{"id":121959,"date":"2026-01-08T11:16:39","date_gmt":"2026-01-08T02:16:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121959"},"modified":"2026-03-03T16:39:00","modified_gmt":"2026-03-03T07:39:00","slug":"sandhoff-disease-hexb","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sandhoff-disease-hexb\/","title":{"rendered":"\u30b5\u30f3\u30c9\u30db\u30d5\u75c5"},"content":{"rendered":"\n

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

\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u306f\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u9175\u7d20\u3067\u3042\u308b\u03b2-\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u304a\u3088\u3073B\u306e\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u3063\u3066GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u304c\u795e\u7d4c\u7d30\u80de\u5185\u306b\u84c4\u7a4d\u3059\u308b\u3001GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u4e00\u578b\u3067\u3059\u3002\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\u75c5\u3068\u985e\u4f3c\u306e\u75c5\u614b\u3092\u793a\u3057\u307e\u3059\u304c\u3001HEXB\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308a\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\u306e\u4e21\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u969c\u5bb3\u3055\u308c\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u591a\u304f\u306f\u4e73\u5150\u671f\u767a\u75c7\u3067\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u30b5\u30f3\u30c9\u30db\u30d5\u75c5\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3001\u767a\u751f\u983b\u5ea6\u306f\u7d04100\u4e07\u51fa\u751f\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u5404\u5730\u304b\u3089\u6563\u767a\u7684\u306b\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\u306fHEXB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002HEXB\u306f\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bcA\u304a\u3088\u3073B\u306e\u69cb\u6210\u306b\u5fc5\u9808\u3067\u3059\u3002\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u3068GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u7279\u306b\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u84c4\u7a4d\u3057\u3066\u795e\u7d4c\u7d30\u80de\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\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

HEXB\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

\u4e73\u5150\u578b\uff08\u5178\u578b\uff09<\/strong><\/h3>\n\n\n\n
    \n
  • \u751f\u5f8c\u6570\u304b\u6708\u304b\u3089\u306e\u767a\u9054\u9000\u884c<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u3051\u3044\u308c\u3093\u767a\u4f5c<\/li>\n\n\n\n
  • \u8996\u529b\u4f4e\u4e0b\u3001\u7db2\u819c\u306e\u30c1\u30a7\u30ea\u30fc\u30ec\u30c3\u30c9\u30b9\u30dd\u30c3\u30c8<\/li>\n\n\n\n
  • \u53cd\u5fdc\u6027\u4f4e\u4e0b\u3001\u660f\u7761<\/li>\n<\/ul>\n\n\n\n

    \u9045\u767a\u578b<\/strong><\/h3>\n\n\n\n
      \n
    • \u5c0f\u5150\u671f\u4ee5\u964d\u306e\u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n
    • \u7cbe\u795e\u75c7\u72b6<\/li>\n\n\n\n
    • \u7de9\u5f90\u9032\u884c\u6027\u306e\u795e\u7d4c\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u767a\u9054\u9000\u884c\u3068\u795e\u7d4c\u75c7\u72b6\u304b\u3089\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
      2. \u773c\u5e95\u691c\u67fb\u3067\u30c1\u30a7\u30ea\u30fc\u30ec\u30c3\u30c9\u30b9\u30dd\u30c3\u30c8\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
      3. \u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3067\u30d8\u30ad\u30bd\u30b5\u30df\u30cb\u30c0\u30fc\u30bc\u6d3b\u6027\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
      4. HEXB\u907a\u4f1d\u5b50\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\u5728\u306e\u3068\u3053\u308d\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\u3067\u3059\u3002<\/p>\n\n\n\n

          \n
        • \u3051\u3044\u308c\u3093\u306e\u6cbb\u7642<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
        • \u7de9\u548c\u30b1\u30a2<\/li>\n<\/ul>\n\n\n\n

          \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
            \n
          1. GeneReviews\u00ae: Sandhoff Disease<\/em><\/li>\n\n\n\n
          2. MedlinePlus Genetics: Sandhoff disease<\/em><\/li>\n\n\n\n
          3. OMIM: HEXB-related GM2 gangliosidosis<\/li>\n\n\n\n
          4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1aGM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n<\/ol>\n\n\n\n

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