{"id":102829,"date":"2025-07-02T10:01:42","date_gmt":"2025-07-02T01:01:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102829"},"modified":"2026-03-04T10:37:40","modified_gmt":"2026-03-04T01:37:40","slug":"primary-ciliary-dyskinesia-dnai2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/","title":{"rendered":"\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7 \u3010DNAI2\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%91%BC%E5%90%B8%E5%99%A8%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\" >\u547c\u5438\u5668\u7cfb\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%86%85%E8%87%93%E3%81%AE%E5%B7%A6%E5%8F%B3%E7%95%B0%E5%B8%B8\" >\u5185\u81d3\u306e\u5de6\u53f3\u7570\u5e38<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%94%9F%E6%AE%96%E5%99%A8%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\" 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class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E6%89%80%E8%A6%8B\" >\u81e8\u5e8a\u7684\u306a\u6240\u898b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E6%A4%9C%E6%9F%BB%E6%96%B9%E6%B3%95%EF%BC%88%E6%97%A5%E6%9C%AC%E3%81%AE%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96%E3%81%AB%E6%BA%96%E6%8B%A0%EF%BC%89\" >\u691c\u67fb\u65b9\u6cd5\uff08\u65e5\u672c\u306e\u8a3a\u65ad\u57fa\u6e96\u306b\u6e96\u62e0\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\" >\u547c\u5438\u5668\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E8%80%B3%E9%BC%BB%E5%92%BD%E5%96%89%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\" >\u8033\u9f3b\u54bd\u5589\u79d1\u7684\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%81%A8%E7%94%9F%E6%AE%96%E5%8C%BB%E7%99%82\" >\u598a\u5a20\u30fb\u51fa\u7523\u3068\u751f\u6b96\u533b\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%85%88%E9%80%B2%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u5148\u9032\u7684\u6cbb\u7642\u306e\u5c55\u671b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300c\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09\u300d\u306e\u4e2d\u3067\u3082\u3001DNAI2\uff08\u30c7\u30a3\u30fc\u30a8\u30cc\u30a8\u30fc\u30a2\u30a4\u30c4\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3068\u306a\u308b\u30bf\u30a4\u30d7\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u3054\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002PCD\u306f\u3001\u7dda\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u3068\u547c\u3070\u308c\u308b\u4f53\u306e\u4e2d\u306e\u5c0f\u3055\u306a\u6bdb\u306e\u52d5\u304d\u306b\u5148\u5929\u7684\u306a\u554f\u984c\u304c\u3042\u308b\u75c5\u6c17\u3067\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u306e\u30c8\u30e9\u30d6\u30eb\u3084\u3001\u304f\u308a\u8fd4\u3059\u54b3\u3001\u9f3b\u3065\u307e\u308a\u3001\u4e2d\u8033\u708e\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n  <p>DNAI2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001\u7dda\u6bdb\u3092\u52d5\u304b\u3059\u91cd\u8981\u306a\u90e8\u5206\u304c\u3046\u307e\u304f\u3064\u304f\u3089\u308c\u306a\u304f\u306a\u308a\u3001\u4f53\u306e\u4e2d\u306e\u3055\u307e\u3056\u307e\u306a\u5834\u6240\u3067\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u75f0\u3092\u5916\u306b\u51fa\u3059\u50cd\u304d\u304c\u5f31\u307e\u3063\u305f\u308a\u3001\u5185\u81d3\u306e\u5de6\u53f3\u306e\u4f4d\u7f6e\u304c\u9006\u306b\u306a\u308b\u300c\u5185\u81d3\u9006\u4f4d\uff08situs inversus\uff09\u300d\u304c\u898b\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7537\u6027\u3067\u306f\u4e0d\u598a\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n  <p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001DNAI2\u95a2\u9023PCD\u306e\u539f\u56e0\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3001\u691c\u67fb\u306e\u65b9\u6cd5\u3001\u65e5\u5e38\u7684\u306a\u30b1\u30a2\u3084\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u7528\u8a9e\u3092\u3067\u304d\u308b\u3060\u3051\u4f7f\u308f\u305a\u3001\u3084\u3055\u3057\u304f\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u306b\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u65b9\u3001\u691c\u67fb\u3084\u8a3a\u65ad\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306b\u3001\u5b89\u5fc3\u3057\u3066\u8aad\u3093\u3067\u3044\u305f\u3060\u3051\u308b\u5185\u5bb9\u3067\u3059\u3002<\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>DNAI2<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DNAI2-hgtIdeo_genome_asia_fad81_3729d0-1024x26.png\" alt=\"DNAI2\" class=\"wp-image-102830\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DNAI2\uff08Dynein Axonemal Intermediate Chain 2\uff09\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u7b2c17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff0817q25\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u79c1\u305f\u3061\u306e\u8eab\u4f53\u306e\u4e2d\u306b\u3042\u308b\u300c\u7dda\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u5c0f\u3055\u306a\u6bdb\u306e\u3088\u3046\u306a\u69cb\u9020\u306e\u4e2d\u306e\u3001\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08Outer Dynein Arm, ODA\uff09\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\u3092\u4f5c\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eDNAI2\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7dda\u6bdb\u306e\u52d5\u304d\u3092\u751f\u307f\u51fa\u3059\u30e2\u30fc\u30bf\u30fc\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3057\u3066\u304a\u308a\u3001\u6c17\u7ba1\uff08\u306e\u3069\u306e\u5965\u304b\u3089\u80ba\u306b\u304b\u3051\u3066\u306e\u7ba1\uff09\u3084\u7cbe\u5de3\u306a\u3069\u3001\u7dda\u6bdb\u304c\u305f\u304f\u3055\u3093\u3042\u308b\u7d44\u7e54\u306b\u7279\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u6b63\u5e38\u306b\u50cd\u304f\u3053\u3068\u3067\u3001\u547c\u5438\u5668\u3084\u751f\u6b96\u5668\u306e\u6a5f\u80fd\u3092\u652f\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u6b63\u5f0f\u306b\u306f\u3001DNAI2\u95a2\u9023\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, DNAI2-related\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u533b\u5b66\u7684\u306b\u306f\u300cCILD9\uff08Ciliary Dyskinesia, Primary, 9\uff09\u300d\u3068\u3044\u3046\u5206\u985e\u756a\u53f7\uff08OMIM #612444\uff09\u304c\u3064\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u7dda\u6bdb\u306e\u69cb\u9020\u3084\u52d5\u304d\u306b\u7570\u5e38\u304c\u3042\u308b\u305f\u3081\u306b\u8d77\u3053\u308b\u3001\u907a\u4f1d\u6027\uff08\u89aa\u304b\u3089\u5b50\u3078\u3068\u53d7\u3051\u7d99\u304c\u308c\u308b\uff09\u304b\u3064\u6162\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, \u7565\u79f0PCD\uff09\u306f\u3001\u8eab\u4f53\u4e2d\u306e\u300c\u52d5\u304f\u7dda\u6bdb\uff08motile cilia\uff09\u300d\u306e\u69cb\u9020\u3084\u6a5f\u80fd\u306b\u5148\u5929\u7684\u306a\u7570\u5e38\u304c\u3042\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7dda\u6bdb\u306f\u3001\u79c1\u305f\u3061\u306e\u80ba\u306e\u4e2d\u3084\u9f3b\u306e\u7c98\u819c\u3001\u8033\u3001\u305d\u3057\u3066\u751f\u6b96\u5668\u306a\u3069\u306b\u5b58\u5728\u3059\u308b\u3068\u3066\u3082\u5c0f\u3055\u306a\u6bdb\u306e\u3088\u3046\u306a\u69cb\u9020\u3067\u3059\u3002\u3053\u306e\u7dda\u6bdb\u304c\u30ea\u30ba\u30e0\u3088\u304f\u52d5\u304f\u3053\u3068\u3067\u3001\u80ba\u306e\u4e2d\u306e\u7570\u7269\u3084\u7d30\u83cc\u3092\u5916\u306b\u62bc\u3057\u51fa\u3057\u305f\u308a\u3001\u4f53\u5185\u306e\u5668\u5b98\u306e\u4f4d\u7f6e\uff08\u5de6\u53f3\u306e\u4f4d\u7f6e\u95a2\u4fc2\uff09\u3092\u80ce\u5150\u306e\u9803\u306b\u6b63\u3057\u304f\u6c7a\u3081\u305f\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u3092\u52d5\u304b\u3057\u305f\u308a\u3068\u3044\u3063\u305f\u3001\u5927\u5207\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAI2\u95a2\u9023\u306ePCD\u3067\u306f\u3001\u7dda\u6bdb\u306e\u52d5\u304d\u306b\u