{"id":101559,"date":"2025-06-17T14:09:54","date_gmt":"2025-06-17T05:09:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101559"},"modified":"2026-03-04T11:29:41","modified_gmt":"2026-03-04T02:29:41","slug":"cln3-juvenile-batten-disease-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/","title":{"rendered":"\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c73\u578b\uff08CLN3\u75c5\uff09\u3010CLN3\u3011"},"content":{"rendered":"\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\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 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%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\/cln3-juvenile-batten-disease-overview\/#%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\/cln3-juvenile-batten-disease-overview\/#%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\/cln3-juvenile-batten-disease-overview\/#%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\/cln3-juvenile-batten-disease-overview\/#%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\/cln3-juvenile-batten-disease-overview\/#%E5%88%9D%E6%9C%9F%E7%97%87%E7%8A%B6%EF%BC%884%E3%80%9C8%E6%AD%B3%EF%BC%89\" >\u521d\u671f\u75c7\u72b6\uff084\u301c8\u6b73\uff09<\/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\/cln3-juvenile-batten-disease-overview\/#%E4%B8%AD%E6%9C%9F%E4%BB%A5%E9%99%8D%EF%BC%8810%E3%80%9C20%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\" >\u4e2d\u671f\u4ee5\u964d\uff0810\u301c20\u6b73\u3054\u308d\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E3%82%B1%E3%82%A2\" >\u5bfe\u75c7\u7642\u6cd5\u3068\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E5%B0%86%E6%9D%A5%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%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><\/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    CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u306f\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306b\u8996\u529b\u306e\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308b\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u306e\u75c5\u6c17\u3067\u3059\u3002<br>\n    \u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u5b66\u7fd2\u80fd\u529b\u3001\u8a00\u8a9e\u80fd\u529b\u3001\u904b\u52d5\u6a5f\u80fd\u304c\u5c11\u3057\u305a\u3064\u5f71\u97ff\u3092\u53d7\u3051\u3001\u3066\u3093\u304b\u3093\u3084\u5fc3\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<br>\n    \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u75c5\u6c17\u306e\u3057\u304f\u307f\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u6cbb\u7642\u65b9\u6cd5\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<br>\n    \u5c11\u3057\u3067\u3082\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u6e1b\u3089\u3057\u3001\u533b\u7642\u30b9\u30bf\u30c3\u30d5\u3068\u3088\u308a\u826f\u304f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308b\u305f\u3081\u306e\u52a9\u3051\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<br>\n    CLN3\u75c5\u3068\u8a3a\u65ad\u3055\u308c\u305f\u304a\u5b50\u3055\u3093\u3001\u3054\u5bb6\u65cf\u3001\u305d\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u65b9\u3005\u306b\u3068\u3063\u3066\u3001\u5927\u5207\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u5185\u5bb9\u3067\u3059\u3002\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><strong><strong>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/strong><\/strong><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>CLN3<\/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\/06\/CLN3-hgtIdeo_genome_asia_d5568_e3ac0-1024x26.png\" alt=\"CLN3\" class=\"wp-image-101560\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CLN3\uff08\u30b7\u30fc\u30a8\u30eb\u30a8\u30cc\u30b9\u30ea\u30fc\uff09\u95a2\u9023\u75be\u60a3\u306f\u3001\u300cCLN3\u907a\u4f1d\u5b50\u300d\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002CLN3\u907a\u4f1d\u5b50\u306f\u3001\u7b2c16\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0816p12.