{"id":33600,"date":"2022-07-11T17:09:19","date_gmt":"2022-07-11T08:09:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33600"},"modified":"2026-04-28T13:00:20","modified_gmt":"2026-04-28T04:00:20","slug":"stuve-wiedemann-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/stuve-wiedemann-syndrome\/","title":{"rendered":"\u30b7\u30e5\u30ef\u30eb\u30c4\u30fb\u30e4\u30f3\u30da\u30eb\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30b7\u30e5\u30c8\u30a5\u30fc\u30f4\u30a7\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4\uff08St\u00fcve-Wiedemann Syndrome, SWS\uff09\u306f\u3001LIFR\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u9aa8\u306e\u767a\u80b2\u7570\u5e38\uff08\u9aa8\u7570\u5f62\u6210\uff09\u3084\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3001\u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u56f0\u96e3\u3084\u9ad8\u4f53\u6e29\u767a\u4f5c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u5e7c\u5c11\u671f\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30b1\u30a2\u304c\u751f\u5b58\u7387\u3092\u9ad8\u3081\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001SWS\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>LIFR\uff5cSt\u00fcve-Wiedemann Syndrome<\/p>\n\n\n\n<p><sup>\u203b\u304b\u3064\u3066\u300c\u30b7\u30e5\u30ef\u30eb\u30c4\u30fb\u30e4\u30f3\u30da\u30eb\u75c7\u5019\u7fa4 2 \u578b\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u305f\u5225\u306e\u75c5\u6c17\u306f\u3001\u73fe\u5728\u3067\u306f\u30b9\u30c8\u30a5\u30fc\u30d6\u30fb\u30a6\u30a3\u30fc\u30c9\u30e1\u30f3\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u8005\u306f\u3001\u30b7\u30e5\u30ef\u30eb\u30c4\u30fb\u30e4\u30f3\u30da\u30eb\u75c7\u5019\u7fa4 2 \u578b\u3068\u3044\u3046\u540d\u79f0\u3092\u4eca\u5f8c\u4f7f\u7528\u3057\u306a\u3044\u3088\u3046\u63a8\u5968\u3057\u3066\u3044\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30b7\u30e5\u30c8\u30a5\u30fc\u30f4\u30a7\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4\uff08St\u00fcve-Wiedemann Syndrome, SWS\uff09\u306f\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001\u9aa8\u306e\u767a\u80b2\u7570\u5e38\uff08\u9aa8\u7570\u5f62\u6210\uff09\u3068\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\uff08\u81ea\u5f8b\u795e\u7d4c\u5931\u8abf\u75c7\uff09\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u4e3b\u306a\u9aa8\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u4f4e\u8eab\u9577\u3001\u9577\u7ba1\u9aa8\u306e\u6e7e\u66f2\u3001\u6307\u3084\u8db3\u8dbe\u306e\u62d8\u7e2e\uff08\u30ab\u30f3\u30d7\u30c8\u30c0\u30af\u30c6\u30a3\u30ea\uff09\u3001\u95a2\u7bc0\u62d8\u7e2e\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u3001\u547c\u5438\u969c\u5bb3\u3001\u6442\u98df\u56f0\u96e3\u3001\u7570\u5e38\u306b\u9ad8\u3044\u4f53\u6e29\uff08\u9ad8\u4f53\u6e29\u767a\u4f5c\uff09\u306a\u3069\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u51fa\u751f\u6642\u304b\u3089\u8a8d\u3081\u3089\u308c\u3001\u65b0\u751f\u5150\u671f\u306b\u306f\u547c\u5438\u56f0\u96e3\u3084\u81ea\u5f8b\u795e\u7d4c\u306e\u4e0d\u5b89\u5b9a\u3055\u306b\u3088\u308a\u9ad8\u3044\u6b7b\u4ea1\u7387\u3092\u793a\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306f\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3057\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6574\u5f62\u5916\u79d1\u7684\u306a\u5408\u4f75\u75c7\u304c\u3088\u308a\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306f\u3001\u767d\u8840\u75c5\u963b\u5bb3\u56e0\u5b50\u53d7\u5bb9\u4f53\uff08Leukemia Inhibitory Factor