5fc5\u8981\u306a\u300c\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08ODA\uff09\u300d\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u307e\u3063\u305f\u304f\u5b58\u5728\u3057\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u969c\u5bb3\u3001\u6162\u6027\u7684\u306a\u54b3\u3084\u9f3b\u3065\u307e\u308a\u3001\u8033\u306e\u611f\u67d3\u75c7\u3001\u3055\u3089\u306b\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u79fb\u52d5\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u4e0d\u598a\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u80ce\u5150\u671f\u306b\u5668\u5b98\u306e\u5de6\u53f3\u306e\u914d\u7f6e\u304c\u30e9\u30f3\u30c0\u30e0\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u5185\u81d3\u306e\u5de6\u53f3\u304c\u53cd\u8ee2\u3057\u3066\u3044\u308b\uff08\u300c\u5185\u81d3\u9006\u4f4d\uff1asitus inversus\u300d\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8907\u96d1\u306a\u5de6\u53f3\u306e\u914d\u7f6e\u7570\u5e38\uff08\u300c\u7570\u6240\u6027\uff1aheterotaxy\u300d\uff09\u3067\u306f\u3001\u5fc3\u81d3\u306a\u3069\u306e\u91cd\u8981\u306a\u81d3\u5668\u306e\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/homocystinuria-cbs-deficiency-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2-\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u640d\u306b\u3088\u308b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3010CBS\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u4f53\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u76ee\u3084\u9aa8\u3001\u8840\u7ba1\u306a\u3069\u306b\u5f71\u97ff\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>PCD\u306f\u7a00\u306a\u75be\u60a3\u3067\u3001\u4e16\u754c\u7684\u306a\u767a\u75c7\u983b\u5ea6\u306f\u304a\u3088\u305d1\u4e076,000\u301c2\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u8840\u7e01\u5a5a\uff08\u89aa\u621a\u540c\u58eb\u306e\u7d50\u5a5a\uff09\u304c\u591a\u3044\u5730\u57df\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u305f\u3068\u3048\u3070\u30a2\u30e9\u30d3\u30a2\u534a\u5cf6\u3084\u5357\u30a2\u30b8\u30a2\u306e\u4e00\u90e8\u5730\u57df\u3001\u65e5\u672c\u56fd\u5185\u306e\u7279\u5b9a\u306e\u96c6\u56e3\u306a\u3069\u3067\u3001\u3088\u308a\u9ad8\u983b\u5ea6\u3067\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u82f1\u56fd\u306b\u4f4f\u3080\u5357\u30a2\u30b8\u30a2\u7cfb\u4f4f\u6c11\u3067\u306f\u7d041\/2,265\u306e\u983b\u5ea6\u3067\u3001\u30a2\u30e9\u30d6\u9996\u9577\u56fd\u9023\u90a6\uff08UAE\uff09\u3084\u30af\u30a6\u30a7\u30fc\u30c8\u306e\u8840\u7e01\u5a5a\u306e\u591a\u3044\u90e8\u65cf\u306b\u3082\u9ad8\u983b\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u3001\u304a\u3088\u305d2\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3001\u5168\u56fd\u3067\u7d045,000\u4eba\u7a0b\u5ea6\u304c\u60a3\u8005\u3068\u3057\u3066\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u30bf\u30a4\u30d7\u306f\u3001PCD\u5168\u4f53\u306e\u4e2d\u3067\u306f\u7d042\uff05\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u5b9a\u5730\u57df\u3084\u5bb6\u7cfb\u306b\u9650\u3063\u3066\u306f\u3001\u540c\u3058\u5909\u7570\u3092\u3082\u3064\u60a3\u8005\u304c\u8907\u6570\u898b\u3064\u304b\u308b\u300c\u5275\u59cb\u8005\u5909\u7570\uff08founder mutation\uff09\u300d\u306e\u5b58\u5728\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DNAI2\u95a2\u9023PCD\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive inheritance\uff09\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u7570\u5e38\u306aDNAI2\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7570\u5e38\u3060\u3068\u3001\u300c\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08Outer Dynein