{"id":33796,"date":"2022-07-12T13:43:56","date_gmt":"2022-07-12T04:43:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33796"},"modified":"2026-04-28T13:44:24","modified_gmt":"2026-04-28T04:44:24","slug":"alstrom-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alstrom-syndrome\/","title":{"rendered":"\u30a2\u30eb\u30b9\u30c8\u30ec\u30fc\u30e0\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>\u30a2\u30eb\u30b9\u30c8\u30ed\u30fc\u30e0\u75c7\u5019\u7fa4\uff08Alstr\u00f6m\u75c7\u5019\u7fa4\uff09\u306f\u3001\u76ee\u30fb\u8033\u30fb\u5fc3\u81d3\u30fb\u4ee3\u8b1d\u306a\u3069\u4f53\u306e\u591a\u304f\u306e\u5668\u5b98\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u6975\u3081\u3066\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u8996\u529b\u3084\u8074\u529b\u306e\u4f4e\u4e0b\u3001\u7cd6\u5c3f\u75c5\u3001\u5fc3\u7b4b\u75c7\u306a\u3069\u591a\u69d8\u306a\u75c7\u72b6\u304c\u73fe\u308c\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3084\u6cbb\u7642\u30fb\u7ba1\u7406\u65b9\u6cd5\u3092\u5206\u304b\u308a\u3084\u3059\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>ALMS1\uff5cAlstr\u00f6m Syndrome<\/p>\n\n\n\n<p><sup>AS; Alstr\u00f6m Syndrome<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>Alstr\u00f6m\u75c7\u5019\u7fa4\uff08\u82f1\u8a9e\u3067Alstr\u00f6m Syndrome\u3001\u7565\u3057\u3066AS\uff09\u306f\u30011959\u5e74\u306b\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u306e\u533b\u5e2b\u30ab\u30fc\u30eb\u30fb\u30d8\u30f3\u30ea\u30fc\u30fb\u30a2\u30eb\u30b9\u30c8\u30ed\u30fc\u30e0\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306fALMS1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\uff08\u907a\u4f1d\u5b50\u60c5\u5831\u306e\u7570\u5e38\uff09\u304c\u8d77\u304d\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u907a\u4f1d\u306e\u4ed5\u65b9\u306f\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u547c\u3070\u308c\u3001\u5b50\u3069\u3082\u304c\u3053\u306e\u75c5\u6c17\u306b\u306a\u308b\u305f\u3081\u306b\u306f\u3001\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304c\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002 Alstr\u00f6m\u75c7\u5019\u7fa4\u306f\u76ee\u3084\u8033\u3001\u5fc3\u81d3\u3001\u4ee3\u8b1d\uff08\u80a5\u6e80\u3084\u7cd6\u5c3f\u75c5\uff09\u306a\u3069\u3001\u4f53\u306e\u3055\u307e\u3056\u307e\u306a\u5668\u5b98\u306b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u75c7\u72b6\u304c\u8907\u96d1\u3067\u591a\u304f\u306e\u5668\u5b98\u306b\u95a2\u4fc2\u3059\u308b\u305f\u3081\u3001\u5225\u306e\u75c5\u6c17\uff08Bardet-Biedl\u75c7\u5019\u7fa4\u3084\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\u306a\u3069\uff09\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>Alstr\u00f6m\u75c7\u5019\u7fa4\u306f\u4e16\u754c\u4e2d\u3067\u3082\u975e\u5e38\u306b\u73cd\u3057\u304f\u3001\u305d\u306e\u983b\u5ea6\u306f100\u4e07\u4eba\u3042\u305f\u308a1\uff5e9\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u5973\u5dee\u306f\u7279\u306b\u3042\u308a\u307e\u305b\u3093\u3002\u8fd1\u89aa\u5a5a\u304c\u591a\u3044\u5730\u57df\u3067\u306f\u767a\u75c7\u7387\u304c\u9ad8\u307e\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f1959\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3066\u4ee5\u6765\u3001\u4e16\u754c\u3067500\u4f8b\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30b5\u30a6\u30b8\u30a2\u30e9\u30d3\u30a2\u3067\u306f\u73fe\u5728\u307e\u3067\u306b5\u4f8b\u307b\u3069\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u306e\u305f\u3081\u3001Alstr\u00f6m\u75c7\u5019\u7fa4\u306f\u300c\u5e0c\u5c11\u75be\u60a3\u300d\uff08\u30aa\u30fc\u30d5\u30a1\u30f3\u75be\u60a3\u3068\u3082\u547c\u3070\u308c\u3001\u60a3\u8005\u6570\u304c\u5c11\u306a\u3044\u305f\u3081\u7814\u7a76\u3084\u6cbb\u7642\u304c\u