{"id":111526,"date":"2025-06-17T14:09:54","date_gmt":"2025-06-17T05:09:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/"},"modified":"2025-08-22T09:41:43","modified_gmt":"2025-08-22T00:41:43","slug":"cln3-juvenile-batten-disease-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/?lang=zh-hans","title":{"rendered":"\u82e5\u5e74\u578b\u795e\u7ecf\u7c7b\u8102\u8910\u7d20\u6c89\u79ef\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\" 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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\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_Disorder\" >\u75be\u75c5\u540d\u79f0 | 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\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0_Overview\" >\u6982\u8ff0 | 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\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_Epidemiology\" >\u6d41\u884c\u75c5\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\/?lang=zh-hans\/#%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\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/?lang=zh-hans\/#%E6%A3%80%E6%B5%8B%E4%B8%8E%E8%AF%8A%E6%96%AD_Testing_Diagnosis\" >\u68c0\u6d4b\u4e0e\u8bca\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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7597\u4e0e\u7ba1\u7406 | Treatment &amp; Management<\/a><\/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\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E_Prognosis\" >\u9884\u540e | Prognosis<\/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\/?lang=zh-hans\/#%E4%B8%93%E4%B8%9A%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A%EF%BD%9CHelpful_Terms\" >\u4e13\u4e1a\u672f\u8bed\u89e3\u91ca\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=\"%E6%B8%A9%E9%A6%A8%E6%80%BB%E7%BB%93\"><\/span>\u6e29\u99a8\u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    CLN3\u75c5\uff08\u9752\u5c11\u5e74\u578b\u5df4\u6ed5\u75c5\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u795e\u7ecf\u75be\u75c5\uff0c\u901a\u5e38\u4ece\u513f\u7ae5\u65f6\u671f\u89c6\u529b\u4e0b\u964d\u5f00\u59cb\u3002<br>\n    \u968f\u7740\u75c5\u60c5\u7684\u8fdb\u5c55\uff0c\u5b66\u4e60\u80fd\u529b\u3001\u8bed\u8a00\u80fd\u529b\u548c\u8fd0\u52a8\u529f\u80fd\u4f1a\u9010\u6e10\u53d7\u5230\u5f71\u54cd\uff0c\u6709\u65f6\u8fd8\u4f1a\u51fa\u73b0\u766b\u75eb\u6216\u5fc3\u7406\u65b9\u9762\u7684\u75c7\u72b6\u3002<br>\n    \u672c\u6587\u7528\u901a\u4fd7\u6613\u61c2\u7684\u8bed\u8a00\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u75be\u75c5\u7684\u673a\u5236\u3001\u8bca\u65ad\u6d41\u7a0b\u3001\u6cbb\u7597\u65b9\u6cd5\u53ca\u65e5\u5e38\u62a4\u7406\u652f\u6301\u3002<br>\n    \u5e0c\u671b\u8fd9\u4e9b\u4fe1\u606f\u80fd\u591f\u51cf\u8f7b\u5bb6\u5ead\u7684\u4e0d\u5b89\uff0c\u5e76\u5e2e\u52a9\u4ed6\u4eec\u66f4\u597d\u5730\u4e0e\u533b\u7597\u56e2\u961f\u6c9f\u901a\u3002<br>\n    \u8fd9\u7bc7\u5185\u5bb9\u4e5f\u4e3a\u88ab\u8bca\u65ad\u4e3aCLN3\u75c5\u7684\u5b69\u5b50\u3001\u5bb6\u4eba\u4ee5\u53ca\u652f\u6301\u4ed6\u4eec\u7684\u4eba\u63d0\u4f9b\u4e86\u91cd\u8981\u7684\u53c2\u8003\u8d44\u6599\u3002\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_Implicated_Genomic_Region\"><\/span><strong><strong><strong>\u57fa\u56e0\u533a\u57df | Implicated Genomic Region<\/strong><\/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>\u4e0e <strong>CLN3<\/strong> \u57fa\u56e0\u76f8\u5173\u7684\u75be\u75c5\u662f\u7531\u4e8e <strong>CLN3 \u57fa\u56e0<\/strong> \u7684\u5f02\u5e38\u6240\u5f15\u8d77\u7684\u3002CLN3 \u57fa\u56e0\u4f4d\u4e8e\u7b2c16\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2\uff0816p12.1\uff09\uff0c\u957f\u5ea6\u7ea6\u4e3a25,000\u4e2a\u78b1\u57fa\u5bf9\uff0c\u662f\u4e00\u4e2a\u7f16\u7801\u86cb\u767d\u8d28\u7684\u57fa\u56e0\uff08protein-coding gene\uff09\u3002\u8be5\u57fa\u56e0\u4ea7\u751f\u4e00\u79cd\u88ab\u79f0\u4e3a <strong>battenin\uff08\u5df4\u6ed5\u5b81\uff09<\/strong> \u7684\u86cb\u767d\u8d28\uff0c\u5b58\u5728\u4e8e\u6eb6\u9176\u4f53\uff08lysosome\uff09\u7684\u819c\u4e0a\u3002\u6eb6\u9176\u4f53\u662f\u7ec6\u80de\u5185\u5206\u89e3\u548c\u56de\u6536\u5e9f\u7269\u7684\u5c0f\u578b\u7ec6\u80de\u5668\uff0c\u800c battenin \u88ab\u8ba4\u4e3a\u5728 <strong>\u81ea\u566c\uff08autophagy\uff09<\/strong> \u7b49\u5e9f\u7269\u6e05\u7406\u4e0e\u518d\u5faa\u73af\u8fc7\u7a0b\u4e2d\u8d77\u7740\u91cd\u8981\u4f5c\u7528\u3002\u5728 CLN3 \u76f8\u5173\u75be\u75c5\u4e2d\uff0c\u6700\u5e38\u89c1\u7684\u57fa\u56e0\u5f02\u5e38\u662f <strong>1.02 kb \u7f3a\u5931\u7a81\u53d8<\/strong>\uff0c\u5373 CLN3 \u57fa\u56e0\u7684\u7b2c7\u548c\u7b2c8\u5916\u663e\u5b50\u7f3a\u5931\u3002\u8fd9\u79cd\u7f3a\u5931\u5728\u5168\u7403\u7ea6 <strong>85% \u7684\u60a3\u8005<\/strong> \u4e2d\u90fd\u53ef\u4ee5\u68c0\u6d4b\u5230\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_Disorder\"><\/span><strong>\u75be\u75c5\u540d\u79f0 | Disorder<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u75be\u75c5\u7684\u6b63\u5f0f\u540d\u79f0\u662f <strong>\u795e\u7ecf\u7c7b\u8102\u8910\u7d20\u6c89\u79ef\u75c73\u578b\uff08Neuronal Ceroid Lipofuscinosis type 3, CLN3\uff09<\/strong>\u3002\u66f4\u5e38\u89c1\u7684\u79f0\u547c\u662f <strong>\u82e5\u5e74\u578b\u795e\u7ecf\u7c7b\u8102\u8910\u7d20\u6c89\u79ef\u75c7\uff08Juvenile Neuronal Ceroid Lipofuscinosis, JNCL\uff09<\/strong> \u6216 <strong>\u82e5\u5e74\u578b\u5df4\u6ed5\u75c5\uff08Juvenile Batten Disease\uff09<\/strong>\u3002<br>\u8be5\u75c5\u5c5e\u4e8e\u4e00\u7ec4\u7edf\u79f0\u4e3a <strong>\u795e\u7ecf\u7c7b\u8102\u8910\u7d20\u6c89\u79ef\u75c7\uff08Neuronal Ceroid Lipofuscinoses, NCLs\uff09<\/strong> \u7684\u9057\u4f20\u6027\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u3002\u8fd9\u4e9b\u75be\u75c5\u7684\u5171\u540c\u7279\u5f81\u662f\u5728\u5927\u8111\u548c\u773c\u775b\u7684\u7ec6\u80de\u4e2d\uff0c\u51fa\u73b0\u5177\u6709\u8367\u5149\u7279\u5f81\u7684\u8102\u6027\u8272\u7d20\uff08\u5982\u7c7b\u8102\u8910\u7d20\u6216 