{"id":33652,"date":"2022-07-11T17:36:13","date_gmt":"2022-07-11T08:36:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33652"},"modified":"2026-04-28T13:15:09","modified_gmt":"2026-04-28T04:15:09","slug":"primary-ciliary-dyskinesia-dnai1-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnai1-related\/","title":{"rendered":"\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAI1\u95a2\u9023\uff09"},"content":{"rendered":"\n<div style=\"height:33px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u306f\u3001\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u3063\u3066\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u5185\u81d3\u9006\u4f4d\u3001\u4e0d\u598a\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7279\u306bDNAI1\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u306ePCD\u306f\u3001\u5916\u8155\u30c0\u30a4\u30cb\u30f3\u306e\u69cb\u9020\u7570\u5e38\u306b\u3088\u308a\u7dda\u6bdb\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001PCD\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u7ba1\u7406\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>DNAI1\uff5cPrimary Ciliary Dyskinesia (DNAI1-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u306f\u3001\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u7dda\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u306e\u904b\u52d5\u6a5f\u80fd\u306b\u7570\u5e38\u3092\u304d\u305f\u3059\u3053\u3068\u3067\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u5185\u81d3\u306e\u5de6\u53f3\u9006\u4f4d\uff08\u81d3\u5668\u306e\u914d\u7f6e\u7570\u5e38\uff09\u3001\u4e0d\u598a\u75c7\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7dda\u6bdb\u3068\u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b\u5b58\u5728\u3059\u308b\u6975\u3081\u3066\u7d30\u3044\u6bdb\u72b6\u306e\u69cb\u9020\u3067\u3001\u6c17\u9053\u5185\u306e\u7570\u7269\u3092\u6392\u9664\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u672c\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u53d6\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306fX\u67d3\u8272\u4f53\u9023\u9396\u6027\uff08\u6027\u67d3\u8272\u4f53\u306eX\u306b\u5b58\u5728\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u3067\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>PCD\u3067\u306f\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u6a5f\u80fd\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u7570\u7269\u3092\u6392\u9664\u3059\u308b\u300c\u7c98\u6db2\u7dda\u6bdb\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\u300d\u304c\u6a5f\u80fd\u305b\u305a\u3001\u6162\u6027\u7684\u306a\u80ba\u75be\u60a3\u3084\u7e70\u308a\u8fd4\u3059\u611f\u67d3\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u60a3\u8005\u306e\u7d0450\uff05\u306f\u300c\u5185\u81d3\u9006\u4f4d\uff08situs inversus totalis\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75c7\u72b6\u3092\u5448\u3057\u3001\u3053\u308c\u306f\u6b63\u5e38\u3068\u306f\u93e1\u50cf\u7684\u306b\u5185\u81d3\u304c\u914d\u7f6e\u3055\u308c\u308b\u73fe\u8c61\u3067\u3059\u3002\u3053\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3001\u300c\u30ab\u30eb\u30bf\u30b2\u30ca\u30fc\uff08Kartagener\uff09\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u672c\u75be\u60a3\u306f\u3001DNAI1\uff08\u30c0\u30a4\u30cb\u30f3\u30a2\u30af\u30bd\u30cd\u30de\u30eb\u4e2d\u9593\u93961\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\uff09\u3092\u542b\u308050\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002DNAI1\u306f\u7dda\u6bdb\u3092\u52d5\u304b\u3059\u305f\u3081\u306e\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u7570\u5e38\u306f\u5916\u8155\u30c0\u30a4\u30cb\u30f3\uff08\u7dda\u6bdb\u306e\u904b\u52d5\u306b\u5fc5\u8981\u306a\u5206\u5b50\u30e2\u30fc\u30bf\u30fc\uff09\u306e\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PCD\u306e\u767a\u75c7\u983b\u5ea6\u306f\u3001\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u3084\u5730\u57df\u3054\u3068\u306e\u907a\u4f1d\u7684\u80cc\u666f\