Arm\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7dda\u6bdb\u306e\u4e00\u90e8\u304c\u6b20\u3051\u305f\u308a\u3001\u6b63\u3057\u304f\u7d44\u307f\u7acb\u3066\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u7dda\u6bdb\u306f\u6b63\u5e38\u306b\u52d5\u3051\u306a\u304f\u306a\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u554f\u984c\u304c\u751f\u3058\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u547c\u5438\u5668\u3067\u7570\u7269\u3084\u7d30\u83cc\u3092\u6392\u51fa\u3067\u304d\u305a\u306b\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306b\u81d3\u5668\u306e\u4f4d\u7f6e\u304c\u6b63\u3057\u304f\u6c7a\u307e\u3089\u305a\u3001\u5de6\u53f3\u9006\u3084\u4e0d\u898f\u5247\u306a\u914d\u7f6e\u306b\u306a\u308b<\/li>\n\n\n\n<li>\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u79fb\u52d5\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u4e0d\u598a\u306b\u306a\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306eDNAI2\u306e\u50cd\u304d\u306f\u3001\u5b9f\u9a13\u7528\u306e\u7dd1\u85fb\u300c\u30af\u30e9\u30df\u30c9\u30e2\u30ca\u30b9\uff08Chlamydomonas reinhardtii\uff09\u300d\u3068\u3044\u3046\u30e2\u30c7\u30eb\u751f\u7269\u3067\u3082\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u30d2\u30c8\u3068\u540c\u69d8\u306b\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u7dda\u6bdb\u306e\u52d5\u304d\u304c\u5f31\u304f\u306a\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E5%99%A8%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u547c\u5438\u5668\u7cfb\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u76f4\u5f8c\u306e\u547c\u5438\u56f0\u96e3\uff08\u7d0475%\u4ee5\u4e0a\u306e\u65b0\u751f\u5150\uff09<\/li>\n\n\n\n<li>\u6162\u6027\u7684\u306a\u6e7f\u3063\u305f\u54b3\uff08\u75f0\u3092\u4f34\u3046\u54b3\uff09<\/li>\n\n\n\n<li>\u526f\u9f3b\u8154\u708e\u3084\u9f3b\u3065\u307e\u308a\u3001\u9f3b\u6c34\u304c\u7d9a\u304f<\/li>\n\n\n\n<li>\u7e70\u308a\u8fd4\u3059\u4e2d\u8033\u708e\uff08\u7279\u306b\u5e7c\u5150\u671f\uff09<\/li>\n\n\n\n<li>\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\uff08\u80ba\u306e\u4e00\u90e8\u304c\u58ca\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\uff09<\/li>\n\n\n\n<li>\u6307\u5148\u3084\u722a\u304c\u4e38\u304f\u3075\u304f\u3089\u3080\u300c\u3070\u3061\u6307\u300d<\/li>\n\n\n\n<li>\u7a00\u306b\u77f3\u306e\u3088\u3046\u306a\u75f0\uff08lithoptysis\uff09\u304c\u51fa\u308b\u3053\u3068\u3082<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%85%E8%87%93%E3%81%AE%E5%B7%A6%E5%8F%B3%E7%95%B0%E5%B8%B8\"><\/span>\u5185\u81d3\u306e\u5de6\u53f3\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5185\u81d3\u9006\u4f4d\uff08situs inversus totalis\uff09\uff1a\u5fc3\u81d3\u304c\u53f3\u5074\u3001\u80c3\u304c\u53f3\u5074\u306a\u3069<\/li>\n\n\n\n<li>\u7570\u6240\u6027\uff08heterotaxy\uff09\uff1a\u5fc3\u81d3\u3001\u809d\u81d3\u3001\u813e\u81d3\u3001\u8178\u306a\u3069\u306e\u4f4d\u7f6e\u3084\u5f62\u306b\u7570\u5e38\u3042\u308a<br>\u3000\u2514 \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3001\u8840\u7ba1\u7570\u5e38\u306a\u3069\uff09\u3092\u4f34\u3046\u3053\u3068\u3082<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E6%AE%96%E5%99%A8%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u751f\u6b96\u5668\u7cfb\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7537\u6027\uff1a\u307b\u307c\u5168\u4f8b\u3067\u4e0d\u598a\uff08\u7cbe\u5b50\u304c\u52d5\u304b\u306a\u3044\uff09<\/li>\n\n\n\n<li>\u5973\u6027\uff1a\u5375\u5b50\u306e\u79fb\u52d5\u304c\u9045\u308c\u308b\u3053\u3068\u3067\u4e0d\u598a\u3084\u5b50\u5bae\u5916\u598a\u5a20\u306e\u30ea\u30b9\u30af<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E8%A6%9A%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u8074\u899a\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53cd\u5fa9\u3059\u308b\u4e2d\u8033\u708e\u306b\u3088\u3063\u3066\u4e00\u6642\u7684\u307e\u305f\u306f\u6c38\u4e45\u7684\u306a\u96e3\u8074<\/li>\n\n\n\n<li>\u5e7c\u5150\u671f\u306e\u8a00\u8449\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u3082<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>\u305d\u306e\u4ed6\u306e\u307