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u304a\u3088\u305d25,000\u5869\u57fa\u5bfe\u306e\u9577\u3055\u3092\u6301\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\uff08protein-coding gene\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4f5c\u308a\u51fa\u3059\u300c\u30d0\u30c3\u30c6\u30cb\u30f3\uff08battenin\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5185\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\uff08lysosome\uff1a\u7d30\u80de\u306e\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5c0f\u3055\u306a\u5668\u5b98\uff09\u306e\u819c\u306b\u5b58\u5728\u3057\u3001\u7d30\u80de\u5185\u306e\u30b4\u30df\u51e6\u7406\u3084\u518d\u5229\u7528\u306e\u904e\u7a0b\uff08\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\uff1aautophagy\uff09\u3092\u52a9\u3051\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN3\u75be\u60a3\u3067\u6700\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u306f\u3001\u300c1.02 kb\uff08\u30ad\u30ed\u30d9\u30fc\u30b9\uff09\u6b20\u5931\u5909\u7570\u300d\u3068\u547c\u3070\u308c\u308b\u3082\u306e\u3067\u3001\u3053\u308c\u306fCLN3\u907a\u4f1d\u5b50\u306e7\u756a\u30688\u756a\u306e\u30a8\u30af\u30bd\u30f3\uff08\u907a\u4f1d\u5b50\u3092\u69cb\u6210\u3059\u308b\u90e8\u5206\uff09\u304c\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306f\u5168\u4e16\u754c\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0485\uff05\u3067\u78ba\u8a8d\u3055\u308c\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><strong><strong>\u75be\u60a3\u540d | Disorder<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6b63\u5f0f\u540d\u79f0\u306f\u300c\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c73\u578b\uff08Neuronal Ceroid Lipofuscinosis type 3: CLN3\uff09\u300d\u3067\u3059\u3002\u3088\u308a\u4e00\u822c\u7684\u306b\u306f\u3001\u300c\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Juvenile Neuronal Ceroid Lipofuscinosis: JNCL\uff09\u300d\u3084\u300c\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff08Juvenile Batten Disease\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinoses: NCLs\uff09\u3068\u7dcf\u79f0\u3055\u308c\u308b\u4e00\u9023\u306e\u907a\u4f1d\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306e\u3072\u3068\u3064\u3067\u3001\u8133\u3084\u76ee\u306e\u7d30\u80de\u306b\u86cd\u5149\u6027\u306e\u8102\u6027\u8272\u7d20\uff08\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3084\u30bb\u30ed\u30a4\u30c9\uff09\u304c\u7570\u5e38\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5c11\u3057\u305a\u3064\u640d\u306a\u308f\u308c\u3066\u3044\u304d\u307e\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><strong><strong>\u6982\u8981 | Overview<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3\u75c5\u306f\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3001\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u767a\u75c7\u3059\u308b\u307e\u3067\u306f\u666e\u901a\u306b\u767a\u9054\u3057\u3066\u3044\u305f\u304a\u5b50\u3055\u3093\u304c\u30014\u301c7\u6b73\u3054\u308d\u306b\u8996\u529b\u304c\u6025\u306b\u4f4e\u4e0b\u3057\u59cb\u3081\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5f8c\u3001\u5b66\u7fd2\u306e\u9045\u308c\u3001\u3053\u3068\u3070\u306e\u9000\u884c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u73fe\u308c\u3001\u75c5\u72b6\u306f\u5f90\u3005\u306b\u9032\u884c\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u7d30\u80de\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u300c\u6307\u7d0b\u72b6\u30a4\u30f3\u30af\u30eb\u30fc\u30b8\u30e7\u30f3\uff08fingerprint profile\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u6709\u306e\u6a21\u69d8\u3092\u6301\u3064\u8102\u6027\u8272\u7d20\u304c\u305f\u307e\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u7279\u306b\u8133\u3068\u7db2\u819c\uff08\u76ee\u306e\u5965\u306e\u5149\u3092\u611f\u3058\u308b\u7d44\u7e54\uff09\u3067\u306e\u84c4\u7a4d\u304c\u9855\u8457\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\uff08\u6839\u6cbb\u7642\u6cd5\uff09\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306e\u7de9\u548c\u3084\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u3092\u76ee\u7684\u3068\u3057\u305f\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u63f4\u3084\u3001\u81e8\u5e8a\u8a66\u9a13\u3078\u306e\u53c2\u52a0\u306a\u3069\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/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><strong>\u75ab\u5b66 | Epidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3\u75c5\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a>\uff08autosomal recessive inheritance\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u306e\u4e21\u65b9\u304b\u3089\u7570\u5e38\u306aCLN3\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u5f62\u5f0f\u3067\u3059\u3002<\/p>\n\n\n\n<p>CLN3\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u4e0d\u8981\u7269\u51e6\u7406\u30b7\u30b9\u30c6\u30e0\uff08\u30ea\u30bd\u30bd\u30fc\u30e0\uff09\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u75c5\u6c17\u306b\u306a\u308b\u3068\u3053\u306e\u6a5f\u80fd\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u30bb\u30ed\u30a4\u30c9\u3084\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3068\u3044\u3046\u8001\u5ec3\u7269\u304c\u795e\u7d4c\u7d30\u80de\u306a\u3069\u306b\u84c4\u7a4d\u3055\u308c\u3001\u6700\u7d42\u7684\u306b\u7d30\u80de\u6b7b\u304c\u9032\u884c\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u84c4\u7a4d\u304c\u9032\u3080\u3068\u3001\u8996\u899a\u3001\u904b\u52d5\u3001\u8a8d\u77e5\u3001\u884c\u52d5\u3068\u3044\u3063\u305f\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u6a5f\u80fd\u304c\u5c11\u3057\u305a\u3064\u640d\u306a\u308f\u308c\u3066\u3044\u304d\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><strong><strong>\u75c5\u56e0 | Etiology<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3\u75c5\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a>\uff08autosomal recessive inheritance\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u306e\u4e21\u65b9\u304b\u3089\u7570\u5e38\u306aCLN3\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u5f62\u5f0f\u3067\u3059\u3002<\/p>\n\n\n\n<p>CLN3\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u4e0d\u8981\u7269\u51e6\u7406\u30b7\u30b9\u30c6\u30e0\uff08\u30ea\u30bd\u30bd\u30fc\u30e0\uff09\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u75c5\u6c17\u306b\u306a\u308b\u3068\u3053\u306e\u6a5f\u80fd\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u30bb\u30ed\u30a4\u30c9\u3084\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3068\u3044\u3046\u8001\u5ec3\u7269\u304c\u795e\u7d4c\u7d30\u80de\u306a\u3069\u306b\u84c4\u7a4d\u3055\u308c\u3001\u6700\u7d42\u7684\u306b\u7d30\u80de\u6b7b\u304c\u9032\u884c\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u84c4\u7a4d\u304c\u9032\u3080\u3068\u3001\u8996\u899a\u3001\u904b\u52d5\u3001\u8a8d\u77e5\u3001\u884c\u52d5\u3068\u3044\u3063\u305f\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u6a5f\u80fd\u304c\u5c11\u3057\u305a\u3064\u640d\u306a\u308f\u308c\u3066\u3044\u304d\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><strong>\u75c7\u72b6 | Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%9D%E6%9C%9F%E7%97%87%E7%8A%B6%EF%BC%884%E3%80%9C8%E6%AD%B3%EF%BC%89\"><\/span>\u521d\u671f\u75c7\u72b6\uff084\u301c8\u6b73\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u4f4e\u4e0b\uff1a\u6700\u3082\u65e9\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3001\u7db2\u819c\u304c\u5909\u6027\u3057\u3001\u6025\u6fc0\u306b\u8996\u529b\u304c\u843d\u3061\u307e\u3059\u300210\u6b73\u3054\u308d\u307e\u3067\u306b\u6cd5\u7684\u5931\u660e\uff08legal blindness\uff09\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u56f0\u96e3\u30fb\u8a00\u8449\u306e\u9000\u884c\uff1a\u65b0\u3057\u3044\u3053\u3068\u3092\u899a\u3048\u308b\u306e\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u8a71\u305b\u3066\u3044\u305f\u8a00\u8449\u3092\u5fd8\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff1a\u591c\u4e2d\u306b\u4f55\u5ea6\u3082\u8d77\u304d\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u7720\u308c\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%AD%E6%9C%9F%E4%BB%A5%E9%99%8D%EF%BC%8810%E3%80%9C20%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\"><\/span>\u4e2d\u671f\u4ee5\u964d\uff0810\u301c20\u6b73\u3054\u308d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\uff1a\u624b\u8db3\u304c\u3053\u308f\u3070\u3063\u305f\u308a\u3001\u52d5\u304d\u304c\u9045\u304f\u306a\u3063\u305f\u308a\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u3068\u308b\u306e\u304c\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u969c\u5bb3\uff1a\u8a00\u8449\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\uff08\u69cb\u97f3\u969c\u5bb3\uff1adysarthria\uff09\u3001\u8a00\u3044\u3088\u3069\u3080\uff08\u795e\u7d4c\u6027\u5403\u97f3\uff1aneurogenic