{"id":33658,"date":"2022-07-11T17:38:08","date_gmt":"2022-07-11T08:38:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33658"},"modified":"2026-04-28T13:12:27","modified_gmt":"2026-04-28T04:12:27","slug":"primary-ciliary-dyskinesia-dnah5-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/primary-ciliary-dyskinesia-dnah5-related\/","title":{"rendered":"\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08DNAH5\u95a2\u9023\uff09"},"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\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u306f\u3001\u7dda\u6bdb\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002DNAH5\u3084DNAI1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u4e3b\u306a\u539f\u56e0\u3068\u3055\u308c\u3001\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u5185\u81d3\u306e\u7570\u5e38\u306a\u914d\u7f6e\u3001\u4e0d\u598a\u75c7\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001PCD\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>DNAH5\uff5cPrimary Ciliary Dyskinesia (DNAH5-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<strong>\u52d5\u6bdb\u7dda\u6bdb<\/strong>\uff08\u3069\u3046\u3082\u3046\u305b\u3093\u3082\u3046\uff09\u306e\u6a5f\u80fd\u306b\u7570\u5e38\u3092\u304d\u305f\u3059\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u3088\u308a\u3001<strong>\u6162\u6027\u7684\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7<\/strong>\u3001<strong>\u5185\u81d3\u306e\u7570\u5e38\u306a\u914d\u7f6e<\/strong>\u3001<strong>\u4e0d\u598a\u75c7<\/strong>\u306a\u3069\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7dda\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u3068\u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b\u751f\u3048\u3066\u3044\u308b\u6bdb\u306e\u3088\u3046\u306a\u5fae\u7d30\u306a\u69cb\u9020<\/strong>\u3067\u3001\u6c17\u9053\uff08\u547c\u5438\u5668\uff09\u3001\u751f\u6b96\u5668\u3001\u8133\u306a\u3069\u306e\u7d44\u7e54\u306b\u5206\u5e03\u3057\u3066\u3044\u307e\u3059\u3002\u6c17\u9053\u306e\u7dda\u6bdb\u306f\u3001<strong>\u7c98\u6db2\u3084\u7d30\u83cc\u3001\u7570\u7269\u3092\u6392\u51fa\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272<\/strong>\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001PCD\u3067\u306f\u907a\u4f1d\u7684\u306a\u5909\u7570\u306b\u3088\u3063\u3066\u7dda\u6bdb\u306e\u52d5\u304d\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3057\u3001<strong>\u5206\u6ccc\u7269\u3092\u9069\u5207\u306b\u6392\u9664\u3067\u304d\u306a\u304f\u306a\u308b<\/strong>\u305f\u3081\u3001\u6162\u6027\u708e\u75c7\u3084\u611f\u67d3\u75c7\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>PCD\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\uff08\u4e21\u89aa\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u53d7\u3051\u53d6\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u3067\u907a\u4f1d\u3057\u3001<strong>\u907a\u4f1d\u7684\u306b\u591a\u69d8\u306a\u75be\u60a3<\/strong>\u3067\u3059\u3002\u3053\u308c\u307e\u3067\u306b<strong>30\u7a2e\u985e\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50<\/strong>\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u3001<strong>DNAH5<\/strong>\u3068<strong>DNAI1<\/strong>\u306f\u6700\u3082\u983b\u7e41\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001PCD\u306e\u7d043\u5206\u306e1\u306e\u75c7\u4f8b\u304c\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u6bdb\u306e\u52d5\u304d\u3092\u53f8\u308b\u300c<strong>\u5916\u8155\u30c0\u30a4\u30cb\u30f3\uff08Outer Dynein