{"id":59535,"date":"2023-08-14T11:20:12","date_gmt":"2023-08-14T02:20:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59535"},"modified":"2026-05-08T12:54:38","modified_gmt":"2026-05-08T03:54:38","slug":"primary-ciliary-dyskinesia","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia\/","title":{"rendered":"\u539f\u767a\u6027\u6bdb\u69d8\u4f53\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2"},"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>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u306f\u3001DNAI1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u904b\u52d5\u7dda\u6bdb\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u526f\u9f3b\u8154\u708e\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u7d0450%\u306e\u60a3\u8005\u306b\u306f\u5185\u81d3\u9006\u4f4d\uff08situs inversus\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u3084\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\u6e2c\u5b9a\u304c\u6709\u52b9\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u7ba1\u7406\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3067\u304d\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>DNAI1\uff5cPrimary Ciliary Dyskinesia, DNAI1-related<\/p>\n\n\n\n<p><sup>CILD1; Ciliary Dyskinesia, Primary, 1; Kartagener Syndrome; Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus; Dextrocardia-Bronchiectasis-Sinusitis Syndrome<\/sup><a href=\"https:\/\/www.uniprot.org\/diseases\/DI-00623\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/www.uniprot.org\/diseases\/DI-00623\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u904b\u52d5\u7dda\u6bdb\uff08\u52d5\u304f\u80fd\u529b\u3092\u6301\u3064\u7dda\u6bdb\uff09\u306e\u6a5f\u80fd\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002\u7dda\u6bdb\u306f\u6c17\u9053\u3001\u751f\u6b96\u5668\u5b98\u3001\u8133\u5ba4\u7cfb\u306a\u3069\u306e\u3055\u307e\u3056\u307e\u306a\u5668\u5b98\u306b\u5b58\u5728\u3057\u3001\u7279\u306b\u6c17\u9053\u3067\u306f\u7c98\u6db2\u3092\u52b9\u7387\u7684\u306b\u6392\u51fa\u3059\u308b\u5f79\u5272\uff08\u7c98\u6db2\u7dda\u6bdb\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\uff09\u3092\u62c5\u3063\u3066\u3044\u308b\u3002<em>DNAI1<\/em> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u7dda\u6bdb\u306e\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u30a2\u30fc\u30e0\uff08\u7d30\u80de\u5185\u306e\u30e2\u30fc\u30bf\u30fc\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e00\u90e8\uff09\u304c\u6b20\u640d\u3057\u3001\u305d\u306e\u7d50\u679c\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002\u3053\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u526f\u9f3b\u8154\u708e\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307b\u304b\u3001\u7d0450%\u306e\u60a3\u8005\u3067\u306f\u5185\u81d3\u304c\u5de6\u53f3\u9006\u306e\u4f4d\u7f6e\u306b\u914d\u7f6e\u3055\u308c\u308b<strong>\u5185\u81d3\u9006\u4f4d\uff08situs inversus\uff09<strong>\u304c\u307f\u3089\u308c\u308b\u3002\u3053\u306e\u5185\u81d3\u9006\u4f4d\u304c\u7279\u5fb4\u7684\u306b\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u30ab\u30eb\u30bf\u30b2\u30ca\u30fc\u75c7\u5019\u7fa4\uff08Kartagener syndrome\uff09\u3068\u547c\u3070\u308c\u308b\u3002PCD\u306f<\/strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f<\/strong>\u3092\u3068\u308a\u3001\u73fe\u5728\u307e\u3067\u306b50\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PCD\u306e\u6709\u75c5\u7387\u306f\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u304a\u3088\u305d4,000\u4eba\u306b1\u4eba\u304b\u308940,000\u4eba\u306b1\u4eba\u306e\u7bc4\u56f2\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u4e00\u822c\u7684\u306b\u306f10,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u767a\u75c7\u7387\u304c\