{"id":121935,"date":"2026-01-08T10:02:51","date_gmt":"2026-01-08T01:02:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121935"},"modified":"2026-03-03T16:46:44","modified_gmt":"2026-03-03T07:46:44","slug":"neuronal-ceroid-lipofuscinosis-cln6-related-cln6","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln6-related-cln6\/","title":{"rendered":"\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7[CLN6]"},"content":{"rendered":"\n

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

\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08NCL\uff09\u306f\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u7d30\u80de\u5185\u4ee3\u8b1d\u7570\u5e38\u306b\u3088\u308a\u3001\u795e\u7d4c\u7d30\u80de\u5185\u306b\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3068\u547c\u3070\u308c\u308b\u8102\u8cea\u30fb\u86cb\u767d\u8907\u5408\u4f53\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002
CLN6\u95a2\u9023NCL\u306f\u305d\u306e\u4e2d\u306e\u4e00\u578b\u3067\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u8996\u529b\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u3001\u904b\u52d5\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u9032\u884c\u6027\u306b\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f\u7d041\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u3067CLN6\u578b\u306f\u6bd4\u8f03\u7684\u307e\u308c\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3059\u3002\u5730\u57df\u3084\u6c11\u65cf\u306b\u3088\u3063\u3066\u7279\u5b9a\u306e\u578b\u304c\u591a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001CLN6\u578b\u306f\u4e16\u754c\u5404\u5730\u304b\u3089\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u75c5\u56e0<\/strong><\/h3>\n\n\n\n

\u672c\u75be\u60a3\u306fCLN6\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002CLN6\u907a\u4f1d\u5b50\u306f\u5c0f\u80de\u4f53\u819c\u306b\u5c40\u5728\u3059\u308bCLN6\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u86cb\u767d\u306e\u8f38\u9001\u3084\u54c1\u8cea\u7ba1\u7406\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u69cb\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u7570\u5e38\u86cb\u767d\u306e\u5206\u89e3\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u795e\u7d4c\u7d30\u80de\u5185\u306b\u84c4\u7a4d\u7269\u304c\u305f\u307e\u308a\u3001\u795e\u7d4c\u7d30\u80de\u6b7b\u304c\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n

\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/strong><\/h3>\n\n\n\n

CLN6\u907a\u4f1d\u5b50\u306f\u5f53\u9662\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u89e3\u6790\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n

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

\u767a\u75c7\u5e74\u9f62\u3084\u9032\u884c\u901f\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5178\u578b\u7684\u306b\u306f\u4ee5\u4e0b\u306e\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

\u521d\u671f\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
    \n
  • \u767a\u9054\u306e\u505c\u6ede\u307e\u305f\u306f\u9000\u884c<\/li>\n\n\n\n
  • \u8996\u529b\u4f4e\u4e0b\uff08\u8996\u795e\u7d4c\u840e\u7e2e\u30fb\u7db2\u819c\u5909\u6027\uff09<\/li>\n\n\n\n
  • \u3066\u3093\u304b\u3093\u767a\u4f5c<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u671f\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
      \n
    • \u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u30fb\u8a8d\u77e5\u75c7\u69d8\u75c7\u72b6<\/li>\n\n\n\n
    • \u904b\u52d5\u5931\u8abf\u3001\u6b69\u884c\u969c\u5bb3<\/li>\n\n\n\n
    • \u69cb\u97f3\u969c\u5bb3\u3001\u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n
    • \u7b4b\u7dca\u5f35\u7570\u5e38<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u8996\u529b\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u9000\u884c\u306a\u3069\u304b\u3089\u672c\u75be\u60a3\u3092\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
      2. \u773c\u79d1\u691c\u67fb\u3067\u7db2\u819c\u5909\u6027\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n
      3. MRI\u3067\u8133\u840e\u7e2e\u306a\u3069\u306e\u6240\u898b\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n
      4. \u96fb\u9855\u3084\u751f\u691c\u3067\u7279\u5fb4\u7684\u306a\u84c4\u7a4d\u7269\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n
      5. CLN6\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306e\u540c\u5b9a\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

        \u73fe\u6642\u70b9\u3067\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u3068\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

          \n
        • \u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u5bfe\u3059\u308b\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n
        • \u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406\u3001\u56a5\u4e0b\u30ea\u30cf\u30d3\u30ea<\/li>\n\n\n\n
        • \u5fc3\u7406\u793e\u4f1a\u7684\u652f\u63f4\u3001\u5bb6\u65cf\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n

          \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
            \n
          1. GeneReviews\u00ae: Neuronal Ceroid Lipofuscinosis<\/em><\/li>\n\n\n\n
          2. MedlinePlus Genetics: Neuronal ceroid lipofuscinosis<\/em><\/li>\n\n\n\n
          3. OMIM: CLN6-related neuronal ceroid lipofuscinosis<\/li>\n\n\n\n
          4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7<\/li>\n<\/ol>\n\n\n\n

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