ceroid\uff09\u7684\u5f02\u5e38\u79ef\u7d2f\uff0c\u5bfc\u81f4\u795e\u7ecf\u529f\u80fd\u9010\u6e10\u53d7\u635f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0_Overview\"><\/span><strong><strong><strong>\u6982\u8ff0 | Overview<\/strong><\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3 \u75c5\u662f\u4e00\u79cd\u513f\u7ae5\u671f\u53d1\u75c5\u7684 <strong>\u8fdb\u884c\u6027\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5<\/strong>\uff0c\u7531\u57fa\u56e0\u5f02\u5e38\u5f15\u53d1\u3002\u5927\u591a\u6570\u60a3\u513f\u5728\u53d1\u75c5\u524d\u53d1\u80b2\u6b63\u5e38\uff0c\u901a\u5e38\u5728 <strong>4\u301c7\u5c81<\/strong> \u5de6\u53f3\u7a81\u7136\u51fa\u73b0 <strong>\u89c6\u529b\u5feb\u901f\u4e0b\u964d<\/strong>\uff0c\u968f\u540e\u9010\u6e10\u8868\u73b0\u51fa <strong>\u5b66\u4e60\u56f0\u96be\u3001\u8bed\u8a00\u9000\u5316\u3001\u766b\u75eb\u53d1\u4f5c\u3001\u8fd0\u52a8\u529f\u80fd\u51cf\u9000<\/strong> \u7b49\u75c7\u72b6\uff0c\u75c5\u60c5\u4f1a\u968f\u7740\u65f6\u95f4\u9010\u6e10\u8fdb\u5c55\u3002<\/p>\n\n\n\n<p>CLN3 \u75c5\u7684\u75c5\u7406\u7279\u5f81\u4e4b\u4e00\u662f\u6eb6\u9176\u4f53\u5185\u8102\u6027\u8272\u7d20\u7684\u6c89\u79ef\uff0c\u8fd9\u4e9b\u8272\u7d20\u5728\u7535\u5b50\u663e\u5fae\u955c\u4e0b\u53ef\u89c1\u7279\u6709\u7684\u201c\u6307\u7eb9\u6837\u5305\u6db5\u4f53\uff08fingerprint profile\uff09\u201d\u3002\u8fd9\u4e9b\u6c89\u79ef\u5c24\u5176\u663e\u8457\u5730\u53d1\u751f\u5728\u5927\u8111\u548c\u89c6\u7f51\u819c\u7ec6\u80de\u4e2d\u3002\u76ee\u524d\u5c1a\u65e0\u6839\u6cbb\u7597\u6cd5\uff0c\u4f46\u901a\u8fc7 <strong>\u5bf9\u75c7\u652f\u6301\u6cbb\u7597<\/strong> \u4ee5\u53ca <strong>\u591a\u5b66\u79d1\u56e2\u961f\u7684\u534f\u4f5c\u7ba1\u7406<\/strong>\uff0c\u53ef\u4ee5\u5e2e\u52a9\u7f13\u89e3\u75c7\u72b6\u5e76\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u3002\u540c\u65f6\uff0c\u5168\u7403\u8303\u56f4\u5185\u7684\u4e34\u5e8a\u8bd5\u9a8c\u6b63\u5728\u63a2\u7d22\u65b0\u7684\u6cbb\u7597\u7b56\u7565\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_Epidemiology\"><\/span><strong><strong>\u6d41\u884c\u75c5\u5b66 | Epidemiology<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3 \u75c5\u5c5e\u4e8e <strong>\u7f55\u89c1\u75be\u75c5<\/strong>\uff0c\u53d1\u75c5\u7387\u7ea6\u4e3a <strong>\u6bcf10\u4e07\u4eba\u4e2d\u67091\u301c4\u4eba<\/strong>\u3002\u5728\u5317\u6b27\uff08\u65af\u582a\u7684\u7eb3\u7ef4\u4e9a\u534a\u5c9b\uff09\u4eba\u7fa4\u4e2d\u66f4\u4e3a\u5e38\u89c1\u3002\u867d\u7136\u5168\u7403\u75c5\u4f8b\u6570\u6709\u9650\uff0c\u4f46\u5728\u6240\u6709 NCL \u7c7b\u578b\u4e2d\uff0c<strong>CLN3 \u75c5\u662f\u513f\u7ae5\u671f\u6700\u5e38\u89c1\u7684\u4e00\u79cd<\/strong>\u3002<br>\u5982\u679c\u7236\u6bcd\u5747\u4e3a CLN3 \u57fa\u56e0\u7a81\u53d8\u7684\u643a\u5e26\u8005\uff0c\u5b50\u5973\u60a3\u75c5\u7684\u6982\u7387\u4e3a <strong>25%\uff08\u6bcf\u56db\u4eba\u4e2d\u4e00\u4eba\uff09<\/strong>\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><strong>\u75c5\u56e0 | Etiology<\/strong><\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3 \u75c5\u901a\u8fc7 <strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08autosomal recessive inheritance\uff09<\/strong> \u65b9\u5f0f\u9057\u4f20\u3002\u8fd9\u610f\u5473\u7740\uff0c\u5b69\u5b50\u5fc5\u987b\u4ece\u7236\u6bcd\u53cc\u65b9\u5404\u9057\u4f20\u4e00\u4efd\u5f02\u5e38\u57fa\u56e0\uff0c\u624d\u4f1a\u53d1\u75c5\u3002<br>CLN3 \u57fa\u56e0\u6b63\u5e38\u65f6\uff0c\u6eb6\u9176\u4f53\u4f1a\u987a\u5229\u6e05\u7406\u7ec6\u80de\u5185\u7684\u5e9f\u7269\u3002\u7136\u800c\u5728\u57fa\u56e0\u5f02\u5e38\u60c5\u51b5\u4e0b\uff0c\u8fd9\u4e00\u529f\u80fd\u53d7\u963b\uff0c\u5bfc\u81f4 <strong>\u7c7b\u8102\u8910\u7d20\uff08lipofuscin\uff09\u548c ceroid<\/strong> \u7b49\u4ee3\u8c22\u5e9f\u7269\u9010\u6e10\u5806\u79ef\u5728\u795e\u7ecf\u7ec6\u80de\u4e2d\uff0c\u5f15\u8d77 <strong>\u795e\u7ecf\u7ec6\u80de\u529f\u80fd\u969c\u788d\u548c\u6b7b\u4ea1<\/strong>\uff0c\u6700\u7ec8\u5f71\u54cd\u89c6\u89c9\u3001\u8fd0\u52a8\u3001\u8ba4\u77e5\u3001\u60c5\u7eea\u7b49\u591a\u65b9\u9762\u529f\u80fd\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><strong>\u75c7\u72b6 | Symptoms<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u521d\u671f\u75c7\u72b6\uff084\u301c8\u5c81\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89c6\u529b\u4e0b\u964d<\/strong>\uff1a\u6700\u5e38\u89c1\u4e14\u6700\u65e9\u51fa\u73b0\u7684\u75c7\u72b6\uff0c\u7531\u89c6\u7f51\u819c\u53d8\u6027\u5f15\u8d77\u3002\u8bb8\u591a\u60a3\u513f\u5728 <strong>10\u5c81\u524d<\/strong> \u5931\u660e\uff08\u6cd5\u5f8b\u5b9a\u4e49\u4e0a\u7684\u5931\u660e\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u5b66\u4e60\u56f0\u96be \/ \u8bed\u8a00\u9000\u5316<\/strong>\uff1a\u8bb0\u5fc6\u529b\u548c\u5b66\u4e60\u65b0\u77e5\u8bc6\u7684\u80fd\u529b\u4e0b\u964d\uff0c\u5df2\u638c\u63e1\u7684\u8bcd\u6c47\u548c\u8bed\u8a00\u6280\u80fd\u4e5f\u4f1a\u9010\u6e10\u4e27\u5931\u3002<br><\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u788d<\/strong>\uff1a\u591c\u95f4\u9891\u7e41\u9192\u6765\u6216\u5931\u7720\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u4e2d\u540e\u671f\u75c7\u72b6\uff0810\u301c20\u5c81\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u766b\u75eb\u53d1\u4f5c<\/strong>\uff1a\u5e38\u89c1\u4e8e\u9752\u6625\u671f\u5f00\u59cb\u3002<br><\/li>\n\n\n\n<li><strong>\u8fd0\u52a8\u969c\u788d<\/strong>\uff1a\u808c\u5f20\u529b\u589e\u9ad8\u3001\u52a8\u4f5c\u8fdf\u7f13\u3001\u5e73\u8861\u611f\u4e0b\u964d\u3002<br><\/li>\n\n\n\n<li><strong>\u8bed\u8a00\u969c\u788d<\/strong>\uff1a\u8a00\u8bed\u542b\u7cca\u4e0d\u6e05\uff08\u6784\u97f3\u969c\u788d\uff09\u3001\u7ed3\u5df4\uff08\u795e\u7ecf\u6027\u53e3\u5403\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