u306e\u9055\u3044\u306b\u3088\u308a\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u63a8\u5b9a\u3067\u306f\u3001\u65b0\u751f\u51501\u4e07\u4eba\u304b\u30893\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308a\u3001\u3055\u3089\u306b\u9ad8\u3044\u983b\u5ea6\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u30022024\u5e74\u306e\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u306b\u3088\u308b\u3068\u3001\u5730\u57df\u3054\u3068\u306e\u63a8\u5b9a\u767a\u75c7\u7387\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e5\u672c<\/strong>\uff1a1\/16,400<\/li>\n\n\n\n<li><strong>\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3<\/strong>\uff1a1\/10,000<\/li>\n\n\n\n<li><strong>\u30a4\u30ae\u30ea\u30b9\u5728\u4f4f\u306e\u5357\u30a2\u30b8\u30a2\u7cfb<\/strong>\uff1a1\/2,265<\/li>\n\n\n\n<li><strong>\u30a4\u30b9\u30e9\u30a8\u30eb<\/strong>\uff1a1\/54,000<\/li>\n<\/ul>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u6b27\u5dde\u306e\u60a3\u8005\u767b\u9332\u30c7\u30fc\u30bf\u3067\u306f\u3001\u5b50\u3069\u3082\u306710\u4e07\u4eba\u3042\u305f\u308a3\uff5e7\u4eba\u3001\u5927\u4eba\u306710\u4e07\u4eba\u3042\u305f\u308a0.2\uff5e6\u4eba\u3068\u5831\u544a\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>PCD\u306f\u3001\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\u307e\u3059\u3002\u7279\u306b<strong>DNAI1\u907a\u4f1d\u5b50<\/strong>\u306fPCD\u306e\u4ee3\u8868\u7684\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u5916\u8155\u30c0\u30a4\u30cb\u30f3\u306e\u69cb\u9020\u3068\u904b\u52d5\u6a5f\u80fd\u3092\u62c5\u3046<strong>\u30c0\u30a4\u30cb\u30f3\u30a2\u30af\u30bd\u30cd\u30de\u30eb\u4e2d\u9593\u9396<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002DNAI1\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306b\u3088\u308a\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u304c\u963b\u5bb3\u3055\u308c\u3001\u7c98\u6db2\u306e\u6392\u51fa\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u305d\u306e\u4ed6\u306ePCD\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAI1\u5909\u7570\u306f\u3001\u5168PCD\u75c7\u4f8b\u306e\u7d044\uff5e10\uff05\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u5730\u57df\u3084\u6c11\u65cf\u96c6\u56e3\u3054\u3068\u306b\u983b\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u4ed6\u306b\u3082<strong>DNAH5\u3001DNAH11\u3001DNAL1<\/strong>\u306a\u3069\u3001\u30c0\u30a4\u30cb\u30f3\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304cPCD\u306e\u539f\u56e0\u3068\u3057\u3066\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>PCD\u306e\u75c7\u72b6\u306f\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u6daf\u3092\u901a\u3058\u3066\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f<\/strong>\uff1a\u7d0480\uff05\u306e\u60a3\u8005\u304c\u3001\u751f\u307e\u308c\u3066\u3059\u3050\u306b\u547c\u5438\u7aae\u8feb\uff08\u80ba\u5185\u306e\u7f8a\u6c34\u3092\u6392\u51fa\u3059\u308b\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u5e7c\u5150\u671f\u30fb\u5c0f\u5150\u671f<\/strong>\uff1a\u6301\u7d9a\u7684\u306a\u6e7f\u3063\u305f\u54b3\uff08\u6e7f\u6027\u54b3\u55fd\uff09\u3001\u6162\u6027\u7684\u306a\u9f3b\u3065\u307e\u308a\u3001\u7e70\u308a\u8fd4\u3059\u6c17\u9053\u611f\u67d3\u75c7\uff08\u6c17\u7ba1\u652f\u708e\u3001\u80ba\u708e\u3001\u526f\u9f3b\u8154\u708e\u3001\u4e2d\u8033\u708e\uff09\u3001\u6162\u6027\u7684\u306a\u4e2d\u8033\u708e\u306b\u3088\u308b<strong>\u4f1d\u97f3\u6027\u96e3\u8074<\/strong>\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f<\/strong>\uff1a\u9032\u884c\u6027\u306e<strong>\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7<\/strong>\uff08\u6c17\u9053\u306e\u69cb\u9020\u304c\u640d\u50b7\u3057\u3001\u6162\u6027\u7684\u306a\u611f\u67d3\u3084\u547c\u5438\u56f0\u96e3\u3092\u5f15\u304d\u8d77\u3053\u3059\uff09\u3001\u6162\u6027\u526f\u9f3b\u8154\u708e\u3001\u4e0d\u598a\u75c7\uff08\u7537\u6027\u306f\u7cbe\u5b50\u306e\u904b\u52d5\u969c\u5bb3\u3001\u5973\u6027\u306f\u5375\u7ba1\u7dda\u6bdb\u306e\u7570\u5e38\u306b\u3088\u308b\u53d7\u7cbe\u969c\u5bb3\uff09\u3001\u6301\u7d9a\u7684\u306a\u547c\u5438\u5668\u75c7\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u5185\u81d3\u9006\u4f4d\uff08\u5de6\u53f3\u306e\u81d3\u5668\u914d\u7f6e\u7570\u5e38\uff09<\/strong>\uff1a\u60a3\u8005\u306e\u7d0450\uff05\u304csitus