Arm, ODA\uff09<\/strong>\u300d\u3068\u547c\u3070\u308c\u308b\u69cb\u9020\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068ODA\u304c\u6a5f\u80fd\u4e0d\u5168\u3092\u8d77\u3053\u3057\u3001PCD\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PCD\u306f<strong>\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001<strong>\u51fa\u751f10,000\u301c30,000\u4eba\u306b1\u4eba<\/strong>\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u308b\u767a\u75c7\u7387\u306e\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>PCD\u60a3\u8005\u306e\u7d04<strong>50%\u306f\u5185\u81d3\u9006\u4f4d\uff08situs inversus totalis\uff09\u3092\u5448\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u5fc3\u81d3\u3084\u809d\u81d3\u306a\u3069\u306e\u5185\u81d3\u304c\u5de6\u53f3\u53cd\u8ee2\u3057\u305f\u72b6\u614b<\/strong>\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002\u307e\u305f\u3001\u7d04<strong>12%\u306e\u60a3\u8005<\/strong>\u306f\u30d8\u30c6\u30ed\u30bf\u30ad\u30b7\u30fc\u75c7\u5019\u7fa4\uff08heterotaxy syndrome\uff09\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001<strong>\u5fc3\u81d3\u3084\u813e\u81d3\u3001\u6d88\u5316\u7ba1\u306a\u3069\u306e\u914d\u7f6e\u7570\u5e38\u3084\u5f62\u614b\u7570\u5e38<\/strong>\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p>PCD\u306f\u3001<strong>\u81e8\u5e8a\u75c7\u72b6\u304c\u591a\u69d8<\/strong>\u3067\u3042\u308b\u305f\u3081\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u7279\u306b\u5185\u81d3\u306e\u914d\u7f6e\u7570\u5e38\u304c\u306a\u3044\u60a3\u8005\u3067\u306f<strong>\u898b\u843d\u3068\u3055\u308c\u3084\u3059\u3044<\/strong>\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5b9f\u969b\u306e\u767a\u75c7\u7387\u306f\u73fe\u5728\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\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<strong>\u7dda\u6bdb\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u7279\u306b<strong>DNAH5<\/strong>\u3084<strong>DNAI1<\/strong>\u306e\u5909\u7570\u306f\u3001PCD\u306e<strong>\u7d043\u5206\u306e1<\/strong>\u3092\u5360\u3081\u308b\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u6bdb\u306e\u904b\u52d5\u3092\u751f\u307f\u51fa\u3059\u5916\u8155\u30c0\u30a4\u30cb\u30f3\uff08ODA\uff09\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u5909\u7570\u3059\u308b\u3068\u3001\u7dda\u6bdb\u306e\u52d5\u304d\u304c\u4f4e\u4e0b\u3057\u3001<strong>\u6c17\u9053\u306e\u7c98\u6db2\u304c\u9069\u5207\u306b\u6392\u51fa\u3055\u308c\u306a\u304f\u306a\u308b<\/strong>\u305f\u3081\u3001\u6162\u6027\u7684\u306a\u611f\u67d3\u75c7\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001<strong>\u80da\u767a\u751f\u306e\u904e\u7a0b\u3067\u5358\u7dda\u6bdb\uff08monocilia\uff09\u3068\u547c\u3070\u308c\u308b\u7279\u6b8a\u306a\u7dda\u6bdb\u304c\u4f53\u306e\u5de6\u53f3\u3092\u6c7a\u3081\u308b\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002PCD\u3067\u306f\u3053\u306e\u5358\u7dda\u6bdb\u3082\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u3001\u5de6\u53f3\u306e\u4f53\u306e\u5bfe\u79f0\u6027\u304c\u30e9\u30f3\u30c0\u30e0\u306b\u6c7a\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u305d\u308c\u304c\u5185\u81d3\u9006\u4f4d\u3084\u30d8\u30c6\u30ed\u30bf\u30ad\u30b7\u30fc\u75c7\u5019\u7fa4<\/strong>\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>PCD\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001<strong>\u547c\u5438\u5668\u75c7\u72b6<\/strong>\u3092\u4e2d\u5fc3\u306b\u3001\u751f\u6b96\u6a5f\u80fd\u3084\u4f53\u306e\u5de6\u53f3\u5bfe\u79f0\u6027\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u5668\u75c7\u72b6<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u304b\u3089\u306e<strong>\u547c\u5438\u969c\u5bb3<\/strong>\uff08\u80ce\u5150\u306e\u80ba\u6db2\u6392\u51fa\u306e\u7570\u5e38\u306b\u3088\u308b\uff09<\/li>\n\n\n\n<li>\u5e7c\u5150\u671f\u304b\u3089\u7d9a\u304f<strong>\u6162\u6027\u7684\u306a\u54b3\u3084\u9f3b\u3065\u307e\u308a<\/strong><\/li>\n\n\n\n<li><strong>\u7e70\u308a\u8fd4\u3059\u80ba\u708e\u3084\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7<\