stuttering\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6\uff1a\u4e00\u90e8\u306e\u65b9\u3067\u306f\u3001\u5e7b\u899a\u3084\u5984\u60f3\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u30ea\u30ba\u30e0\u7570\u5e38\uff08\u4e0d\u6574\u8108\uff09\uff1a\u6210\u4eba\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u30fb\u56a5\u4e0b\u56f0\u96e3\uff1a\u9032\u884c\u3059\u308b\u3068\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3010ACADM\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e3b\u306b\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\u306a\u3069\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\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><strong><strong>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u767a\u898b\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u884c\u308f\u308c\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672b\u68a2\u8840\u5857\u62b9\u691c\u67fb\uff08\u8840\u6db2\u3092\u9855\u5fae\u93e1\u3067\u898b\u308b\u691c\u67fb\uff09<br>\u2192 \u7a7a\u80de\u5316\u30ea\u30f3\u30d1\u7403\uff08vacuolated lymphocytes\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001CLN3\u75c5\u306e\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7db2\u819c\u96fb\u56f3\u691c\u67fb\uff08ERG: electroretinography\uff09<br>\u2192 \u7db2\u819c\u306e\u5149\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u3092\u898b\u308b\u691c\u67fb\u3067\u3001CLN3\u75c5\u3067\u306fa\u6ce2\u3088\u308ab\u6ce2\u304c\u5c0f\u3055\u3044\u201c\u30cd\u30ac\u30c6\u30a3\u30d6ERG\u201d\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u7684\u306a\u6ce2\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09<br>\u2192 \u7db2\u819c\u306e\u69cb\u9020\u3092\u8a73\u3057\u304f\u89b3\u5bdf\u3059\u308b\u3082\u306e\u3067\u3001CLN3\u75c5\u3067\u306f\u7db2\u819c\u4e2d\u5fc3\u306e\u5c64\u69cb\u9020\u306e\u5d29\u308c\u3084\u8584\u5316\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb<br>\u2192 CLN3\u907a\u4f1d\u5b50\u306e1.02 kb\u6b20\u5931\u306e\u6709\u7121\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u305d\u306e\u4ed6\u306e\u5909\u7570\u3082\u78ba\u8a8d\u3055\u308c\u308b\u305f\u3081\u3001\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790\u304c\u5fc5\u8981\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb<br>\u2192 \u6c57\u817a\u3084\u7d50\u819c\u306a\u3069\u306e\u7d44\u7e54\u3092\u7528\u3044\u3001\u300c\u6307\u7d0b\u72b6\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u5c01\u5165\u4f53\uff08fingerprint inclusion\uff09\u300d\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6ce2\uff08EEG\uff09\u3084MRI\u691c\u67fb<br>\u2192 \u3066\u3093\u304b\u3093\u6ce2\u5f62\u3084\u8133\u306e\u840e\u7e2e\u306a\u3069\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u8a55\u4fa1\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u9069\u5fdc\u884c\u52d5\u8a55\u4fa1\uff08Vineland-3\uff09\u30fbBatten\u75c5\u8a55\u4fa1\u30b9\u30b1\u30fc\u30eb\uff08UBDRS\uff09<br>\u2192 \u65e5\u5e38\u751f\u6d3b\u80fd\u529b\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u5909\u5316\u3092\u6e2c\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u75c5\u6c17\u306e\u9032\u884c\u5ea6\u3092\u628a\u63e1\u3057\u307e\u3059\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><strong><strong>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001CLN3\u75c5\u306b\u5bfe\u3057\u3066\u627f\u8a8d\u3055\u308c\u305f\u6839\u672c\u6cbb\u7642\uff08\u75c5\u6c17\u306e\u9032\u884c\u3092\u6b62\u3081\u308b\u6cbb\u7642\uff09\u306f\u5b58\u5728\u3057\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u7de9\u3084\u304b\u306b\u3057\u305f\u308a\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