inversus totalis\uff08\u5b8c\u5168\u5185\u81d3\u9006\u4f4d\uff09<strong>\u3092\u5448\u3057\u30016\uff05\u306f<\/strong>\u30d8\u30c6\u30ed\u30bf\u30ad\u30b7\u30fc\uff08\u5fc3\u81d3\u306e\u5148\u5929\u7570\u5e38\u3084\u813e\u81d3\u306e\u7570\u5e38\u306a\u3069\u3092\u4f34\u3046\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/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>PCD\u306e\u8a3a\u65ad\u306f\u3001\u4e00\u3064\u306e\u691c\u67fb\u3060\u3051\u3067\u306f\u78ba\u5b9a\u3067\u304d\u305a\u3001\u4ee5\u4e0b\u306e\u8907\u6570\u306e\u624b\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\uff08nNO\uff09\u6e2c\u5b9a<\/strong>\uff1aPCD\u60a3\u8005\u306f\u4e00\u822c\u7684\u306bnNO\u6fc3\u5ea6\u304c\u4f4e\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u900f\u904e\u578b\u96fb\u5b50\u9855\u5fae\u93e1\uff08TEM\uff09<\/strong>\uff1a\u7dda\u6bdb\u306e\u5fae\u7d30\u69cb\u9020\u306e\u7570\u5e38\u3092\u89b3\u5bdf\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3067\u306f\u6b63\u5e38\u306a\u69cb\u9020\u304c\u7dad\u6301\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u901f\u30d3\u30c7\u30aa\u9855\u5fae\u93e1\u89e3\u6790<\/strong>\uff1a\u7dda\u6bdb\u306e\u52d5\u304d\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u8a55\u4fa1\u3057\u307e\u3059\u304c\u3001\u5c02\u9580\u65bd\u8a2d\u3067\u306e\u307f\u5b9f\u65bd\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u86cd\u5149\u67d3\u8272\u6cd5<\/strong>\uff1a\u7279\u5b9a\u306e\u7dda\u6bdb\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u3092\u691c\u51fa\u3057\u3001\u8a3a\u65ad\u306e\u7cbe\u5ea6\u3092\u5411\u4e0a\u3055\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08NGS\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u308a\u3001DNAI1\u3092\u542b\u3080PCD\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u5f93\u6765\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u306b\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ol>\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\u305b\u305a\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u305f\u3081\u306e<strong>\u652f\u6301\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6c17\u9053\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\u7642\u6cd5<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u3001\u4f53\u4f4d\u30c9\u30ec\u30ca\u30fc\u30b8\u3001\u7c98\u6db2\u6eb6\u89e3\u5264\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u6297\u751f\u7269\u8cea\u7642\u6cd5<\/strong>\uff1a\u7d30\u83cc\u611f\u67d3\u306e\u65e9\u671f\u6cbb\u7642\u306b\u3088\u308a\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306e\u9032\u884c\u3092\u9632\u3050\u3002<\/li>\n\n\n\n<li><strong>\u6c17\u7ba1\u652f\u62e1\u5f35\u5264\u30fb\u30b9\u30c6\u30ed\u30a4\u30c9<\/strong>\uff1a\u6c17\u9053\u708e\u75c7\u306e\u7ba1\u7406\u306b\u4e00\u90e8\u306e\u60a3\u8005\u3067\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a\u652f\u63f4<\/strong>\uff1a\u4f1d\u97f3\u6027\u96e3\u8074\u306b\u5bfe\u3059\u308b\u88dc\u8074\u5668\u3084\u5916\u79d1\u7684\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u88dc\u52a9\u533b\u7642<\/strong>\uff1a\u4e0d\u598a\u75c7\u306e\u60a3\u8005\u306b\u4f53\u5916\u53d7\u7cbe\uff08IVF\uff09\u306a\u3069\u3092\u9069\u7528\u3002<\/li>\n\n\n\n<li><strong>\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e<\/strong>\uff1a\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u30fb\u80ba\u708e\u7403\u83cc\u30ef\u30af\u30c1\u30f3\u306b\u3088\u308b\u611f\u67d3\u4e88\u9632\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PCD\u306e\u9577\u671f\u4e88\u5f8c\u306f\u3001\u75c5\u614b\u306e\u91cd\u75c7\u5ea6\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308a\u591a\u304f\u306e\u60a3\u8005\u306f<strong>\u307b\u307c\u6b63\u5e38\u306a\u5bff\u547d<\/strong>\u3092\u7dad\u6301\u3067\u304d\u307e\u3059\u304c\u3001\u91cd\u75c7\u4f8b\u3067\u306f<strong>\u547c\u5438\u4e0d\u5168<\/strong>\u306b\u81f3\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002\u4eca\u5f8c\u306e\u907a\u4f1d\u5b50\u7814\u7a76\u3084\u5206\u5b50\u6a19\u7684\u6cbb\u7642\u306e\u767a\u5c55\u306b\u3088\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u95a2\u9023\u60c5\u5831\uff5cRelated