/strong>\uff08\u80ba\u306b\u708e\u75c7\u304c\u7d9a\u304d\u3001\u6c17\u9053\u304c\u62e1\u5f35\u3059\u308b\u75c5\u614b\uff09<\/li>\n\n\n\n<li><strong>\u6162\u6027\u526f\u9f3b\u8154\u708e\u3084\u4e2d\u8033\u708e<\/strong>\uff08\u983b\u767a\u3059\u308b\u3068<strong>\u8074\u529b\u4f4e\u4e0b<\/strong>\u306e\u30ea\u30b9\u30af\u3042\u308a\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u81d3\u306e\u914d\u7f6e\u7570\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>50%\u306e\u60a3\u8005\u304c\u5185\u81d3\u9006\u4f4d<\/strong>\u3092\u6301\u3064<\/li>\n\n\n\n<li><strong>12%\u306f\u30d8\u30c6\u30ed\u30bf\u30ad\u30b7\u30fc\u75c7\u5019\u7fa4<\/strong>\u3092\u767a\u75c7\u3057\u3001\u5fc3\u81d3\u5947\u5f62\u3084\u813e\u81d3\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u6a5f\u80fd\u306e\u7570\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u307b\u307c\u5168\u3066\u306e\u7537\u6027\u60a3\u8005\u306f\u4e0d\u598a\u75c7<\/strong>\uff08\u7cbe\u5b50\u306e\u97ad\u6bdb\u304c\u52d5\u304b\u306a\u3044\u305f\u3081\uff09<\/li>\n\n\n\n<li><strong>\u5973\u6027\u3082\u5375\u7ba1\u306e\u7dda\u6bdb\u7570\u5e38\u306b\u3088\u308b\u53d7\u7cbe\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7a00\u306b\u6c34\u982d\u75c7\uff08hydrocephalus\uff09<\/strong>\uff08\u8133\u5185\u306e\u8133\u810a\u9ac4\u6db2\u306e\u6d41\u308c\u304c\u969c\u5bb3\u3055\u308c\u308b\uff09<\/li>\n<\/ul>\n<\/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\u306b\u306f\u3001<strong>\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d<\/strong>\u306b\u52a0\u3048\u3066<strong>\u5c02\u9580\u7684\u306a\u691c\u67fb<\/strong>\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\uff08nNO\uff09\u6e2c\u5b9a<\/strong>\n<ul class=\"wp-block-list\">\n<li>PCD\u60a3\u8005\u3067\u306f<strong>nNO\u304c\u4f4e\u5024<\/strong>\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9ad8\u901f\u30d3\u30c7\u30aa\u9855\u5fae\u93e1\u89e3\u6790\uff08HSVA\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7dda\u6bdb\u306e\u904b\u52d5\u7570\u5e38<\/strong>\u3092\u89b3\u5bdf\u3059\u308b<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u900f\u904e\u578b\u96fb\u5b50\u9855\u5fae\u93e1\uff08TEM\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>DNAH5\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3067\u306fODA\u6b20\u640d\u304c\u78ba\u8a8d\u3055\u308c\u308b<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>DNAH5, DNAI1 \u306a\u3069\u306e\u5909\u7570\u3092\u7279\u5b9a\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad<\/strong><\/li>\n<\/ul>\n<\/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>PCD\u306b\u5bfe\u3059\u308b<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u304c\u3001<strong>\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u75c5\u6c17\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u6cbb\u7642<\/strong>\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6c17\u9053\u30af\u30ea\u30a2\u30e9\u30f3\u30b9\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6bce\u65e5\u306e<strong>\u80f8\u90e8\u7406\u5b66\u7642\u6cd5<\/strong>\uff08\u6392\u75f0\u306e\u305f\u3081\u306e\u624b\u6280\uff09<\/li>\n\n\n\n<li><strong>\u8d85\u97f3\u6ce2\u30cd\u30d6\u30e9\u30a4\u30b6\u30fc\uff08\u52a0\u6e7f\u5668\uff09\u306b\u3088\u308b\u7c98\u6db2\u6eb6\u89e3\u5264\u306e\u4f7f\u7528<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u751f\u7269\u8cea\u306e\u65e9\u671f\u6295\u4e0e<\/strong><\/li>\n\n\n\n<li><strong>\u30a2\u30b8\u30b9\u30ed\u30de\u30a4\u30b7\u30f3\u7dad\u6301\u7642\u6cd5<\/strong>\uff08\u611f\u67d3\u983b\u5ea6\u3092\u6e1b\u5c11\u3055\u305b\u308b\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e2d\u8033\u708e\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u529b\u4f4e\u4e0b\u3092\u9632\u3050\u305f\u3081\u306