9032\u307f\u306b\u304f\u3044\u75c5\u6c17\uff09\u306b\u5206\u985e\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>Alstr\u00f6m\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u30d2\u30c8\u306e\u7b2c2\u756a\u67d3\u8272\u4f53\uff082p13.1\u3068\u3044\u3046\u4f4d\u7f6e\uff09\u306b\u3042\u308bALMS1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u3059\u3002ALMS1\u907a\u4f1d\u5b50\u306b\u306f23\u500b\u306e\u30a8\u30af\u30bd\u30f3\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u5206\uff09\u304c\u3042\u308a\u3001ALMS1\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3044\u30464,169\u500b\u306e\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u5927\u304d\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7d30\u80de\u5185\u306e\u300c\u4e2d\u5fc3\u4f53\u300d\u3084\u300c\u57fa\u5e95\u5c0f\u4f53\u300d\u3068\u547c\u3070\u308c\u308b\u5834\u6240\u306b\u5b58\u5728\u3057\u3001\u300c\u4e00\u6b21\u7e4a\u6bdb\u300d\uff08\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b\u30a2\u30f3\u30c6\u30ca\u306e\u3088\u3046\u306a\u69cb\u9020\uff09\u306e\u5f62\u6210\u3084\u7dad\u6301\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u6b21\u7e4a\u6bdb\u306f\u7d30\u80de\u540c\u58eb\u306e\u60c5\u5831\u4f1d\u9054\u3084\u611f\u899a\u6a5f\u80fd\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002 ALMS1\u907a\u4f1d\u5b50\u306b\u306f200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u300c\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u300d\u3084\u300c\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u300d\u3068\u3044\u3063\u3066\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b63\u3057\u3044\u5408\u6210\u3092\u59a8\u3052\u308b\u5909\u7570\u3067\u3059\u3002\u7279\u306b8\u756a\u76ee\u300110\u756a\u76ee\u300116\u756a\u76ee\u306e\u30a8\u30af\u30bd\u30f3\u306b\u306f\u5909\u7570\u304c\u96c6\u4e2d\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u7a2e\u985e\u306f\u5730\u57df\u3084\u5bb6\u65cf\u306b\u3088\u3063\u3066\u69d8\u3005\u3067\u3042\u308a\u3001\u5909\u7570\u306e\u5834\u6240\u3068\u75c7\u72b6\u306e\u91cd\u3055\u3068\u306e\u660e\u78ba\u306a\u95a2\u4fc2\u306f\u307e\u3060\u3088\u304f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\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>Alstr\u00f6m\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u5168\u8eab\u306b\u308f\u305f\u308a\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u9032\u884c\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u540c\u3058\u5bb6\u65cf\u5185\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u306f\u4e73\u5150\u671f\u3084\u5e7c\u5c11\u671f\u304b\u3089\u8996\u529b\u4f4e\u4e0b\uff08\u7db2\u819c\u5909\u6027\u75c7\uff09\u3001\u80a5\u6e80\u3001\u8074\u529b\u4f4e\u4e0b\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\uff08\u5fc3\u7b4b\u75c7\uff09\u3092\u8d77\u3053\u3057\u59cb\u3081\u307e\u3059\u3002\u7279\u306b\u8996\u529b\u4f4e\u4e0b\u306f\u65e9\u671f\u304b\u3089\u9032\u884c\u3057\u300116\u6b73\u307e\u3067\u306b\u60a3\u8005\u306e\u7d0490\uff05\u304c\u8996\u529b\u3092\u5931\u3044\u307e\u3059\u3002\u8074\u529b\u3082\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u60a3\u8005\u306e\u7d0470\uff05\u304c10\u6b73\u306b\u306a\u308b\u307e\u3067\u306b\u96e3\u8074\u3068\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u591a\u304f\u306e\u5834\u5408\u30012\u578b\u7cd6\u5c3f\u75c5\u3084\u9ad8\u8102\u8840\u75c7\uff08\u8840\u4e2d\u306e\u8102\u80aa\u304c\u5897\u3048\u308b\u75c5\u6c17\uff09\u3001\u8102\u80aa\u809d\u3001\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\uff08\u751f\u6b96\u6a5f\u80fd\u306e\u969c\u5bb3\uff09\u306a\u3069\u3001\u4ee3\u8b1d\u3084\u30db\u30eb\u30e2\u30f3\u306e\u7570\u5e38\u3082\u751f\u3058\u307e\u3059\u3002\u601d\u6625\u671f\u4ee5\u964d\u306f\u809d\u81d3\u3084\u814e\u81d3\u3001\u5fc3\u81d3\u3001\u80ba\u306a\u3069\u306e\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u60aa\u5316\u3059\u308b\u307b\u304b\u3001\u810a\u67f1\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u306e\u3086\u304c\u307f\uff09\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002 \u3053\u306e\u3088\u3046\u306b\u75c7\u72b6\u304c\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u304b\u3089\u3001\u907a\u4f1d\u7684\u8981\u56e0\u3084\u74b0\u5883\u306e\u5f71\u97ff\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>Alstr\u00f6m\u75c7\u5019\u7fa4\u306f\u591a\u304f\u306e\u5668\u5b98\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u307e\u305f\u4ed6\u306e\u4f3c\u305f\u75c5\u6c17\uff08Bardet-Biedl\u75c7\u5019\u7fa4\u3001\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u6027\u9ed2\u5185\u969c\u306a\u3069\uff09\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002\u78ba\u5b9f\u306a\u8a3a\u65ad\u306b\u306f\u3001ALMS1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u691c\u67fb\uff08DNA\u691c\u67fb\uff09\u304c\u6700\u3082\u6709\u52b9\u3067\u3059\u3002\u5bb6\u65cf\u306e\u4e2d\u30671\u4eba\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u5144\u5f1f\u3084\u8fd1\u89aa\u8005\u3082\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3084\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u7684\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u598a\u5a20\u524d\uff08\u7740\u5e8a\u524d\u8a3a\u65ad\uff09\u3084\u598a\u5a20\u4e2d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306b\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5bb6\u65cf\u8a08\u753b\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308dAlstr\u00f6m\u75c7\u5019\u7fa4\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u3066\u5408\u4f75\u75c7\u3092\u9632\u3050\u3053\u3068\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u5fc3\u81d3\u5c02\u9580\u533b\u3001\u5185\u5206\u6ccc\u5c02\u9580\u533b\uff08\u30db\u30eb\u30e2\u30f3\u3084\u7cd6\u5c3f\u75c5\u306e\u5c02\u9580\u533b\uff09\u3001\u8074\u899a\u5c02\u9580\u533b\u3001\u773c\u79d1\u533b\u3001\u6804\u990a\u58eb\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u6cbb\u7642\u306b\u3042\u305f\u308a\u307e\u3059\u3002\u96e3\u8074\u306b\u306f\u4eba\u5de5\u5185\u8033\uff08\u97f3\u3092\u96fb\u6c17\u4fe1\u53f7\u306b\u5909\u3048\u3066\u805e\u3053\u3048\u308b\u3088\u3046\u306b\u3059\u308b\u6a5f\u5668\uff09\u3001\u8996\u529b\u4f4e\u4e0b\u306b\u306f\u8996\u899a\u88dc\u52a9\u5668\u5177\u3092\u4f7f\u3044\u307e\u3059\u3002\u5fc3\u81d3\u75c5\uff08\u5fc3\u7b4b\u75c7\uff09\u306f\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3068\u85ac\u3067\u7ba1\u7406\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u80a5\u6e80\u3084\u7cd6\u5c3f\u75c5\u3001\u9ad8\u8102\u8840\u75c7\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u3001\u98df\u751f\u6d3b\u306e\u6539\u5584\u3084\u904b\u52d5\u304c\u5927\u5207\u3067\u3059\u3002\u904b\u52d5\u7642\u6cd5\u3084\u85ac\u7269\u6cbb\u7642\u3067\u7cd6\u5c3f\u75c5\u3084\u5fc3\u81d3\u75c5\u306e\u30ea\u30b9\u30af\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u810a\u67f1\u5074\u5f2f\u75c7\u306b\u306f\u7406\u5b66\u7642\u6cd5\u306a\u3069\u306e\u9069\u5207\u306a\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002 \u65e9\u671f\u306b\u907a\u4f1d\u5b50\u8a3a\u65ad\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>Alstr\u00f6m\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\uff08\u5c06\u6765\u306e\u898b\u901a\u3057\uff09\u306f\u75c7\u72b6\u306e\u591a\u69d8\u3055\u306e\u305f\u3081\u4eba\u305d\u308c\u305e\u308c\u3067\u3059\u3002\u7279\u306b\u5fc3\u7b4b\u75c7\u306b\u3088\u308b\u5fc3\u4e0d\u5168\u304c\u4e3b\u306a\u6b7b\u4ea1\u539f\u56e0\u3067\u3042\u308a\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u809d\u81d3\u3084\u814e\u81d3\u3001\u80ba\u306a\u3069\u306e\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u60aa\u5316\u3057\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u75c7\u72b6\u3092\u7dcf\u5408\u7684\u306b\u7ba1\u7406\u3059\u308b\u533b\u7642\u304c\u9032\u6b69\u3057\u305f\u305f\u3081\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u306f\u6539\u5584\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u9032\u884c\u6027\u306e\u969c\u5bb3\u306b\u3088\u308a\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u306f\u4f9d\u7136\u3068\u3057\u3066\u5927\u304d\u3044\u3067\u3059\u3002 \u65e9\u671f\u767a\u898b\u3068\u7dcf\u5408\u7684\u306a\u6cbb\u7642\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u306e\u5c06\u6765\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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\/10.1002\/mgg3.2314\">Abosabie, S. A. S., Abosabie, S. A., Alfaifi, J., Alqahtani, Y. A., Shati, A. A., Alotaibi, N. A., Alghamdi, O. A., Alotaibi, G. N., Baabdullah, A. A., Kabrah, L. K., Kamal, N. M., Oshi, M. A. M., &amp; Abdallah, E. A. A. (2024). Unraveling Alstr\u00f6m syndrome: Homozygous mutation c.2729C&gt;G in <em>ALMS1<\/em> gene across an extended family. <em>Molecular Genetics &amp; Genomic Medicine<\/em>, <em>12<\/em>(1), e2314. https:\/\/doi.org\/10.1002\/mgg3.2314<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12887-024-04949-y\">Hu, M., Chen, S., Wu, J. <em>et al.<\/em> Whole-exome sequencing revealed a novel mutation of the <em>ALMS1<\/em> gene in a Chinese family with Alstr\u00f6m syndrome: a case report. <em>BMC Pediatr<\/em> <strong>24<\/strong>, 494 (2024). https:\/\/doi.org\/10.1186\/s12887-024-04949-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.molmet.2024.101933\">McKay, E. J., Luijten, I., Weng, X., Martinez De Morentin, P. B., De Frutos Gonz\u00e1lez, E., Gao, Z., Kolonin, M. G., Heisler, L. K., &amp; Semple, R. K. (2024). Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alstr\u00f6m syndrome. <em>Molecular Metabolism<\/em>, <em>84<\/em>, 101933. https:\/\/doi.org\/10.1016\/j.molmet.2024.101933<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.gene.2024.148827\">Xu, H., Wang, Z., Sa, S., Yang, Y., Zhang, X., &amp; Li, D. (2024). Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alstr\u00f6m syndrome by whole genome sequencing. <em>Gene<\/em>, <em>929<\/em>, 148827. https:\/\/doi.org\/10.1016\/j.gene.2024.148827<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.bjorl.2024.101402\">Queiroz, I. C. D., Carasek, N., Ferreira, L. C. V., Oliveira, L. A. T., Correia, F. M., Elias, T. G. A., &amp; Bahmad, F. (2024). New variants of ALMS1 gene and familial Alstr\u00f6m syndrome case series. <em>Brazilian Journal of Otorhinolaryngology<\/em>, <em>90<\/em>(3), 101402. https:\/\/doi.org\/10.1016\/j.bjorl.2024.101402<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12020-021-02643-y\">Dassie, F., Favaretto, F., Bettini, S. <em>et al.<\/em> Alstr\u00f6m syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity. <em>Endocrine<\/em> <strong>71<\/strong>, 618\u2013625 (2021). https:\/\/doi.org\/10.1007\/s12020-021-02643-y<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":25,"template":"page_gd.php","class_list":["post-33796","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\/33796","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\/33796\/revisions"}],"predecessor-version":[{"id":127739,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33796\/revisions\/127739"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33796"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}