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u306b\u3088\u308a\u904e\u5c0f\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u7279\u306b\u3001\u547c\u5438\u5668\u75be\u60a3\u306e\u4ed6\u306e\u75c5\u6c17\u3068\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3002\u4e00\u90e8\u306e\u96c6\u56e3\u3067\u306f\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u308a\u767a\u75c7\u7387\u304c\u9ad8\u304f\u3001\u4f8b\u3048\u3070\u30a4\u30ae\u30ea\u30b9\u306e\u30a2\u30b8\u30a2\u7cfb\u4f4f\u6c11\u3067\u306f\u7d042,200\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u3055\u308c\u308b\u3002\u65e5\u672c\u3067\u306f\u3001<em>DRC1<\/em> \u907a\u4f1d\u5b50\u306e\u30a8\u30af\u30bd\u30f31\u301c4\u304c\u6b20\u5931\u3059\u308b\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u304a\u308a\u3001\u65e5\u672c\u4eba\u96c6\u56e3\u306b\u304a\u3051\u308b\u5bfe\u7acb\u907a\u4f1d\u5b50\u983b\u5ea6\u306f\u7d040.0034\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>PCD\u306f\u3001\u904b\u52d5\u7dda\u6bdb\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u3092\u62c5\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002<em>DNAI1<\/em> \u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f539p13\u306b\u4f4d\u7f6e\u3057\u3001\u30c0\u30a4\u30cb\u30f3\u4e2d\u9593\u9396\u30bf\u30f3\u30d1\u30af\u8cea\uff08dynein axonemal intermediate chain 1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7dda\u6bdb\u306e\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u30a2\u30fc\u30e0\u306e\u6b63\u5e38\u306a\u5f62\u6210\u3068\u6a5f\u80fd\u306b\u5fc5\u8981\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001<em>DNAI1<\/em> \u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u304c\u8457\u3057\u304f\u969c\u5bb3\u3055\u308c\u308b\u3002PCD\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u767a\u75c7\u306b\u306f\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u75c5\u7684\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5fc5\u8981\u304c\u3042\u308b\u3002PCD\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308a\u3001\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u7d0470%\u306b\u304a\u3044\u3066\u3001\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\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>PCD\u306f\u3001\u7c98\u6db2\u7dda\u6bdb\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\u306e\u969c\u5bb3\u306b\u3088\u308a\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u75be\u60a3\u3092\u4e3b\u306a\u75c7\u72b6\u3068\u3059\u308b\u3002\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u306b<strong>\u65b0\u751f\u5150\u547c\u5438\u7aae\u8feb\u75c7\u5019\u7fa4<\/strong>\uff08\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u304c\u539f\u56e0\u4e0d\u660e\u306e\u547c\u5438\u56f0\u96e3\u3092\u793a\u3059\uff09\u3092\u5448\u3059\u308b\u5834\u5408\u304c\u3042\u308b\u3002\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u6162\u6027\u7684\u306a\u6e7f\u6027\u54b3\u55fd\uff08\u9577\u671f\u9593\u7d9a\u304f\u54b3\u3068\u7c98\u6db2\u5206\u6ccc\u306e\u5897\u52a0\uff09\u3001\u518d\u767a\u6027\u526f\u9f3b\u8154\u708e\u3084\u9f3b\u9589\u3001\u6162\u6027\u4e2d\u8033\u708e\u306b\u3088\u308b\u96e3\u8074\u306e\u30ea\u30b9\u30af\u3001\u7e70\u308a\u8fd4\u3059\u80ba\u611f\u67d3\u75c7\u306b\u4f34\u3046\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u3001\u7d0450%\u306e\u60a3\u8005\u306b\u307f\u3089\u308c\u308b\u5185\u81d3\u9006\u4f4d\u3001\u4e0d\u598a\uff08\u7537\u6027\u3067\u306f\u7cbe\u5b50\u306e\u904b\u52d5\u969c\u5bb3\u3001\u5973\u6027\u3067\u306f\u5375\u7ba1\u306e\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u53d7\u7cbe\u969c\u5bb3\uff09<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u307e\u308c\u3067\u306f\u3042\u308b\u304c\u3001\u6c34\u982d\u75c7\uff08\u8133\u810a\u9ac4\