e\u308c\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u982d\u75c7\uff08\u8133\u306e\u4e2d\u306b\u6c34\u304c\u305f\u307e\u308b\uff09<\/li>\n\n\n\n<li>\u9aa8\u3084\u6ccc\u5c3f\u5668\u3001\u751f\u6b96\u5668\u306e\u5947\u5f62<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u8907\u6570\u306e\u691c\u67fb\u3084\u8a55\u4fa1\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002\u65e5\u672c\u3067\u306f\u4ee5\u4e0b\u306e\u6d41\u308c\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E6%89%80%E8%A6%8B\"><\/span>\u81e8\u5e8a\u7684\u306a\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u75c7\u72b6\uff08\u547c\u5438\u56f0\u96e3\u3084\u80ba\u708e\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u6162\u6027\u7684\u306a\u9f3b\u3065\u307e\u308a\u3084\u526f\u9f3b\u8154\u708e<\/li>\n\n\n\n<li>\u304f\u308a\u8fd4\u3059\u4e2d\u8033\u708e<\/li>\n\n\n\n<li>\u5185\u81d3\u9006\u4f4d\u307e\u305f\u306f\u7570\u6240\u6027<\/li>\n\n\n\n<li>\u7537\u6027\u4e0d\u598a\u307e\u305f\u306f\u540c\u69d8\u306e\u5bb6\u65cf\u6b74<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E6%96%B9%E6%B3%95%EF%BC%88%E6%97%A5%E6%9C%AC%E3%81%AE%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96%E3%81%AB%E6%BA%96%E6%8B%A0%EF%BC%89\"><\/span>\u691c\u67fb\u65b9\u6cd5\uff08\u65e5\u672c\u306e\u8a3a\u65ad\u57fa\u6e96\u306b\u6e96\u62e0\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\uff08nNO\uff09\u6e2c\u5b9a\uff1a\u591a\u304f\u306ePCD\u60a3\u8005\u3067\u6975\u7aef\u306b\u4f4e\u5024\uff08&lt;77 nL\/min\uff09<\/li>\n\n\n\n<li>\u9ad8\u901f\u30d3\u30c7\u30aa\u89e3\u6790\uff08HSVA\uff09\uff1a\u7dda\u6bdb\u306e\u52d5\u304d\u304c\u300c\u7121\u52d5\u300d\u307e\u305f\u306f\u300c\u3061\u3089\u3064\u304f\u3088\u3046\u306a\u52d5\u304d\u300d<\/li>\n\n\n\n<li>\u96fb\u5b50\u9855\u5fae\u93e1\uff08EM\uff09\uff1aODA\u306e\u5b8c\u5168\u307e\u305f\u306f\u90e8\u5206\u6b20\u640d\uff08Class 1\uff09\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li>\u514d\u75ab\u86cd\u5149\u67d3\u8272\uff1aDNAI2\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6b20\u5982\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff1aDNAI2\u3084\u305d\u306e\u4ed6\u306ePCD\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b<\/li>\n<\/ul>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u89e3\u6790\u304c\u96e3\u3057\u3044\u30b1\u30fc\u30b9\u3067\u306f\u3001iPS\u7d30\u80de\uff08\u4eba\u5de5\u591a\u80fd\u6027\u5e79\u7d30\u80de\uff09\u7531\u6765\u306e\u7dda\u6bdb\u7d30\u80de\u3092\u4f7f\u3063\u305f\u6a5f\u80fd\u89e3\u6790\u3082\u5b9f\u65bd\u3055\u308c\u307e\u3059\uff08\u7279\u306b\u7814\u7a76\u6a5f\u95a2\u306b\u3066\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>PCD\u306b\u306f\u73fe\u5728\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u5b8c\u6cbb\u3092\u76ee\u6307\u3059\u6cbb\u7642\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u6cbb\u7642\u306e\u76ee\u6a19\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>\u547c\u5438\u5668\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75f0\u3092\u51fa\u3057\u3084\u3059\u304f\u3059\u308b\u7406\u5b66\u7642\u6cd5\uff08\u6392\u75f0\u6cd5\uff09<\/li>\n\n\n\n<li>\u53bb\u75f0\u85ac\u3084\u9ad8\u5f35\u98df\u5869\u6c34\u306e\u5438\u5165<\/li>\n\n\n\n<li>\u611f\u67d3\u6642\u306e\u6297\u751f\u7269\u8cea\u306e\u4f7f\u7528<\/li>\n\n\n\n<li>\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u3084\u80ba\u708e\u7403\u83cc\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%B3%E9%BC%BB%E5%92%BD%E5%96%89%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span>\u8033\u9f3b\u54bd\u5589\u79d1\u7684\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u8033\u708e\u3078\u306e\u5bfe\u51e6\uff08\u9f13\u819c\u30c1\u30e5\u30fc\u30d6\u7559\u7f6e\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u8074\u529b\u4f4e\u4e0b\u3078\u306e\u5bfe\u5fdc\uff08\u88dc\u8074\u5668\u3001\u8a00\u8a9e\u7642\u6