Links<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/\"><em>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08dnah5\u95a2\u9023\uff09<\/em>. (2025 March). NIPT\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad \u7d50\u679c\u306f\u6700\u77ed2\u65e5- \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af. Retrieved 4 March 2025, from https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/<\/a><\/li>\n<\/ul>\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:\/\/ddd.uab.cat\/record\/272977\">Baz-Red\u00f3n, N. (2022). Molecular charaterization of Primary Ciliary Dyskinesia.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jcm10215102\">Alsamri, M. T., Alabdouli, A., Iram, D., Alkalbani, A. M., Almarzooqi, A. S., Souid, A.-K., &amp; Vijayan, R. (2021). A study on the genetics of primary ciliary dyskinesia. <em>Journal of Clinical Medicine<\/em>, <em>10<\/em>(21), 5102. https:\/\/doi.org\/10.3390\/jcm10215102<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/hdl.handle.net\/21.15107\/rcub_imagine_1903\">Skaki\u0107, A., Stevanovi\u0107, N., Spasovski, V., Parezanovi\u0107, M., Ugrin, M., Komazec, J., Klaassen, K., Stankovi\u0107, S., Pavlovi\u0107, S., Stojiljkovi\u0107, M.,&amp; An\u0111elkovi\u0107, M.. (2023). Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia. in Genetics &amp; Applications Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition)), 110. https:\/\/hdl.handle.net\/21.15107\/rcub_imagine_1903<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0205422\">Andjelkovic M, Minic P, Vreca M, Stojiljkovic M, Skakic A, Sovtic A, et al. (2018) Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLoS ONE 13(10): e0205422. https:\/\/doi.org\/10.1371\/journal.pone.0205422<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1159\/000128567\">Failly, M., Saitta, A., Mu\u00f1oz, A., Falconnet, E., Rossier, C., Santamaria, F., De Santi, M. M., Lazor, R., DeLozier-Blanchet, C. D., Bartoloni, L., &amp; Blouin, J.-L. (2008). <em>Dnai1<\/em> mutations explain only 2% of primary ciliary dykinesia. <em>Respiration<\/em>, <em>76<\/em>(2), 198\u2013204. https:\/\/doi.org\/10.1159\/000128567<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1183\/23120541.00989-2023\">Wee, W. B., Gatt, D., Seidl, E., Santyr, G., To, T., &amp; Dell, S. D. (2024). Estimates of primary ciliary dyskinesia prevalence: a scoping review. <em>ERJ open research<\/em>, <em>10<\/em>(4), 00989-2023. https:\/\/doi.org\/10.1183\/23120541.00989-2023<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/S2213-2600(21)00453-7\">Hannah, W. B., Seifert, B. A., Truty, R., Zariwala, M. A., Ameel, K., Zhao, Y., Nykamp, K., &amp; Gaston, B. (2022). The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. <em>The Lancet. Respiratory medicine<\/em>, <em>10<\/em>(5), 459\u2013468. https:\/\/doi.org\/10.1016\/S2213-2600(21)00453-7<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":31,"template":"page_gd.php","class_list":["post-33652","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\/33652","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":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33652\/revisions"}],"predecessor-version":[{"id":127726,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33652\/revisions\/127726"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33652"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}