u6db2\u306e\u5faa\u74b0\u969c\u5bb3\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u7dda\u6bdb\u6a5f\u80fd\u306e\u5168\u8eab\u7684\u306a\u91cd\u8981\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\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>PCD\u306e\u8a3a\u65ad\u306f\u96e3\u3057\u304f\u3001\u5358\u72ec\u3067\u78ba\u5b9a\u8a3a\u65ad\u3067\u304d\u308b\u6a19\u6e96\u7684\u306a\u691c\u67fb\u304c\u5b58\u5728\u3057\u306a\u3044\u3002\u305d\u306e\u305f\u3081\u3001\u8907\u6570\u306e\u8a3a\u65ad\u624b\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3046\u306e\u304c\u4e00\u822c\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\uff08nNO\uff09\u6e2c\u5b9a<\/strong>\u306f\u3001PCD\u60a3\u8005\u3067\u306fnNO\u30ec\u30d9\u30eb\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u5229\u7528\u3055\u308c\u308b\u304c\u3001\u65e5\u672c\u3092\u542b\u3081\u305f\u4e00\u90e8\u306e\u56fd\u3067\u306f\u666e\u53ca\u3057\u3066\u3044\u306a\u3044\u3002<strong>\u9ad8\u901f\u30d3\u30c7\u30aa\u9855\u5fae\u93e1\u89e3\u6790<\/strong>\u3067\u306f\u3001\u9f3b\u3084\u6c17\u7ba1\u652f\u4e0a\u76ae\u304b\u3089\u63a1\u53d6\u3057\u305f\u7d30\u80de\u306e\u7dda\u6bdb\u904b\u52d5\u3092\u89b3\u5bdf\u3059\u308b\u3002\u900f\u904e\u578b\u96fb\u5b50\u9855\u5fae\u93e1\uff08TEM\uff09\u3092\u7528\u3044\u305f\u691c\u67fb\u3067\u306f\u3001\u30c0\u30a4\u30cb\u30f3\u30a2\u30fc\u30e0\u306e\u6b20\u640d\u306a\u3069\u3001\u7dda\u6bdb\u306e\u8d85\u5fae\u7d30\u69cb\u9020\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3067\u304d\u308b\u3002<strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\u3067\u306f\u3001PCD\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u304c\u5e83\u304f\u7528\u3044\u3089\u308c\u3001\u8a3a\u65ad\u306e\u7cbe\u5ea6\u304c\u5411\u4e0a\u3057\u3066\u3044\u308b\u3002<strong>\u514d\u75ab\u86cd\u5149\u9855\u5fae\u93e1\u691c\u67fb<\/strong>\u3067\u306f\u3001\u7dda\u6bdb\u306b\u767a\u73fe\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u3092\u53ef\u8996\u5316\u3067\u304d\u308b\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u306f\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306b\u91cd\u8981\u3067\u3042\u308b\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>PCD\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u304c\u3001\u75c7\u72b6\u306e\u8efd\u6e1b\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3092\u76ee\u7684\u3068\u3057\u305f\u7ba1\u7406\u304c\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>\u6c17\u9053\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\u7642\u6cd5<\/strong>\u3067\u306f\u3001\u5b9a\u671f\u7684\u306a\u80f8\u90e8\u7406\u5b66\u7642\u6cd5\u3084\u4f53\u4f4d\u6392\u75f0\u3092\u884c\u3044\u3001\u7c98\u6db2\u306e\u6392\u51fa\u3092\u4fc3\u9032\u3059\u308b\u3002<strong>\u6297\u751f\u7269\u8cea\u7642\u6cd5<\/strong>\u306f\u3001\u7d30\u83cc\u611f\u67d3\u3092\u8fc5\u901f\u306b\u6cbb\u7642\u3057\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u308b\u3002<strong>\u6c17\u7ba1\u652f\u62e1\u5f35\u85ac\u3084\u5438\u5165\u30b9\u30c6\u30ed\u30a4\u30c9<\/strong>\u306f\u3001\u6c17\u9053\u904e\u654f\u6027\u3092\u4f34\u3046\u60a3\u8005\u306b\u9069\u5fdc\u3055\u308c\u308b\u3002<strong>\u8074\u899a\u7ba1\u7406<\/strong>\u3068\u3057\u3066\u3001\u518d\u767a\u6027\u4e2d\u8033\u708e\u306b\u3088\u308b\u8074\u529b\u4f4e\u4e0b\u3092\u9632\u3050\u305f\u3081\u306b\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3068\u88dc\u52a9\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<strong>\u751f\u6b96\u88dc\u52a9\u6280\u8853<\/strong>\u306f\u3001\u7cbe\u5b50\u306e\u904b\u52d5\u969c\u5bb3\u3084\u5375\u7ba1\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u4e0d\u598a\u75c7\u306b\u5bfe\u3059\u308b\u9078\u629e\u80a2\u3068\u306a\u308b\u3002<strong>\u80ba\u