c7\u72b6<\/strong>\uff1a\u90e8\u5206\u60a3\u8005\u51fa\u73b0\u5e7b\u89c9\u3001\u5984\u60f3\u7b49\u7cbe\u795e\u95ee\u9898\u3002<br><\/li>\n\n\n\n<li><strong>\u5fc3\u5f8b\u5931\u5e38<\/strong>\uff1a\u6210\u4eba\u671f\u53ef\u51fa\u73b0\u5fc3\u5f8b\u4e0d\u9f50\u3002<br><\/li>\n\n\n\n<li><strong>\u541e\u54bd\u56f0\u96be<\/strong>\uff1a\u968f\u7740\u75be\u75c5\u8fdb\u5c55\uff0c\u53ef\u80fd\u9700\u8981\u80c3\u7ba1\u6216\u5176\u4ed6\u8425\u517b\u652f\u6301\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%B5%8B%E4%B8%8E%E8%AF%8A%E6%96%AD_Testing_Diagnosis\"><\/span><strong><strong><strong>\u68c0\u6d4b\u4e0e\u8bca\u65ad | Testing &amp; Diagnosis<\/strong><\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3 \u75c5\u7684\u65e9\u671f\u53d1\u73b0\u81f3\u5173\u91cd\u8981\uff0c\u5e38\u89c1\u68c0\u6d4b\u65b9\u6cd5\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u5468\u8840\u6d82\u7247\u68c0\u67e5<\/strong>\uff1a\u663e\u5fae\u955c\u4e0b\u53ef\u89c1 <strong>\u7a7a\u6ce1\u5316\u6dcb\u5df4\u7ec6\u80de\uff08vacuolated lymphocytes\uff09<\/strong>\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u7f51\u819c\u7535\u56fe\uff08ERG\uff09<\/strong>\uff1a\u8868\u73b0\u51fa\u7279\u5f81\u6027\u7684\u8d1fERG\u6ce2\u5f62\uff08b\u6ce2\u4f4e\u4e8ea\u6ce2\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u5149\u5b66\u76f8\u5e72\u65ad\u5c42\u626b\u63cf\uff08OCT\uff09<\/strong>\uff1a\u663e\u793a\u89c6\u7f51\u819c\u4e2d\u5fc3\u5c42\u7ed3\u6784\u7834\u574f\u6216\u53d8\u8584\u3002<br><\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong>\uff1a\u68c0\u6d4b CLN3 \u57fa\u56e0\u7684 <strong>1.02 kb \u7f3a\u5931<\/strong> \u6216\u5176\u4ed6\u7a81\u53d8\uff0c\u53ef\u786e\u8bca\u3002<br><\/li>\n\n\n\n<li><strong>\u7535\u5b50\u663e\u5fae\u955c\u68c0\u67e5<\/strong>\uff1a\u5728\u6c57\u817a\u6216\u7ed3\u819c\u7ec4\u7ec7\u4e2d\u53d1\u73b0\u6307\u7eb9\u72b6\u5305\u6db5\u4f53\u3002<br><\/li>\n\n\n\n<li><strong>\u8111\u7535\u56fe\uff08EEG\uff09\u4e0eMRI<\/strong>\uff1a\u8bc4\u4f30\u766b\u75eb\u548c\u8111\u840e\u7f29\u60c5\u51b5\u3002<br><\/li>\n\n\n\n<li><strong>\u529f\u80fd\u8bc4\u4f30\u91cf\u8868<\/strong>\uff1a\u5982 Vineland-3\u3001UBDRS\uff0c\u7528\u4e8e\u76d1\u6d4b\u75be\u75c5\u8fdb\u5c55\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span><strong><strong><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406 | Treatment &amp; Management<\/strong><\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u83b7\u6279\u7684\u6839\u6cbb\u7597\u6cd5\uff0c\u4f46\u591a\u5b66\u79d1\u652f\u6301\u62a4\u7406\u662f\u5173\u952e\u3002<\/p>\n\n\n\n<p><strong>\u5bf9\u75c7\u6cbb\u7597<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u766b\u75eb<\/strong>\uff1a\u5982\u5de6\u4e59\u62c9\u897f\u5766\uff08Levetiracetam\uff09\u3001\u4e19\u620a\u9178\uff08Valproic