{"id":121939,"date":"2026-01-08T10:14:21","date_gmt":"2026-01-08T01:14:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121939"},"modified":"2026-03-03T16:45:53","modified_gmt":"2026-03-03T07:45:53","slug":"niemann-pick-disease-types-a-b-smpd1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-types-a-b-smpd1\/","title":{"rendered":"\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n

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

\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u306f\u3001\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u9175\u7d20\u3067\u3042\u308b\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u306e\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30f3\u304c\u5168\u8eab\u306e\u7d30\u80de\u306b\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u84c4\u7a4d\u75c7\u3067\u3059\u3002\u5f93\u6765\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5A\u578b\u304a\u3088\u3073B\u578b\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002
A\u578b\u306f\u4e73\u5150\u671f\u767a\u75c7\u3067\u6025\u901f\u306b\u9032\u884c\u3059\u308b\u91cd\u75c7\u578b\u3001B\u578b\u306f\u5c0f\u5150\u671f\u4ee5\u964d\u767a\u75c7\u3067\u6bd4\u8f03\u7684\u9032\u884c\u304c\u7de9\u3084\u304b\u306a\u6162\u6027\u578b\u3068\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u751f\u983b\u5ea6\u306f\u7d0425\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u96c6\u56e3\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\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\u306fSMPD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002SMPD1\u306f\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30f3\u3092\u30bb\u30e9\u30df\u30c9\u3068\u30db\u30b9\u30db\u30b3\u30ea\u30f3\u306b\u5206\u89e3\u3059\u308b\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u304c\u6b20\u640d\u307e\u305f\u306f\u4f4e\u4e0b\u3059\u308b\u3068\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30f3\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u809d\u81d3\u30fb\u813e\u81d3\u30fb\u80ba\u30fb\u9aa8\u9ac4\u30fb\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306a\u3069\u306b\u84c4\u7a4d\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

SMPD1\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

A\u578b\uff08\u91cd\u75c7\u578b\uff09<\/strong><\/h3>\n\n\n\n
    \n
  • \u4e73\u5150\u671f\u767a\u75c7\u306e\u809d\u813e\u816b<\/li>\n\n\n\n
  • \u54fa\u4e73\u4e0d\u826f\u30fb\u4f53\u91cd\u5897\u52a0\u4e0d\u826f<\/li>\n\n\n\n
  • \u767a\u9054\u9000\u884c<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

    B\u578b\uff08\u6162\u6027\u578b\uff09<\/strong><\/h3>\n\n\n\n
      \n
    • \u809d\u813e\u816b<\/li>\n\n\n\n
    • \u80ba\u6d78\u6f64\u30fb\u547c\u5438\u6a5f\u80fd\u969c\u5bb3<\/li>\n\n\n\n
    • \u8840\u5c0f\u677f\u6e1b\u5c11<\/li>\n\n\n\n
    • \u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n
    • \u795e\u7d4c\u75c7\u72b6\u306f\u901a\u5e38\u8efd\u5fae\u307e\u305f\u306f\u8a8d\u3081\u307e\u305b\u3093<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u809d\u813e\u816b\u3084\u80ba\u969c\u5bb3\u306a\u3069\u306e\u81e8\u5e8a\u50cf\u304b\u3089\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
      2. \u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3067\u9178\u6027\u30b9\u30d5\u30a3\u30f3\u30b4\u30df\u30a8\u30ea\u30ca\u30fc\u30bc\u6d3b\u6027\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
      3. \u9aa8\u9ac4\u691c\u67fb\u3067\u6ce1\u6cab\u7d30\u80de\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n
      4. SMPD1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\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

        \u5f93\u6765\u306f\u5bfe\u75c7\u7642\u6cd5\u306e\u307f\u3067\u3057\u305f\u304c\u3001B\u578b\u3092\u5bfe\u8c61\u3068\u3057\u305f\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u81e8\u5e8a\u5fdc\u7528\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002A\u578b\u306b\u5bfe\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n

          \n
        • \u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08B\u578b\uff09<\/li>\n\n\n\n
        • \u547c\u5438\u7ba1\u7406\u3001\u611f\u67d3\u4e88\u9632<\/li>\n\n\n\n
        • \u8840\u6db2\u5b66\u7684\u7570\u5e38\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n

          \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
            \n
          1. GeneReviews\u00ae: Acid Sphingomyelinase Deficiency<\/em><\/li>\n\n\n\n
          2. MedlinePlus Genetics: Niemann-Pick disease<\/em><\/li>\n\n\n\n
          3. OMIM: SMPD1-related Niemann-Pick disease<\/li>\n\n\n\n
          4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5<\/li>\n<\/ol>\n\n\n\n

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