79fb\u690d<\/strong>\u306f\u3001\u91cd\u5ea6\u306e\u547c\u5438\u4e0d\u5168\u3092\u4f34\u3046\u672b\u671f\u4f8b\u306b\u304a\u3044\u3066\u691c\u8a0e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u306e\u305f\u3081\u306b\u306f\u3001\u547c\u5438\u5668\u5c02\u9580\u533b\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u533b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306a\u3069\u306e\u5c02\u9580\u5bb6\u306b\u3088\u308b\u591a\u8077\u7a2e\u9023\u643a\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PCD\u306e\u4e88\u5f8c\u306f\u3001\u80ba\u75be\u60a3\u306e\u9032\u884c\u5ea6\u3084\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u6210\u4eba\u671f\u307e\u3067\u6bd4\u8f03\u7684\u826f\u597d\u306a\u751f\u6d3b\u3092\u7dad\u6301\u3067\u304d\u308b\u3002\u3057\u304b\u3057\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u9032\u884c\u6027\u306e\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306b\u3088\u308a\u3001\u80ba\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u80ba\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u3002\u4e00\u822c\u96c6\u56e3\u3068\u6bd4\u3079\u3066\u5bff\u547d\u306f\u77ed\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u7ba1\u7406\u306e\u8cea\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u308b\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\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\/10.1016\/j.prrv.2015.09.001\">Horani, A., Ferkol, T. W., Dutcher, S. K., &amp; Brody, S. L. (2016). Genetics and biology of primary ciliary dyskinesia. <em>Paediatric Respiratory Reviews<\/em>, <em>18<\/em>, 18\u201324. https:\/\/doi.org\/10.1016\/j.prrv.2015.09.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms22168821\">Stevanovic, N., Skakic, A., Minic, P., Sovtic, A., Stojiljkovic, M., Pavlovic, S., &amp; Andjelkovic, M. (2021). Identification and classification of novel genetic variants: En route to the diagnosis of primary ciliary dyskinesia. <em>International Journal of Molecular Sciences<\/em>, <em>22<\/em>(16), 8821. https:\/\/doi.org\/10.3390\/ijms22168821<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/cge.14640\">Hijikata, M., Morimoto, K., Ito, M., Wakabayashi, K., Miyabayashi, A., Yamada, H., &amp; Keicho, N. (2025). Genetic variants supporting the diagnosis of primary ciliary dyskinesia in japan. <em>Clinical Genetics<\/em>, <em>107<\/em>(2), 219\u2013223. https:\/\/doi.org\/10.1111\/cge.14640<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12920-021-01084-w\">Wheway, G., Thomas, N.S., Carroll, M. <em>et al.<\/em> Whole genome sequencing in the diagnosis of primary ciliary dyskinesia. <em>BMC Med Genomics<\/em> <strong>14<\/strong>, 234 (2021). https:\/\/doi.org\/10.1186\/s12920-021-01084-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms22158272\">Brennan, S. K., Ferkol, T. W., &amp; Davis, S. D. (2021). Emerging genotype-phenotype relationships in primary ciliary dyskinesia. <em>International Journal of Molecular Sciences<\/em>, <em>22<\/em>(15), 8272. https:\/\/doi.org\/10.3390\/ijms22158272<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s10038-023-01142-4\">Xu, Y., Feng, G., Yano, T. <em>et al.<\/em> Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. <em>J Hum Genet<\/em> <strong>68<\/strong>, 455\u2013461 (2023). https:\/\/doi.org\/10.1038\/s10038-023-01142-4<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59535","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\/59535","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59535\/revisions"}],"predecessor-version":[{"id":128092,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59535\/revisions\/128092"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59535"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}