u3055\u307e\u3056\u307e\u306a\u5bfe\u7b56\u304c\u3068\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E3%82%B1%E3%82%A2\"><\/span>\u5bfe\u75c7\u7642\u6cd5\u3068\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\uff1a\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u306a\u3069<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\u306e\u7ba1\u7406\uff1a\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u3001\u7406\u5b66\u7642\u6cd5<\/li>\n\n\n\n<li>\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff1a\u8a00\u8a9e\u7642\u6cd5\u3001\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u6a5f\u5668\u306e\u5c0e\u5165<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\uff1a\u56a5\u4e0b\u56f0\u96e3\u306b\u5bfe\u3057\u3066\u7d4c\u7ba1\u6804\u990a\u306e\u691c\u8a0e<\/li>\n\n\n\n<li>\u7cbe\u795e\u30fb\u884c\u52d5\u652f\u63f4\uff1a\u4e0d\u5b89\u3001\u5f37\u8feb\u75c7\u72b6\u3001\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u306b\u5bfe\u3059\u308b\u30b1\u30a2<\/li>\n\n\n\n<li>\u591a\u8077\u7a2e\u9023\u643a\uff08multidisciplinary care\uff09\uff1a\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u773c\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u5fc3\u7406\u58eb\u3001\u7de9\u548c\u30b1\u30a2\u30c1\u30fc\u30e0\u306a\u3069\u306e\u5354\u529b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span>\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff1a\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305fCLN3\u907a\u4f1d\u5b50\u306e\u88dc\u5145\uff08\u81e8\u5e8a\u8a66\u9a13\u9032\u884c\u4e2d\uff09<\/li>\n\n\n\n<li>\u5206\u5b50\u6a19\u7684\u85ac\u3084\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6cbb\u7642\uff1a\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span><strong><strong>\u4e88\u5f8c | Prognosis<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3\u75c5\u306f\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u3086\u3063\u304f\u308a\u3068\u9032\u884c\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u500b\u4eba\u5dee\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>10\u6b73\u524d\u5f8c\u3067\u5b8c\u5168\u5931\u660e<\/li>\n\n\n\n<li>10\u4ee3\u5f8c\u534a\u301c20\u4ee3\u3067\u79fb\u52d5\u3084\u4f1a\u8a71\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u8eca\u3044\u3059\u751f\u6d3b\u306b\u306a\u308b<\/li>\n\n\n\n<li>20\u301c30\u6b73\u306e\u9593\u306b\u547d\u3092\u843d\u3068\u3059\u3053\u3068\u304c\u591a\u3044\uff08\u5e73\u5747\u5bff\u547d\u306f20\u301c30\u6b73\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001\u3054\u304f\u307e\u308c\u306b\u3001\u8996\u899a\u969c\u5bb3\u306e\u307f\u3067\u795e\u7d4c\u75c7\u72b6\u3092\u4f34\u308f\u306a\u3044\u201c\u8efd\u75c7\u578bCLN3\u75c5\u201d\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u300130\u4ee3\u4ee5\u964d\u307e\u3067\u751f\u6d3b\u3067\u304d\u308b\u30b1\u30fc\u30b9\u3082\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><strong>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong>\u79c1\u305f\u3061\u306e\u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002\u4e21\u89aa\u304b\u3089\u534a\u5206\u305a\u3064\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002\u4f53\u306e\u50cd\u304d\u3084\u75c5\u6c17\u306e\u306a\u308a\u3084\u3059\u3055\u306b\u3082\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CLN3\u907a\u4f1d\u5b50\uff08CLN3 gene\uff09<\/strong><strong><br><\/strong>\u30ea\u30bd\u30bd\u30fc\u30e0\u3068\u3044\u3046\u7d30\u80de\u306e\u6383\u9664\u5c4b\u3067\u50cd\u304f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u7d30\u80de\u306e\u4e2d\u306b\u30b4\u30df\u304c\u305f\u307e\u308a\u3084\u3059\u304f\u306a\u308a\u3001\u8133\u3084\u76ee\u306a\u3069\u306e\u50cd\u304d\u304c\u3086\u3063\u304f\u308a\u3068\u60aa\u304f\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\"><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong><\/a><strong>\uff08Autosomal Recessive