Acid\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u8fd0\u52a8\u969c\u788d<\/strong>\uff1a\u5982\u5df4\u514b\u6d1b\u82ac\uff08Baclofen\uff09\u3001\u8089\u6bd2\u6bd2\u7d20\u6ce8\u5c04\uff0c\u7ed3\u5408\u7269\u7406\u6cbb\u7597\u3002<br><\/li>\n\n\n\n<li><strong>\u8bed\u8a00\u652f\u6301<\/strong>\uff1a\u8bed\u8a00\u6cbb\u7597\u53ca <strong>AAC\uff08\u8f85\u52a9\u4e0e\u66ff\u4ee3\u6c9f\u901a\uff09<\/strong> \u5de5\u5177\u3002<br><\/li>\n\n\n\n<li><strong>\u8425\u517b\u652f\u6301<\/strong>\uff1a\u5bf9\u4e8e\u541e\u54bd\u56f0\u96be\u8005\uff0c\u9002\u65f6\u8003\u8651\u7ba1\u9972\u3002<br><\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u5fc3\u7406\u652f\u6301<\/strong>\uff1a\u9488\u5bf9\u7126\u8651\u3001\u6291\u90c1\u6216\u5f3a\u8feb\u75c7\u72b6\u8fdb\u884c\u5e72\u9884\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u591a\u5b66\u79d1\u56e2\u961f\u7ba1\u7406<\/strong><strong><br><\/strong> \u5c0f\u513f\u795e\u7ecf\u79d1\u3001\u773c\u79d1\u3001\u5eb7\u590d\u79d1\u3001\u9057\u4f20\u54a8\u8be2\u5e08\u3001\u5fc3\u7406\u5e08\u3001\u7f13\u548c\u533b\u7597\u56e2\u961f\u7684\u5408\u4f5c\u5bf9\u4e8e\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<p><strong>\u524d\u6cbf\u7814\u7a76<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\u6cbb\u7597<\/strong>\uff1a\u5229\u7528\u75c5\u6bd2\u8f7d\u4f53\u8865\u5145 CLN3 \u57fa\u56e0\uff08\u4e34\u5e8a\u8bd5\u9a8c\u8fdb\u884c\u4e2d\uff09\u3002<br><\/li>\n\n\n\n<li><strong>\u5206\u5b50\u9776\u5411\u53ca\u53cd\u4e49\u6838\u9178\u7597\u6cd5<\/strong>\uff1a\u4ecd\u5728\u7814\u7a76\u9636\u6bb5\u3002<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E_Prognosis\"><\/span><strong><strong><strong>\u9884\u540e | Prognosis<\/strong><\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN3 \u75c5\u4e3a\u7f13\u6162\u8fdb\u5c55\u7684\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\uff0c\u5e38\u89c1\u75c5\u7a0b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>10\u5c81\u524d\u540e<\/strong> \u5b8c\u5168\u5931\u660e<br><\/li>\n\n\n\n<li><strong>\u9752\u5c11\u5e74\u665a\u671f\u5230\u4e8c\u5341\u5c81\u51fa\u5934<\/strong> \u51fa\u73b0\u4e25\u91cd\u8fd0\u52a8\u969c\u788d\uff0c\u9700\u8981\u8f6e\u6905<br><\/li>\n\n\n\n<li><strong>20\u301c30\u5c81<\/strong> \u591a\u6570\u60a3\u8005\u65e9\u901d\uff08\u5e73\u5747\u5bff\u547d20\u301c30\u5c81\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u4e5f\u6709\u5c11\u89c1\u7684 <strong>\u8f7b\u75c7\u578b<\/strong>\uff0c\u4ec5\u8868\u73b0\u4e3a\u89c6\u529b\u969c\u788d\uff0c\u4e14\u795e\u7ecf\u75c7\u72b6\u8f7b\u5fae\u6216\u65e0\u660e\u663e\u8fdb\u5c55\uff0c\u90e8\u5206\u60a3\u8005\u53ef\u751f\u5b58\u81f330\u5c81\u751a\u81f3\u66f4\u957f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%93%E4%B8%9A%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A%EF%BD%9CHelpful_Terms\"><\/span><strong><strong>\u4e13\u4e1a\u672f\u8bed\u89e3\u91ca<\/strong>\uff5cHelpful