{"id":122024,"date":"2026-01-08T14:34:47","date_gmt":"2026-01-08T05:34:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122024"},"modified":"2026-03-03T16:01:06","modified_gmt":"2026-03-03T07:01:06","slug":"niemann-pick-disease-type-c1-d-npc1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c1-d-npc1\/","title":{"rendered":"\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5 C1\/D\u578b\uff08NPC1\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304a\u3088\u3073\u30b9\u30d5\u30a3\u30f3\u30b4\u8102\u8cea\u306e\u7d30\u80de\u5185\u8f38\u9001\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e0c\u5c11\u306a\u30ea\u30bd\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002NPC1\u95a2\u9023\u578b\u306f\u305d\u306e\u5927\u90e8\u5206\u3092\u5360\u3081\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u3084\u5f8c\u671f\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u304b\u3089\u306e\u8102\u8cea\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u3084\u809d\u813e\u306b\u8102\u8cea\u304c\u84c4\u7a4d\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u3001\u809d\u813e\u816b\u3001\u7cbe\u795e\u795e\u7d4c\u75c7\u72b6\u306a\u3069\u591a\u5f69\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u767a\u75c7\u5e74\u9f62\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u6210\u4eba\u671f\u307e\u3067\u5e45\u5e83\u304f\u3001\u4e73\u5150\u671f\u767a\u75c7\u4f8b\u3067\u306f\u809d\u969c\u5bb3\u304c\u524d\u666f\u306b\u7acb\u3061\u3001\u5b66\u7ae5\u671f\u301c\u6210\u4eba\u671f\u767a\u75c7\u4f8b\u3067\u306f\u904b\u52d5\u5931\u8abf\u3001\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3001\u7cbe\u795e\u75c7\u72b6\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002\u9032\u884c\u6027\u3067\u3042\u308b\u305f\u3081\u65e9\u671f\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u306e\u6709\u75c5\u7387\u306f\u7d0412\u4e07\u51fa\u751f\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u4e16\u754c\u4e2d\u306b\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u5730\u57df\u3067\u306e\u96c6\u7a4d\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u30d5\u30e9\u30f3\u30b9\u3001\u30b9\u30da\u30a4\u30f3\u3001\u30c9\u30a4\u30c4\u306a\u3069\u3067\u6bd4\u8f03\u7684\u591a\u304f\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\u306fNPC1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002NPC1\u907a\u4f1d\u5b50\u306f\u30d2\u30c818\u756a\u67d3\u8272\u4f53\uff0818q11\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u819c\u306b\u5b58\u5728\u3059\u308b\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8f38\u9001\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u7d30\u80de\u5185\u306b\u53d6\u308a\u8fbc\u307e\u308c\u305f\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u30ea\u30bd\u30bd\u30fc\u30e0\u304b\u3089\u6392\u51fa\u3055\u308c\u305a\u3001\u795e\u7d4c\u7d30\u80de\u3092\u4e2d\u5fc3\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

\u4e73\u5150\u671f\u767a\u75c7<\/strong><\/h3>\n\n\n\n
    \n
  • \u809d\u813e\u816b<\/li>\n\n\n\n
  • \u9ec4\u75b8<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

    \u5c0f\u5150\u301c\u6210\u4eba\u671f\u767a\u75c7<\/strong><\/h3>\n\n\n\n
      \n
    • \u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n
    • \u5782\u76f4\u6027\u773c\u7403\u904b\u52d5\u969c\u5bb3<\/li>\n\n\n\n
    • \u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b<\/li>\n\n\n\n
    • \u7cbe\u795e\u75c7\u72b6\uff08\u3046\u3064\u3001\u5e7b\u899a\uff09<\/li>\n\n\n\n
    • \u56a5\u4e0b\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u6240\u898b\uff08\u5782\u76f4\u6027\u773c\u7403\u904b\u52d5\u969c\u5bb3\uff0b\u904b\u52d5\u5931\u8abf\uff09<\/li>\n\n\n\n
      2. \u30d5\u30a3\u30ea\u30d4\u30f3\u67d3\u8272\u8a66\u9a13\u3067\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u84c4\u7a4d\u78ba\u8a8d<\/li>\n\n\n\n
      3. \u30aa\u30ad\u30b7\u30b9\u30c6\u30ed\u30fc\u30eb\u6e2c\u5b9a<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08NPC1\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u30df\u30b0\u30eb\u30b9\u30bf\u30c3\u30c8\u306b\u3088\u308b\u9032\u884c\u6291\u5236<\/li>\n\n\n\n
        • \u5bfe\u75c7\u7642\u6cd5\uff08\u30ea\u30cf\u30d3\u30ea\u3001\u56a5\u4e0b\u8a13\u7df4\uff09<\/li>\n\n\n\n
        • \u809d\u6a5f\u80fd\u30fb\u7cbe\u795e\u75c7\u72b6\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n

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

          \u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\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)
          Carstea ED et al. Niemann-Pick disease type C1 is caused by mutations in NPC1. Science. 1997.(Science)
          Niemann-Pick Disease Type C \u2014 GeneReviews, PubMed Central.(PMC)
          Niemann-Pick Disease Type C \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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