Inheritance\uff09<br><\/strong>\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u306e\u4e21\u65b9\u304b\u3089\u75c5\u6c17\u306e\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u30bf\u30a4\u30d7\u3067\u3059\u3002\u4e21\u89aa\u304c\u5065\u5eb7\u3067\u3082\u3001\u5b50\u3069\u3082\u306b\u75c5\u6c17\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30bd\u30bd\u30fc\u30e0\uff08Lysosome\uff09<\/strong><strong><br><\/strong>\u7d30\u80de\u306e\u4e2d\u306e\u300c\u3054\u307f\u51e6\u7406\u5834\u300d\u306e\u3088\u3046\u306a\u5834\u6240\u3067\u3001\u3044\u3089\u306a\u304f\u306a\u3063\u305f\u3082\u306e\u3092\u5206\u89e3\u30fb\u6574\u7406\u3057\u307e\u3059\u3002\u3053\u306e\u50cd\u304d\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3068\u3001\u7d30\u80de\u306b\u8ca0\u62c5\u304c\u304b\u304b\u3063\u3066\u58ca\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\uff08Ceroid Lipofuscin\uff09<\/strong><strong><br><\/strong>\u58ca\u308c\u305f\u7d30\u80de\u306e\u90e8\u54c1\u3084\u8001\u5ec3\u7269\u304c\u305f\u307e\u3063\u3066\u3067\u304d\u308b\u3001\u9ec4\u8272\u3063\u307d\u3044\u7269\u8cea\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u3001\u3053\u308c\u304c\u8133\u3084\u76ee\u306b\u305f\u307e\u308a\u3001\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis: NCL\uff09<\/strong><strong><br><\/strong>\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u304c\u305f\u307e\u308a\u3001\u8133\u3084\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5c11\u3057\u305a\u3064\u5f31\u304f\u306a\u308b\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002CLN3\u75c5\u3082\u305d\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u82e5\u5e74\u578b\uff08Juvenile\uff09<\/strong><strong><br><\/strong>\u767a\u75c7\u3059\u308b\u5e74\u9f62\u304c\u5b50\u3069\u3082\u306e\u9803\uff08\u3060\u3044\u305f\u30444\u301c8\u6b73\uff09\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d0\u30c3\u30c6\u30f3\u75c5\uff08Batten Disease\uff09<\/strong><strong><br><\/strong>NCL\u306e\u306a\u304b\u3067\u3082CLN3\u75c5\u306a\u3069\u3092\u542b\u3080\u75c5\u6c17\u3092\u307e\u3068\u3081\u3066\u547c\u3076\u3068\u304d\u306e\u4e00\u822c\u7684\u306a\u540d\u524d\u3067\u3059\u3002\u533b\u5e2b\u3084\u56e3\u4f53\u306b\u3088\u3063\u3066\u306f\u3053\u306e\u8a00\u8449\u3092\u4f7f\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>1.02 kb \u6b20\u5931\uff081.02 kb Deletion\uff09<\/strong><strong><br><\/strong>CLN3\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u629c\u3051\u3066\u3044\u308b\u5909\u7570\u306e\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u304c\u3042\u308b\u3068\u3001CLN3\u75c5\u3092\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u3068\u3066\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u30bf\u30a4\u30d7\u306e\u7570\u5e38\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u4f4e\u4e0b\uff08Vision Loss\uff09<\/strong><strong><br><\/strong>CLN3\u75c5\u306e\u6700\u521d\u306e\u30b5\u30a4\u30f3\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u75c7\u72b6\u3067\u3001\u76ee\u304c\u898b\u3048\u306b\u304f\u304f\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u5c0f\u5b66\u6821\u4f4e\u5b66\u5e74\u3054\u308d\u306b\u6c17\u3065\u304f\u3053\u3068\u304c\u591a\u304f\u3001\u9032\u884c\u3059\u308b\u3068\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\uff08Seizure\uff09<\/strong><strong><br><\/strong>\u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u304c\u4e00\u6642\u7684\u306b\u4e71\u308c\u308b\u3053\u3068\u3067\u3001\u4f53\u304c\u3075\u308b\u3048\u305f\u308a\u3001\u610f\u8b58\u3092\u5931\u3063\u305f\u308a\u3059\u308b\u767a\u4f5c\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u601d\u6625\u671f\u3054\u308d\u304b\u3089\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9000\u884c\uff08Developmental Regression\uff09<\/strong><strong><br><\/strong>\u4e00\u5ea6\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u8a00\u8449\u3084\u52d5\u304d\u304c\u3001\u3060\u3093\u3060\u3093\u3067\u304d\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3059\u3002CLN3\u75c5\u306e\u9032\u884c\u3068\u3068\u3082\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7a7a\u80de\u5316\u30ea\u30f3\u30d1\u7403\uff08Vacuolated