Terms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\uff08Gene\uff09<\/strong>\uff1a\u4eba\u4f53\u7684\u201c\u8bbe\u8ba1\u56fe\u201d\uff0c\u4e00\u534a\u6765\u81ea\u7236\u4eb2\uff0c\u4e00\u534a\u6765\u81ea\u6bcd\u4eb2\u3002<br><\/li>\n\n\n\n<li><strong>CLN3\u57fa\u56e0<\/strong>\uff1a\u63a7\u5236\u6eb6\u9176\u4f53\u529f\u80fd\u7684\u91cd\u8981\u57fa\u56e0\uff0c\u5f02\u5e38\u4f1a\u5bfc\u81f4\u7ec6\u80de\u5e9f\u7269\u5806\u79ef\uff0c\u9010\u6e10\u635f\u4f24\u8111\u548c\u773c\u3002<br><\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20<\/strong>\uff1a\u9700\u8981\u4ece\u7236\u6bcd\u53cc\u65b9\u5404\u9057\u4f20\u4e00\u4efd\u5f02\u5e38\u57fa\u56e0\u624d\u4f1a\u53d1\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>\u6eb6\u9176\u4f53<\/strong>\uff1a\u7ec6\u80de\u7684\u201c\u5783\u573e\u5904\u7406\u7ad9\u201d\u3002<br><\/li>\n\n\n\n<li><strong>\u7c7b\u8102\u8910\u7d20\uff08Ceroid Lipofuscin\uff09<\/strong>\uff1a\u7ec6\u80de\u4ee3\u8c22\u5e9f\u7269\uff0c\u5806\u79ef\u4f1a\u635f\u5bb3\u795e\u7ecf\u7ec6\u80de\u529f\u80fd\u3002<br><\/li>\n\n\n\n<li><strong>NCL\uff08\u795e\u7ecf\u7c7b\u8102\u8910\u7d20\u6c89\u79ef\u75c7\uff09<\/strong>\uff1a\u4e00\u7ec4\u4f1a\u5bfc\u81f4\u795e\u7ecf\u529f\u80fd\u9010\u6e10\u9000\u5316\u7684\u7f55\u89c1\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>Juvenile\uff08\u82e5\u5e74\u578b\uff09<\/strong>\uff1a\u513f\u7ae5\u671f\uff084\u301c8\u5c81\uff09\u53d1\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>Batten Disease\uff08\u5df4\u6ed5\u75c5\uff09<\/strong>\uff1a\u6307 NCL \u75be\u75c5\u7fa4\u7684\u901a\u4fd7\u79f0\u8c13\uff0c\u5e38\u7528\u4e8e CLN3 \u75c5\u7b49\u60c5\u51b5\u3002<br><\/li>\n\n\n\n<li><strong>1.02 kb \u7f3a\u5931<\/strong>\uff1aCLN3\u57fa\u56e0\u5e38\u89c1\u7a81\u53d8\u7c7b\u578b\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u529b\u4e0b\u964d\u3001\u766b\u75eb\u3001\u53d1\u80b2\u9000\u884c<\/strong>\uff1a\u5747\u4e3a CLN3 \u75c5\u7684\u4e3b\u8981\u75c7\u72b6\u3002<br><\/li>\n\n\n\n<li><strong>AAC\uff08\u8f85\u52a9\u4e0e\u66ff\u4ee3\u6c9f\u901a\uff09<\/strong>\uff1a\u5e2e\u52a9\u8bed\u8a00\u969c\u788d\u60a3\u8005\u8868\u8fbe\u9700\u6c42\u7684\u6c9f\u901a\u65b9\u6cd5\u3002<br><\/li>\n\n\n\n<li><strong>\u591a\u5b66\u79d1\u8054\u5408\u62a4\u7406<\/strong>\uff1a\u591a\u4e13\u4e1a\u5408\u4f5c\uff0c\u652f\u6301\u60a3\u8005\u751f\u6d3b\u8d28\u91cf\u3002<br><\/li>\n\n\n\n<li><strong>\u7f13\u548c\u533b\u7597\uff08Palliative Care\uff09<\/strong>\uff1a\u5728\u75be\u75c5\u4e0d\u53ef\u6cbb\u6108\u65f6\uff0c\u5e2e\u52a9\u7f13\u89e3\u75db\u82e6\u5e76\u63d0\u5347\u751f\u6d3b\u8d28\u91cf\u7684\u652f\u6301\u3002<br><\/li>\n\n\n\n<li><strong>\u9057\u4f20\u54a8\u8be2\uff08Genetic Counseling\uff09<\/strong>\uff1a\u5e2e\u52a9\u7406\u89e3\u9057\u4f20\u673a\u5236\u4e0e\u68c0\u6d4b\u7ed3\u679c\uff0c\u5e76\u63d0\u4f9b\u5bb6\u65cf\u8ba1\u5212\u5efa\u8bae\u3002<\/li>\n<\/ul>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  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