Receptor, LIFR\uff09\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u9aa8\u306e\u518d\u69cb\u7bc9\u3084\u795e\u7d4c\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308bJAK\/STAT\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>SWS\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e16\u754c\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u8fd1\u89aa\u5a5a\u306e\u5272\u5408\u304c\u9ad8\u3044\u5730\u57df\u3067\u306f\u767a\u75c7\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u7279\u306b\u30a2\u30e9\u30d6\u9996\u9577\u56fd\u9023\u90a6\u3067\u306f\u51fa\u751f\u6642\u306e\u6709\u75c5\u7387\u304c10,000\u4eba\u306b0.5\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30e8\u30fc\u30ed\u30c3\u30d1\u3001\u30a2\u30d5\u30ea\u30ab\u3001\u4e2d\u6771\u3001\u30a2\u30e1\u30ea\u30ab\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u6c11\u65cf\u30b0\u30eb\u30fc\u30d7\u3067\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5f53\u521d\u306f\u81f4\u6b7b\u6027\u306e\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u9577\u671f\u751f\u5b58\u4f8b\u304c\u5897\u52a0\u3057\u3066\u304a\u308a\u3001\u75c5\u614b\u306e\u591a\u69d8\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>SWS\u306f\u3001LIFR\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b2c5\u67d3\u8272\u4f53\u77ed\u8155\uff085p13.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30b5\u30a4\u30c8\u30ab\u30a4\u30f3\u53d7\u5bb9\u4f53\u3067\u3042\u308bLIFR\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002LIFR\u306fJAK\/STAT3\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306b\u95a2\u4e0e\u3057\u3001\u9aa8\u306e\u6210\u9577\u3001\u795e\u7d4c\u767a\u9054\u3001\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002LIFR\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306f\u3053\u308c\u3089\u306e\u7d4c\u8def\u3092\u963b\u5bb3\u3057\u3001SWS\u306b\u307f\u3089\u308c\u308b\u9aa8\u304a\u3088\u3073\u81ea\u5f8b\u795e\u7d4c\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001LIFR\u306e\u7cd6\u9396\u4fee\u98fe\u7570\u5e38\u306b\u3088\u308b\u90e8\u5206\u7684\u306a\u6a5f\u80fd\u4fdd\u6301\u304c\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u75c5\u578b\u306e\u9055\u3044\u3092\u751f\u3080\u53ef\u80fd\u6027\u304c\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>SWS\u306e\u75c7\u72b6\u306f\u51fa\u751f\u6642\u304b\u3089\u73fe\u308c\u3001\u4e3b\u306b\u9aa8\u306e\u7570\u5e38\u3068\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u306e\u7570\u5e38\u306b\u306f\u3001\u9577\u7ba1\u9aa8\u306e\u6e7e\u66f2\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u30ab\u30f3\u30d7\u30c8\u30c0\u30af\u30c6\u30a3\u30ea\uff08\u6307\u3084\u8db3\u8dbe\u306e\u6c38\u4e45\u7684\u306a\u5c48\u66f2\uff09\u3001\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\uff08\u9aa8\u6e1b\u5c11\u75c7\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u9aa8\u306e\u5909\u5f62\u304c\u9032\u884c\u3057\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u3084\u81ea\u767a\u6027\u9aa8\u6298\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81ea\u5f8b\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u547c\u5438\u969c\u5bb3\uff08\u81ea\u5f8b\u795e\u7d4c\u306b\u3088\u308b\u547c\u5438\u8abf\u7bc0\u306e\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u6442\u98df\u56f0\u96e3\u3084\u8aa4\u56a5\u6027\u80ba\u708e\u306e\u30ea\u30b9\u30af<\/li>\n\n\n\n<li>\u9ad8\u4f53\u6e29\u767a\u4f5c\uff08\u751f\u547d\u3092\u8105\u304b\u3059\u3053\u3068\u3082\u3042\u308b\uff09<\/li>\n\n\n\n<li>\u75db\u899a\u920d\u9ebb\u3084\u53cd\u5c04\u6d88\u5931\uff08\u89d2\u819c\u53cd\u5c04\u3084\u819d\u84cb\u8171\u53cd\u5c04\u306e\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u89d2\u819c\u53cd\u5c04\u306e\u6d88\u5931\u306b\u3088\u308b\u89d2\u819c\u708e\u3084\u89d2\u819c\u6df7\u6fc1<\/li>\n\n\n\n<li>\u7570\u5e38\u767a\u6c57\uff08\u591a\u6c57\u307e\u305f\u306f\u9006\u8aac\u7684\u767a\u6c57\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>SWS\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306f\u3001\u985e\u4f3c\u75be\u60a3\uff08\u30ad\u30e3\u30f3\u30dd\u30e1