e\u6cbb\u7642<\/strong>\uff08\u9f13\u819c\u30c1\u30e5\u30fc\u30d6\u633f\u5165\u306a\u3069\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306b\u5bfe\u3059\u308b\u80ba\u79fb\u690d<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c06\u6765\u306e\u6cbb\u7642<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084RNA\u4fee\u5fa9\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PCD\u306f<strong>\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u75be\u60a3<\/strong>\u3067\u3059\u304c\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642<\/strong>\u306b\u3088\u3063\u3066<strong>\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a<\/strong>\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u6a5f\u80fd\u306f\u6642\u9593\u3068\u3068\u3082\u306b\u4f4e\u4e0b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong>\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3067\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u308b<\/li>\n\n\n\n<li><strong>\u5bff\u547d\u306f\u7ba1\u7406\u6b21\u7b2c\u3067\u5927\u304d\u304f\u7570\u306a\u308b<\/strong>\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308c\u3070\u6210\u4eba\u5f8c\u3082\u826f\u597d\u306a\u751f\u6d3b\u304c\u53ef\u80fd<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7dda\u6bdb\u6a5f\u80fd\u56de\u5fa9\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u304c\u671f\u5f85\u3055\u308c\u308b<\/strong><\/li>\n<\/ul>\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-dnai1-related\/\"><em>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\uff08dnai1\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-dnai1-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\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1097\/MD.0000000000036271\">Shi, Y., Lei, Q., &amp; Han, Q. (2023). Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report. <em>Medicine<\/em>, <em>102<\/em>(52), e36271. https:\/\/doi.org\/10.1097\/MD.0000000000036271<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ppul.22520\">Djakow, J., Svobodov\u00e1, T., Hrach, K., Uhl\u00edk, J., Cinek, O., &amp; Pohunek, P. (2012). Effectiveness of sequencing selected exons of <em>DNAH5 and DNAI1<\/em> in diagnosis of primary ciliary dyskinesia. <em>Pediatric Pulmonology<\/em>, <em>47<\/em>(9), 864\u2013875. https:\/\/doi.org\/10.1002\/ppul.22520<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1164\/rccm.200601-084OC\">Hornef, N., Olbrich, H., Horvath, J., Zariwala, M. A., Fliegauf, M., Loges, N. T., Wildhaber, J., Noone, P. G., Kennedy, M., Antonarakis, S. E., Blouin, J.-L., Bartoloni, L., N\u00fcsslein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M. R., Reinhardt, R., &amp; Omran, H. (2006). <em>Dnah5<\/em> mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. <em>American Journal of Respiratory and Critical Care Medicine<\/em>, <em>174<\/em>(2), 120\u2013126. https:\/\/doi.org\/10.1164\/rccm.200601-084OC<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms22189834\">Paff, T., Omran, H., Nielsen, K. G., &amp; Haarman, E. G. (2021). Current and future treatments in primary ciliary dyskinesia. <em>International Journal of Molecular Sciences<\/em>, <em>22<\/em>(18), 9834. https:\/\/doi.org\/10.3390\/ijms22189834<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":27,"template":"page_gd.php","class_list":["post-33658","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\/33658","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":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33658\/revisions"}],"predecessor-version":[{"id":127724,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33658\/revisions\/127724"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33658"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}