{"id":122089,"date":"2026-01-08T17:12:34","date_gmt":"2026-01-08T08:12:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122089"},"modified":"2026-03-03T12:55:39","modified_gmt":"2026-03-03T03:55:39","slug":"stuve-wiedemann-syndrome-lifr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome-lifr\/","title":{"rendered":"Stuve-Wiedemann\u75c7\u5019\u7fa4"},"content":{"rendered":"\n

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

Stuve-Wiedemann\u75c7\u5019\u7fa4\uff08SWS\uff09\u306f\u3001\u91cd\u5ea6\u306e\u9aa8\u683c\u5f62\u6210\u7570\u5e38\u3068\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u9577\u7ba1\u9aa8\u306e\u5f4e\u66f2\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u547c\u5438\u969c\u5bb3\u3001\u4f53\u6e29\u8abf\u7bc0\u7570\u5e38\u3001\u6442\u98df\u969c\u5bb3\u306a\u3069\u3092\u5448\u3057\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u7be4\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3059\u3002\u591a\u304f\u306e\u75c7\u4f8b\u3067\u4e73\u5150\u671f\u65e9\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u91cd\u75c7\u578b\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8fd1\u5e74\u3067\u306f\u533b\u7642\u7ba1\u7406\u306e\u9032\u6b69\u306b\u3088\u308a\u5c0f\u5150\u671f\u4ee5\u964d\u307e\u3067\u751f\u5b58\u3059\u308b\u8efd\u75c7\u4f8b\u306e\u5831\u544a\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75c7\u306f\u30b5\u30a4\u30c8\u30ab\u30a4\u30f3\u53d7\u5bb9\u4f53\u3067\u3042\u308bLIFR\uff08Leukemia Inhibitory Factor Receptor\uff09\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u6b20\u640d\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u9aa8\u767a\u80b2\u3001\u795e\u7d4c\u7cfb\u3001\u81ea\u5f8b\u795e\u7d4c\u7cfb\u3001\u547c\u5438\u5236\u5fa1\u306a\u3069\u591a\u7cfb\u7d71\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

Stuve-Wiedemann\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306f\u6570\u767e\u4f8b\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u8fd1\u89aa\u5a5a\u304c\u591a\u3044\u5730\u57df\u3067\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f LIFR\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570<\/strong> \u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002LIFR\u306fgp130\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u53d7\u5bb9\u4f53\u3067\u3001\u9aa8\u6210\u9577\u3001\u795e\u7d4c\u7d30\u80de\u751f\u5b58\u3001\u81ea\u5f8b\u795e\u7d4c\u5236\u5fa1\u306a\u3069\u306b\u91cd\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u62c5\u3044\u307e\u3059\u3002LIFR\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u9aa8\u7aef\u8edf\u9aa8\u6210\u9577\u306e\u7570\u5e38\u3001\u795e\u7d4c\u652f\u914d\u7570\u5e38\u3001\u81ea\u5f8b\u795e\u7d4c\u4e0d\u5168\u304c\u751f\u3058\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u203b HSPG2\u907a\u4f1d\u5b50<\/strong> \u306fSchwartz-Jampel\u75c7\u5019\u7fa4\u306a\u3069\u306e\u9451\u5225\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u672c\u75c7\u3068\u306e\u81e8\u5e8a\u9451\u5225\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u5f53\u9662\u306e\u691c\u67fb\u5bfe\u8c61\u3068\u3057\u3066\u6709\u7528\u3067\u3059\u3002<\/p>\n\n\n\n

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

\u9aa8\u683c\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u9577\u7ba1\u9aa8\u306e\u5f4e\u66f2\uff08bowing\uff09<\/li>\n\n\n\n
  • \u95a2\u7bc0\u62d8\u7e2e<\/li>\n\n\n\n
  • \u4f4e\u8eab\u9577<\/li>\n<\/ul>\n\n\n\n

    \u795e\u7d4c\u30fb\u81ea\u5f8b\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n
      \n
    • \u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\uff08\u9ad8\u4f53\u6e29\u30fb\u4f4e\u4f53\u6e29\uff09<\/li>\n\n\n\n
    • \u767a\u6c57\u7570\u5e38<\/li>\n\n\n\n
    • \u547c\u5438\u4e0d\u5b89\u5b9a<\/li>\n\n\n\n
    • \u5fc3\u62cd\u5909\u52d5\u7570\u5e38<\/li>\n<\/ul>\n\n\n\n

      \u6d88\u5316\u5668\u30fb\u6804\u990a<\/strong><\/h3>\n\n\n\n
        \n
      • \u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n
      • \u6804\u990a\u4e0d\u826f<\/li>\n\n\n\n
      • \u80c3\u98df\u9053\u9006\u6d41<\/li>\n<\/ul>\n\n\n\n

        \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
          \n
        • \u6613\u611f\u67d3\u6027<\/li>\n\n\n\n
        • \u547c\u5438\u4e0d\u5168<\/li>\n\n\n\n
        • \u65b0\u751f\u5150\u671f\u306e\u81f4\u6b7b\u7387\u304c\u9ad8\u3044<\/li>\n<\/ul>\n\n\n\n

          \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
            \n
          1. \u81e8\u5e8a\u6240\u898b\uff08\u9aa8\u5f4e\u66f2\uff0b\u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3\uff09<\/li>\n\n\n\n
          2. \u753b\u50cf\u691c\u67fb\uff08X\u7dda\u3067\u9577\u7ba1\u9aa8\u5f4e\u66f2\uff09<\/li>\n\n\n\n
          3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08LIFR\u89e3\u6790\uff09<\/li>\n\n\n\n
          4. \u9451\u5225\u306e\u305f\u3081HSPG2\u89e3\u6790<\/li>\n<\/ol>\n\n\n\n

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

            \u73fe\u6642\u70b9\u3067\u6839\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

              \n
            • \u547c\u5438\u7ba1\u7406\uff08\u4eba\u5de5\u547c\u5438\u7ba1\u7406\u3092\u542b\u3080\uff09<\/li>\n\n\n\n
            • \u4f53\u6e29\u7ba1\u7406<\/li>\n\n\n\n
            • \u6804\u990a\u7ba1\u7406\uff08\u7d4c\u7ba1\u6804\u990a\u306a\u3069\uff09<\/li>\n\n\n\n
            • \u611f\u67d3\u4e88\u9632<\/li>\n\n\n\n
            • \u6574\u5f62\u5916\u79d1\u7684\u30d5\u30a9\u30ed\u30fc<\/li>\n\n\n\n
            • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n

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

              St\u00fcve-Wiedemann syndrome \u2014 Orphanet Rare Disease Database. (Orphanet)
              Dagoneau N et al. Null leukemia inhibitory factor receptor (LIFR) mutations cause St\u00fcve-Wiedemann syndrome. Nat Genet. 2004. (Nature Genetics)
              St\u00fcve-Wiedemann Syndrome \u2014 GeneReviews, PubMed Central. (PMC)
              Schwartz-Jampel syndrome \u2014 HSPG2 gene overview, Malacards. (malacards.org)<\/p>\n\n\n\n

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