\u30ea\u30c3\u30af\u7570\u5f62\u6210\u306a\u3069\uff09\u3068\u306e\u9451\u5225\u304c\u96e3\u3057\u304f\u3001\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u9577\u7ba1\u9aa8\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\u3001\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\u3001\u7f8a\u6c34\u904e\u5c11\u306a\u3069\u304c\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u5f8c\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u753b\u50cf\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u57fa\u3065\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X\u7dda\u691c\u67fb:<\/strong> \u9577\u7ba1\u9aa8\u306e\u6e7e\u66f2\u3001\u76ae\u8cea\u306e\u80a5\u539a\u3001\u9aa8\u7aef\u306e\u62e1\u5927\u3001\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u304c\u78ba\u8a8d\u3055\u308c\u308b<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb:<\/strong> \u65b0\u751f\u5150\u6b7b\u4ea1\u306e\u539f\u56e0\u3068\u306a\u308b\u80ba\u9ad8\u8840\u5727\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb:<\/strong> \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09\u307e\u305f\u306fLIFR\u306e\u6a19\u7684\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>SWS\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u5bfe\u75c7\u7642\u6cd5\u3068\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u65e9\u671f\u306e\u4ecb\u5165\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u7ba1\u7406\u304c\u751f\u5b58\u7387\u3068\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u65b0\u751f\u5150\u304a\u3088\u3073\u4e73\u5150\u306e\u7ba1\u7406<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u7ba1\u7406:<\/strong> \u9178\u7d20\u7642\u6cd5\u3001\u975e\u4fb5\u8972\u7684\u4eba\u5de5\u547c\u5438\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u4eba\u5de5\u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u7d4c\u9f3b\u80c3\u7ba1\u307e\u305f\u306f\u80c3\u763b\u3092\u7528\u3044\u305f\u6804\u990a\u88dc\u7d66<\/li>\n\n\n\n<li><strong>\u9ad8\u4f53\u6e29\u7ba1\u7406:<\/strong> \u51b7\u5374\u63aa\u7f6e\u3068\u89e3\u71b1\u5264\u306e\u4f7f\u7528<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7ba1\u7406:<\/strong> \u4eba\u5de5\u6d99\u6db2\u3001\u6d99\u70b9\u9589\u9396\u3001\u4fdd\u8b77\u30e1\u30ac\u30cd\u306e\u4f7f\u7528<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u6574\u5f62\u5916\u79d1\u7684\u7ba1\u7406<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88c5\u5177\u7642\u6cd5\u3068\u7406\u5b66\u7642\u6cd5:<\/strong> \u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632\u3068\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301<\/li>\n\n\n\n<li><strong>\u624b\u8853:<\/strong> \u9aa8\u5207\u308a\u8853\u3001Fassier-Duval\u30ed\u30c3\u30c9\u306b\u3088\u308b\u9aa8\u5909\u5f62\u306e\u77ef\u6b63\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u306e\u810a\u690e\u56fa\u5b9a\u8853<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u4e88\u9632:<\/strong> \u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30d3\u30bf\u30df\u30f3D\u88dc\u5145<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u304a\u3088\u3073\u81ea\u5f8b\u795e\u7d4c\u7ba1\u7406<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u6e29\u8abf\u7bc0:<\/strong> \u74b0\u5883\u7ba1\u7406\u306b\u3088\u308b\u9ad8\u4f53\u6e29\u767a\u4f5c\u306e\u4e88\u9632<\/li>\n\n\n\n<li><strong>\u75bc\u75db\u7ba1\u7406:<\/strong> \u75db\u899a\u920d\u9ebb\u306b\u3088\u308b\u5916\u50b7\u30ea\u30b9\u30af\u3078\u306e\u6ce8\u610f<\/li>\n\n\n\n<li><strong>\u9ebb\u9154\u7ba1\u7406:<\/strong> \u60aa\u6027\u9ad8\u71b1\u306e\u30ea\u30b9\u30af\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u6ce8\u610f\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>SWS\u306e\u65b0\u751f\u5150\u6b7b\u4ea1\u7387\u306f\u9ad8\u304f\u3001\u7279\u306b\u547c\u5438\u4e0