u904e\u654f<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4ea2\u9032\u307e\u305f\u306f\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u767a\u9054\u9000\u884c<\/li>\n\n\n\n
  • \u3051\u3044\u308c\u3093<\/li>\n\n\n\n
  • \u8996\u899a\u969c\u5bb3\u3001\u8074\u899a\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

    \u9045\u767a\u578b<\/strong><\/h3>\n\n\n\n
      \n
    • \u6b69\u884c\u969c\u5bb3<\/li>\n\n\n\n
    • \u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n
    • \u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u8996\u529b\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u6240\u898b\uff08\u767a\u9054\u9000\u884c\uff0b\u904e\u654f\uff0b\u795e\u7d4c\u75c7\u72b6\uff09<\/li>\n\n\n\n
      2. MRI\u3067\u8131\u9ac4\u6240\u898b<\/li>\n\n\n\n
      3. GALC\u9175\u7d20\u6d3b\u6027\u4f4e\u4e0b<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08GALC\u5909\u7570\u540c\u5b9a\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08\u65e9\u671f\u4e73\u5150\u4f8b\u3067\u6709\u52b9\uff09<\/li>\n\n\n\n
        • \u3051\u3044\u308c\u3093\u7ba1\u7406<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n

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

          \u30af\u30e9\u30c3\u30d9\u75c5 \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)
          Suzuki K et al. Globoid cell leukodystrophy (Krabbe disease). Brain Pathol. 1999.(Nature)
          Krabbe Disease \u2014 GeneReviews, PubMed Central.(PMC)
          Krabbe Disease \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122028","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\/122028","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\/122028\/revisions"}],"predecessor-version":[{"id":125273,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122028\/revisions\/125273"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122028"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}