cd5\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%81%A8%E7%94%9F%E6%AE%96%E5%8C%BB%E7%99%82\"><\/span>\u598a\u5a20\u30fb\u51fa\u7523\u3068\u751f\u6b96\u533b\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7537\u6027\u306f\u4f53\u5916\u53d7\u7cbe\uff08ICSI\u306a\u3069\uff09\u304c\u5fc5\u8981\u306a\u5834\u5408\u3042\u308a<\/li>\n\n\n\n<li>\u5973\u6027\u306f\u598a\u5a20\u53ef\u80fd\u306a\u3053\u3068\u3082\u3042\u308b\u304c\u3001\u5b50\u5bae\u5916\u598a\u5a20\u306a\u3069\u306e\u30ea\u30b9\u30af\u306b\u6ce8\u610f<\/li>\n\n\n\n<li>\u598a\u5a20\u5e0c\u671b\u6642\u306f\u5c02\u9580\u533b\u306b\u3088\u308b\u547c\u5438\u72b6\u614b\u306e\u8a55\u4fa1\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%88%E9%80%B2%E7%9A%84%E6%B2%BB%E7%99%82%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span>\u5148\u9032\u7684\u6cbb\u7642\u306e\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d<br>\u3000\u2514 DNAI1\u3084DNAI2\u306a\u3069\u3078\u306e\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3084CRISPR\/Cas9\u6280\u8853\u306b\u3088\u308b\u6cbb\u7642\u304c\u5b9f\u9a13\u6bb5\u968e<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/10q22-3-q23-2-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff08SHFM3\uff09- 10q24 <\/div>\n          <div class=\"blog-card-excerpt\">SHFM3\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff09\u306f\u3001\u624b\u3084\u8db3\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u73cd\u3057\u3044\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u539f\u56e0\u3068\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e88\u5f8c\uff08\u75c5\u6c17\u306e\u7d4c\u904e\uff09\u306f\u3001\u4ee5\u4e0b\u306e\u8981\u56e0\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u308b\u304b\u3069\u3046\u304b<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u306e\u72b6\u614b\uff08\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306e\u9032\u884c\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5185\u81d3\u306e\u7570\u5e38\u3084\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u3078\u306e\u5bfe\u7b56\u304c\u7d99\u7d9a\u3067\u304d\u308b\u304b<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u3044\u6bb5\u968e\u3067PCD\u304c\u898b\u3064\u304b\u308a\u3001\u547c\u5438\u5668\u3084\u611f\u67d3\u5bfe\u7b56\u304c\u3057\u3063\u304b\u308a\u884c\u308f\u308c\u308c\u3070\u3001\u591a\u304f\u306e\u65b9\u306f\u6210\u4eba\u5f8c\u3082\u826f\u597d\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u4e2d\u5e74\u671f\u4ee5\u964d\u306b\u80ba\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u500b\u3005\u306e\u7d4c\u904e\u306b\u306f\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4eba\u306e\u4f53\u3092\u3064\u304f\u308b\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u3082\u306e\u3002\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u304b\u3089\u534a\u5206\u305a\u3064\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>DNAI2\u907a\u4f1d\u5b50\uff08DNAI2 gene\uff09<\/strong><strong><br><\/strong> \u7dda\u6bdb\u3068\u3044\u3046\u7d30\u304b\u3044\u6bdb\u306e\u52d5\u304d\u306b\u95a2\u4fc2\u3059\u308b\u300c\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08Outer Dynein Arm\uff09\u300d\u3068\u3044\u3046\u90e8\u5206\u3092\u3064\u304f\u308b\u305f\u3081\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u7dda\u6bdb\u304c\u3046\u307e\u304f\u52d5\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u306e\u4e21\u65b9\u304b\u3089\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u30bf\u30a4\u30d7\u3067\u3059\u3002\u89aa\u306f\u3075\u3064\u3046\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u7dda\u6bdb\uff08Cilia\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u306b\u3042\u308b\u3068\u3066\u3082\u5c0f\u3055\u306a\u300c\u6bdb\u300d\u306e\u3088\u3046\u306a\u69cb\u9020\u3067\u3001\u7a7a\u6c17\u306e\u901a\u308a\u9053\u3092\u304d\u308c\u3044\u306b\u3057\u305f\u308a\u3001\u4f53\u306e\u4e2d\u306e\u3044\u308d\u3044\u308d\u306a\u52d5\u304d\u3092\u52a9\u3051\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u52d5\u304f\u7dda\u6bdb\uff08Motile