d\u5168\u3084\u9ad8\u4f53\u6e29\u767a\u4f5c\u304c\u4e3b\u306a\u6b7b\u56e0\u3068\u306a\u308a\u307e\u3059\u30022\u6b73\u307e\u3067\u306e\u6b7b\u4ea1\u7387\u306f\u9ad8\u3044\u3082\u306e\u306e\u3001\u5e7c\u5150\u671f\u3092\u8d85\u3048\u3066\u751f\u5b58\u3057\u305f\u5834\u5408\u3001\u4e88\u5f8c\u306f\u6bd4\u8f03\u7684\u5b89\u5b9a\u3057\u307e\u3059\u3002\u6210\u9577\u306b\u4f34\u3044\u6574\u5f62\u5916\u79d1\u7684\u306a\u5408\u4f75\u75c7\u304c\u5897\u52a0\u3059\u308b\u305f\u3081\u3001\u7d99\u7d9a\u7684\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u8a8d\u77e5\u6a5f\u80fd\u306f\u901a\u5e38\u4fdd\u305f\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u751f\u5b58\u8005\u3067\u306f\u6b63\u5e38\u306a\u77e5\u7684\u767a\u9054\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u65e9\u671f\u4ecb\u5165\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u8a3a\u65ad\u304a\u3088\u3073\u7ba1\u7406\u304c\u6539\u5584\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u672c\u75be\u60a3\u306e\u5e0c\u5c11\u6027\u304b\u3089\u3001\u4eca\u5f8c\u3082\u7814\u7a76\u3068\u75c7\u4f8b\u5831\u544a\u306e\u84c4\u7a4d\u304c\u5fc5\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1159\/000444729\">Romeo Bertola, D., Honjo, R. S., &amp; Baratela, W. A. R. (2016). St\u00fcve-wiedemann syndrome: Update on clinical and genetic aspects. <em>Molecular Syndromology<\/em>, <em>7<\/em>(1), 12\u201318. https:\/\/doi.org\/10.1159\/000444729<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/1750-1172-9-34\">Mikelonis, D., Jorcyk, C.L., Tawara, K. <em>et al.<\/em> St\u00fcve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. <em>Orphanet J Rare Dis<\/em> <strong>9<\/strong>, 34 (2014). https:\/\/doi.org\/10.1186\/1750-1172-9-34<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/MD.0000000000041342\">Sherbiny, H. S., Alfaifi, J. A., Ahmed, A. O., Hassan, H., Abdullah, R., Alsuwat, S. A., Al-Juaid, R. M., Neyaz, A. A., Oshi, M. A. M., &amp; Kamal, N. M. (2025). St\u00fcve\u2013Wiedemann syndrome with a novel variant in the LIFR gene: A case report. <em>Medicine<\/em>, <em>104<\/em>(5), e41342. https:\/\/doi.org\/10.1097\/MD.0000000000041342<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-022-02323-8\">Warnier, H., Barrea, C., Bethlen, S. <em>et al.<\/em> Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review. <em>Orphanet J Rare Dis<\/em> <strong>17<\/strong>, 174 (2022). https:\/\/doi.org\/10.1186\/s13023-022-02323-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.compbiomed.2024.108797\">Paul, I., Roy, A., Chakrabarti, D., Nandi, C., &amp; Ray, S. (2024). Mutations in LIFR rewire the JAK\/STAT signaling pathway: A study unveiling mechanistic details of St\u00fcve-Wiedemann syndrome. <em>Computers in Biology and Medicine<\/em>, <em>179<\/em>, 108797. https:\/\/doi.org\/10.1016\/j.compbiomed.2024.108797<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b7\u30e5\u30c8\u30a5\u30fc\u30f4\u30a7\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4, St\u00fcve-Wiedemann Syndrome, SWS, LIFR\u907a\u4f1d\u5b50, \u9aa8\u7570\u5f62\u6210, \u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3, \u9ad8\u4f53\u6e29\u767a\u4f5c, \u547c\u5438\u969c\u5bb3, \u907a\u4f1d\u5b50\u5909\u7570, \u6574\u5f62\u5916\u79d1\u75be\u60a3, \u307e\u308c\u306a\u75be\u60a3, \u5c0f\u5150\u75be\u60a3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":34,"template":"page_gd.php","class_list":["post-33600","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33600","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33600\/revisions"}],"predecessor-version":[{"id":127713,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33600\/revisions\/127713"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33600"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}