Lymphocyte\uff09<\/strong><strong><br><\/strong>\u8840\u6db2\u306e\u4e2d\u306b\u3042\u308b\u767d\u8840\u7403\u306e\u4e00\u7a2e\u3067\u3001CLN3\u75c5\u3067\u306f\u4e2d\u306b\u7a7a\u6d1e\u306e\u3088\u3046\u306a\u90e8\u5206\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7c21\u5358\u306a\u8840\u6db2\u691c\u67fb\u3067\u898b\u3064\u3051\u3089\u308c\u308b\u91cd\u8981\u306a\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\uff08\u3082\u3046\u307e\u304f\uff09\uff08Retina\uff09<\/strong><strong><br><\/strong>\u76ee\u306e\u5965\u306b\u3042\u308b\u3001\u5149\u3092\u611f\u3058\u308b\u3046\u3059\u3044\u819c\u3067\u3059\u3002\u3053\u3053\u304c\u50b7\u3080\u3068\u3001\u8996\u529b\u304c\u843d\u3061\u3066\u898b\u3048\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u96fb\u56f3\uff08ERG: Electroretinography\uff09<\/strong><strong><br><\/strong>\u76ee\u306e\u5149\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u3001\u3042\u308b\u7279\u5fb4\u7684\u306a\u6ce2\u5f62\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT: Optical Coherence Tomography\uff09<\/strong><strong><br><\/strong>\u7db2\u819c\u306e\u3046\u3059\u3044\u5c64\u3092\u8a73\u3057\u304f\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u76ee\u306e\u691c\u67fb\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u3001\u7db2\u819c\u306e\u4e2d\u5fc3\u304c\u8584\u304f\u306a\u308b\u69d8\u5b50\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><strong><br><\/strong>\u4f53\u306e\u7d30\u80de\u304b\u3089DNA\u3092\u8abf\u3079\u3066\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002CLN3\u75c5\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u69cb\u97f3\u969c\u5bb3\uff08Dysarthria\uff09<\/strong><strong><br><\/strong>\u8a71\u3059\u3068\u304d\u306e\u820c\u3084\u53e3\u306e\u52d5\u304d\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u3053\u3068\u3070\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002CLN3\u75c5\u304c\u9032\u884c\u3059\u308b\u3068\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC: Augmentative and Alternative Communication\uff09<\/strong><strong><br><\/strong>\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u65b9\u304c\u4f7f\u3046\u3001\u8996\u7dda\u3084\u6587\u5b57\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u6a5f\u68b0\u306a\u3069\u3092\u4f7f\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\u3067\u3059\u3002CLN3\u75c5\u306e\u8a00\u8a9e\u30b5\u30dd\u30fc\u30c8\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u8077\u7a2e\u9023\u643a\uff08Multidisciplinary Care\uff09<\/strong><strong><br><\/strong>\u533b\u5e2b\u3060\u3051\u3067\u306a\u304f\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u5fc3\u7406\u58eb\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u3001\u770b\u8b77\u5e2b\u3001\u6804\u990a\u58eb\u306a\u3069\u304c\u5354\u529b\u3057\u3066\u652f\u3048\u308b\u4f53\u5236\u306e\u3053\u3068\u3067\u3059\u3002CLN3\u75c5\u306e\u3088\u3046\u306a\u9032\u884c\u6027\u306e\u75c5\u6c17\u306b\u306f\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7de9\u548c\u30b1\u30a2\uff08Palliative Care\uff09<\/strong><strong><br><\/strong>\u75c5\u6c17\u3092\u5b8c\u5168\u306b\u6cbb\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u3067\u3082\u3001\u75db\u307f\u3084\u4e0d\u5b89\u3092\u6e1b\u3089\u3057\u3066\u3001\u305d\u306e\u4eba\u3089\u3057\u3044\u751f\u6d3b\u3092\u652f\u3048\u308b\u30b1\u30a2\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u65e9\u671f\u304b\u3089\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u304c\u3059\u3059\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff08Genetic Counseling\uff09<\/strong><\/li>\n\n\n\n<li>\u907a\u4f1d\u306e\u3057\u304f\u307f\u3084\u691c\u67fb\u7d50\u679c\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u3066\u304f\u308c\u308b\u5c02\u9580\u5bb6\uff08\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u3068\u306e\u76f8\u8ac7\u306e\u3053\u3068\u3067\u3059\u3002\u5bb6\u65cf\u8a08\u753b\u306a\u3069\u306e\u76f8\u8ac7\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\"\n  },\n  \"headline\": \"CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u652f\u63f4\u306e\u3059\u3079\u3066\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": 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