Cilia\uff09<\/strong><strong><br><\/strong> \u81ea\u5206\u3067\u30ea\u30ba\u30e0\u3088\u304f\u52d5\u3051\u308b\u7dda\u6bdb\u306e\u3053\u3068\u3002\u547c\u5438\u3092\u52a9\u3051\u308b\u305f\u3081\u306b\u3001\u9f3b\u3084\u6c17\u7ba1\u306a\u3069\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\uff08Primary Ciliary Dyskinesia, PCD\uff09<\/strong><strong><br><\/strong> \u751f\u307e\u308c\u3064\u304d\u7dda\u6bdb\u306e\u52d5\u304d\u306b\u7570\u5e38\u304c\u3042\u308b\u75c5\u6c17\u3067\u3001\u54b3\u304c\u7d9a\u3044\u305f\u308a\u3001\u9f3b\u304c\u3064\u307e\u3063\u305f\u308a\u3001\u4e2d\u8033\u708e\u306b\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08Outer Dynein Arm, ODA\uff09<\/strong><strong><br><\/strong> \u7dda\u6bdb\u3092\u52d5\u304b\u3059\u30e2\u30fc\u30bf\u30fc\u306e\u3088\u3046\u306a\u90e8\u5206\u3002\u3053\u308c\u304c\u6b63\u3057\u304f\u3064\u304f\u3089\u308c\u306a\u3044\u3068\u7dda\u6bdb\u304c\u52d5\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\uff08Nasal Nitric Oxide, nNO\uff09<\/strong><strong><br><\/strong> \u9f3b\u306e\u4e2d\u3067\u3064\u304f\u3089\u308c\u308b\u30ac\u30b9\u3002PCD\u306e\u4eba\u306f\u3068\u3066\u3082\u5c11\u306a\u3044\u5024\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a3a\u65ad\u306e\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\uff08Bronchiectasis\uff09<\/strong><strong><br><\/strong> \u80ba\u306e\u4e2d\u306e\u7a7a\u6c17\u306e\u901a\u308a\u9053\u304c\u5e83\u304c\u3063\u3066\u58ca\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u3002\u54b3\u3084\u75f0\u304c\u7d9a\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5185\u81d3\u9006\u4f4d\uff08Situs Inversus\uff09<\/strong><strong><br><\/strong> \u5fc3\u81d3\u3084\u80c3\u306a\u3069\u306e\u4f4d\u7f6e\u304c\u3001\u5de6\u53f3\u9006\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3002PCD\u306e\u4eba\u306e\u7d04\u534a\u5206\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7570\u6240\u6027\uff08Heterotaxy\uff09<\/strong><strong><br><\/strong> \u5185\u81d3\u306e\u4f4d\u7f6e\u304c\u30d0\u30e9\u30d0\u30e9\u306b\u306a\u3063\u305f\u308a\u3001\u5fc3\u81d3\u306b\u751f\u307e\u308c\u3064\u304d\u306e\u75c5\u6c17\u304c\u3042\u3063\u305f\u308a\u3059\u308b\u72b6\u614b\u3002\u3088\u308a\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e2d\u8033\u708e\uff08Otitis Media\uff09<\/strong><strong><br><\/strong> \u8033\u306e\u5965\uff08\u4e2d\u8033\uff09\u306b\u708e\u75c7\u3084\u611f\u67d3\u304c\u8d77\u3053\u308b\u3053\u3068\u3002PCD\u306e\u5b50\u3069\u3082\u306b\u306f\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e0d\u598a\uff08Infertility\uff09<\/strong><strong><br><\/strong> \u8d64\u3061\u3083\u3093\u3092\u6388\u304b\u308b\u3053\u3068\u304c\u96e3\u3057\u304f\u306a\u308b\u72b6\u614b\u3002\u7537\u6027\u3067\u306f\u7cbe\u5b50\u304c\u52d5\u304b\u305a\u3001\u5973\u6027\u3067\u3082\u5375\u5b50\u306e\u79fb\u52d5\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u751f\u6b96\u88dc\u52a9\u533b\u7642\uff08Assisted Reproductive Technology, ART\uff09<\/strong><strong><br><\/strong> \u8d64\u3061\u3083\u3093\u3092\u671b\u3080\u65b9\u306e\u305f\u3081\u306b\u3001\u533b\u7642\u306e\u529b\u3067\u598a\u5a20\u3092\u52a9\u3051\u308b\u65b9\u6cd5\u3002\u4f53\u5916\u53d7\u7cbe\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u96fb\u5b50\u9855\u5fae\u93e1\uff08Transmission Electron Microscopy, TEM\uff09<\/strong><strong><br><\/strong> \u3068\u3066\u3082\u5c0f\u3055\u306a\u69cb\u9020\uff08\u7dda\u6bdb\u306a\u3069\uff09\u3092\u8a73\u3057\u304f\u898b\u308b\u305f\u3081\u306e\u7279\u5225\u306a\u9855\u5fae\u93e1\u3067\u3059\u3002\u7dda\u6bdb\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u3068\u304d\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u9ad8\u901f\u30d3\u30c7\u30aa\u89e3\u6790\uff08High-Speed