{"id":121965,"date":"2026-01-08T11:28:36","date_gmt":"2026-01-08T02:28:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121965"},"modified":"2026-01-08T11:28:37","modified_gmt":"2026-01-08T02:28:37","slug":"familial-hypercholesterolemia-ldlr-related-ldlr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/familial-hypercholesterolemia-ldlr-related-ldlr\/","title":{"rendered":"\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7"},"content":{"rendered":"\n

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

\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\uff08Familial Hypercholesterolemia\uff1aFH\uff09\u306f\u3001\u8840\u4e2dLDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u751f\u307e\u308c\u3064\u304d\u9ad8\u5024\u3068\u306a\u308b\u907a\u4f1d\u6027\u8102\u8cea\u7570\u5e38\u75c7\u3067\u3059\u3002LDL\u53d7\u5bb9\u4f53\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001\u8840\u4e2d\u304b\u3089LDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u5341\u5206\u306b\u9664\u53bb\u3055\u308c\u305a\u3001\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u304c\u6301\u7d9a\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u82e5\u5e74\u671f\u304b\u3089\u52d5\u8108\u786c\u5316\u304c\u9032\u884c\u3057\u3001\u5fc3\u7b4b\u6897\u585e\u3084\u72ed\u5fc3\u75c7\u306a\u3069\u306e\u51a0\u52d5\u8108\u75be\u60a3\u3092\u65e9\u671f\u306b\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

FH\u306f\u6cbb\u7642\u53ef\u80fd\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u3063\u3066\u5fc3\u8840\u7ba1\u30a4\u30d9\u30f3\u30c8\u306e\u4e88\u9632\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n

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

FH\u306e\u983b\u5ea6\u306f\u6bd4\u8f03\u7684\u9ad8\u304f\u3001\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u578b\u306f\u7d04200\u301c500\u4eba\u306b1\u4eba\u3001\u30db\u30e2\u63a5\u5408\u4f53\u578b\u306f\u7d04100\u4e07\u301c30\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u56fd\u5185\u3067\u3082\u7d0430\u4e07\u4eba\u4ee5\u4e0a\u306e\u60a3\u8005\u304c\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\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\u306fLDLR\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002LDLR\u306f\u809d\u7d30\u80de\u8868\u9762\u306b\u5b58\u5728\u3059\u308bLDL\u53d7\u5bb9\u4f53\u3092\u30b3\u30fc\u30c9\u3057\u3001\u8840\u4e2d\u306eLDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u809d\u81d3\u306b\u53d6\u308a\u8fbc\u3080\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002\u3053\u306e\u53d7\u5bb9\u4f53\u304c\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4f4e\u4e0b\u3059\u308b\u3068LDL\u304c\u8840\u4e2d\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u4e3b\u306b\u5e38\u67d3\u8272\u4f53\u512a\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

LDLR\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

\u8102\u8cea\u7570\u5e38<\/strong><\/h3>\n\n\n\n
    \n
  • \u9ad8LDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\uff08\u3057\u3070\u3057\u3070250mg\/dL\u4ee5\u4e0a\uff09<\/li>\n<\/ul>\n\n\n\n

    \u8eab\u4f53\u6240\u898b<\/strong><\/h3>\n\n\n\n
      \n
    • \u8171\u9ec4\u8272\u816b\uff08\u30a2\u30ad\u30ec\u30b9\u8171\u80a5\u539a\uff09<\/li>\n\n\n\n
    • \u773c\u77bc\u9ec4\u8272\u816b<\/li>\n\n\n\n
    • \u82e5\u5e74\u6027\u89d2\u819c\u8f2a<\/li>\n<\/ul>\n\n\n\n

      \u5fc3\u8840\u7ba1\u7cfb<\/strong><\/h3>\n\n\n\n
        \n
      • \u82e5\u5e74\u6027\u51a0\u52d5\u8108\u75be\u60a3<\/li>\n\n\n\n
      • \u72ed\u5fc3\u75c7\u30fb\u5fc3\u7b4b\u6897\u585e<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
          \n
        1. \u9ad8LDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u3068\u5bb6\u65cf\u6b74\u304b\u3089\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
        2. \u8eab\u4f53\u6240\u898b\uff08\u8171\u9ec4\u8272\u816b\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
        3. \u907a\u4f1d\u5b50\u691c\u67fb\u3067LDLR\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

          \u52d5\u8108\u786c\u5316\u4e88\u9632\u3092\u76ee\u7684\u3068\u3057\u305f\u7a4d\u6975\u7684\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n

            \n
          • \u30b9\u30bf\u30c1\u30f3<\/li>\n\n\n\n
          • \u30a8\u30bc\u30c1\u30df\u30d6<\/li>\n\n\n\n
          • PCSK9\u963b\u5bb3\u85ac<\/li>\n\n\n\n
          • LDL\u30a2\u30d5\u30a7\u30ec\u30fc\u30b7\u30b9\uff08\u91cd\u75c7\u4f8b\uff09<\/li>\n\n\n\n
          • \u751f\u6d3b\u7fd2\u6163\u6539\u5584\uff08\u98df\u4e8b\u30fb\u904b\u52d5\uff09<\/li>\n<\/ul>\n\n\n\n

            \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
              \n
            1. GeneReviews\u00ae: Familial Hypercholesterolemia<\/em><\/li>\n\n\n\n
            2. MedlinePlus Genetics: Familial hypercholesterolemia<\/em><\/li>\n\n\n\n
            3. OMIM: LDLR-related familial hypercholesterolemia<\/li>\n\n\n\n
            4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/li>\n<\/ol>\n\n\n\n

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