Video Microscopy, HSVM\uff09<\/strong><strong><br><\/strong> \u7dda\u6bdb\u304c\u3069\u306e\u3088\u3046\u306b\u52d5\u3044\u3066\u3044\u308b\u304b\u3092\u65e9\u9001\u308a\u306e\u3088\u3046\u306b\u8a73\u3057\u304f\u89b3\u5bdf\u3059\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u514d\u75ab\u86cd\u5149\u67d3\u8272\uff08Immunofluorescence\uff09<\/strong><strong><br><\/strong> \u7dda\u6bdb\u306e\u4e2d\u306e\u7279\u5b9a\u306e\u305f\u3093\u3071\u304f\u8cea\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u5149\u308b\u8272\u3067\u8abf\u3079\u308b\u65b9\u6cd5\u3067\u3059\u3002DNAI2\u306e\u305f\u3093\u3071\u304f\u8cea\u304c\u6b20\u3051\u3066\u3044\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>iPS\u7d30\u80de\u691c\u67fb\uff08iPS Cell-Based Testing\uff09<\/strong><strong><br><\/strong> \u81ea\u5206\u306e\u7d30\u80de\u304b\u3089\u4eba\u5de5\u7684\u306b\u3064\u304f\u3063\u305f\u7dda\u6bdb\u3092\u4f7f\u3063\u3066\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u78ba\u304b\u3081\u308b\u6700\u65b0\u306e\u691c\u67fb\u3067\u3059\u3002\u307e\u3060\u9650\u3089\u308c\u305f\u65bd\u8a2d\u3067\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>CRISPR\u907a\u4f1d\u5b50\u7de8\u96c6\uff08CRISPR Gene Editing\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u76f4\u3059\u6700\u5148\u7aef\u306e\u6280\u8853\u3002\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6392\u75f0\u6cd5\uff08Airway Clearance Therapy\uff09<\/strong><strong><br><\/strong> \u75f0\uff08\u305f\u3093\uff09\u3092\u5916\u306b\u51fa\u3057\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u4f53\u306e\u52d5\u304d\u3084\u547c\u5438\u306e\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3067\u3059\u3002\u6bce\u65e5\u306e\u30b1\u30a2\u306b\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6c17\u9053\u611f\u67d3\uff08Respiratory Infection\uff09<\/strong><strong><br><\/strong> \u98a8\u90aa\u3084\u80ba\u708e\u306a\u3069\u3001\u547c\u5438\u306e\u901a\u308a\u9053\u306b\u8d77\u3053\u308b\u611f\u67d3\u75c7\u3002PCD\u3067\u306f\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u3001\u4e88\u9632\u3068\u65e9\u3081\u306e\u6cbb\u7642\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/\">Zariwala MA, Despotes KA, Davis SD. Primary Ciliary Dyskinesia. 2007 Jan 24 [Updated 2025 May 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2022.1017280\">Al-Mutairi, Dalal A., et al. \u2018Identification of a Novel Founder Variant in DNAI2 Cause Primary Ciliary Dyskinesia in Five Consanguineous Families Derived from a Single Tribe Descendant of Arabian Peninsula\u2019. Frontiers in Genetics, vol. 13, Oct. 2022, p. 1017280. DOI.org (Crossref), https:\/\/doi.org\/10.3389\/fgene.2022.1017280.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jcm10215102.\">Alsamri, Mohammed T., et al. \u2018A Study on the Genetics of Primary Ciliary Dyskinesia\u2019. Journal of Clinical Medicine, vol. 10, no. 21, Oct. 2021, p. 5102. DOI.org (Crossref), https:\/\/doi.org\/10.3390\/jcm10215102.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.anl.2024.02.001\">Takeuchi, Kazuhiko, et al. \u2018Practical Guide for the Diagnosis and Management of Primary Ciliary Dyskinesia\u2019. Auris Nasus Larynx, vol. 51, no. 3, Jun. 2024, pp. 553\u201368. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.anl.2024.02.001.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1089\/hum.2023.102\">Keiser, Nicholas W., et al. \u2018Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia\u2019. Human Gene Therapy, vol. 34, no. 17\u201318, Sep. 2023, pp. 821\u201335. DOI.org (Crossref), https:\/\/doi.org\/10.1089\/hum.2023.102.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. 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