{"id":63422,"date":"2022-01-04T11:06:26","date_gmt":"2022-01-04T16:06:26","guid":{"rendered":"https:\/\/www.erdheim-chester.org\/ecd-%e5%85%a8%e7%90%83%e8%81%af%e7%9b%9f-2021-%e7%a0%94%e7%a9%b6%e8%b3%87%e5%8a%a9%e9%87%91%e5%85%ac%e5%91%8a\/"},"modified":"2025-08-23T17:22:49","modified_gmt":"2025-08-23T21:22:49","slug":"ecd-%e5%85%a8%e7%90%83%e8%81%af%e7%9b%9f-2021-%e7%a0%94%e7%a9%b6%e8%b3%87%e5%8a%a9%e9%87%91%e5%85%ac%e5%91%8a","status":"publish","type":"post","link":"https:\/\/www.erdheim-chester.org\/zh-hant\/ecd-%e5%85%a8%e7%90%83%e8%81%af%e7%9b%9f-2021-%e7%a0%94%e7%a9%b6%e8%b3%87%e5%8a%a9%e9%87%91%e5%85%ac%e5%91%8a\/","title":{"rendered":"ECD \u5168\u7403\u806f\u76df 2021 \u7814\u7a76\u8cc7\u52a9\u91d1\u516c\u544a"},"content":{"rendered":"<h2><em>Erdheim-Chester \u75c5\u5168\u7403\u806f\u76df\u5411\u7fa9\u5927\u5229\u91ab\u751f\u9812\u767c\u9752\u5e74\u7814\u7a76\u8005\u7814\u7a76\u8cc7\u52a9\uff0c\u4ee5\u63a2\u7d22 ECD \u7684\u907a\u50b3\u666f\u89c0\u3002<\/em><\/h2>\n<p>ECD\u806f\u76df \uff08ECDGA \u5df2\u5411\u7fa9\u5927\u5229\u4f5b\u7f85\u502b\u85a9\u9081\u8036\u5927\u5b78\u5152\u7ae5\u91ab\u9662\u7684Francesco Pegoraro\u535a\u58eb\u9812\u767c\u4e862021\u5e74ECD\u7814\u7a76\u8cc7\u52a9\u3002&nbsp; \u7372\u52dd\u63d0\u6848 <em>Exploring the genetic landscape <\/em> of Erdheim-Chester disease by integrating GWAS and -omic data\uff0c\u88ab\u9078\u4e2d\u7372\u5f97 50,000 \u7f8e\u5143\u7684\u8cc7\u52a9\u3002ECDGA \u5f88\u69ae\u5e78\u80fd\u5920\u8cc7\u52a9\u9019\u9805\u958b\u5275\u6027\u7684\u5de5\u4f5c\uff0c\u4e26\u76f8\u4fe1\u9019\u5c07\u70ba ECD \u60a3\u8005\u5e36\u4f86\u66f4\u5149\u660e\u7684\u672a\u4f86\uff0c\u4e26\u66f4\u597d\u5730\u4e86\u89e3\u7d44\u7e54\u7d30\u80de\u589e\u591a\u75c7\u3002 <\/p>\n<div id=\"attachment_19966\" style=\"width: 226px\" class=\"wp-caption alignright\"><a href=\"https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2021\/11\/pegoraro-picture-.jpg\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-19966\" class=\" wp-image-19966\" src=\"https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2021\/11\/pegoraro-picture--300x300.jpg\" alt=\"\" width=\"216\" height=\"216\" srcset=\"https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2021\/11\/pegoraro-picture--300x300.jpg 300w, https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2021\/11\/pegoraro-picture--150x150.jpg 150w, https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2021\/11\/pegoraro-picture-.jpg 600w\" sizes=\"(max-width: 216px) 100vw, 216px\" \/><\/a><p id=\"caption-attachment-19966\" class=\"wp-caption-text\">Francesco Pegoraro \u535a\u58eb<\/p><\/div>\n<p><strong>Pegoraro \u535a\u58eb<\/strong>\u7684\u7814\u7a76<strong>\u65e8\u5728\u95e1\u660e ECD \u7684\u907a\u50b3\u6613\u611f\u6027\u3002<\/strong> \u767c\u73feECD\u6613\u611f\u6027\u7684\u907a\u50b3\u6a21\u5f0f\u548c\u65b0\u75c5\u7406\u6a5f\u5236\u7684\u53ef\u80fd\u5b9a\u7fa9<strong>\u53ef\u80fd\u6709\u52a9\u65bc\u78ba\u5b9a\u6f5b\u5728\u7684\u9776\u5411\u9014\u5f91\u4e26\u5f15\u5165\u65b0\u7684\u6cbb\u7642\u65b9\u6cd5<\/strong>\u3002\u8a72\u7814\u7a76\u5305\u62ec\u4e00\u500b\u81e8\u5e8a\u91ab\u751f\u7db2\u8def\uff0c\u4ed6\u5011\u5c0dECD\u767c\u75c5\u6a5f\u5236\u548c\u9776\u5411\u65b9\u6cd5\u7684\u5f15\u5165\u505a\u51fa\u4e86\u91cd\u5927\u8ca2\u737b\u3002\u5982\u679c\u767c\u73fe\u907a\u50b3\u6613\u611f\u6027\uff0c\u76f8\u95dc\u81e8\u5e8a\u91ab\u751f\u5c07\u5728\u81e8\u5e8a\u524d\u548c\u81e8\u5e8a\u6c34\u5e73\u4e0a\u9032\u4e00\u6b65\u9a57\u8b49\u907a\u50b3\u7814\u7a76\u78ba\u5b9a\u7684\u9014\u5f91\u6216\u751f\u7269\u5b78\u6a5f\u5236\u3002\u5728\u9019\u7a2e\u60c5\u6cc1\u4e0b\uff0c\u81e8\u5e8a\u91ab\u751f\u9084\u5c07\u901a\u904e\u570b\u969b\u8cc7\u6599\u5eab\u9a57\u8b49\u662f\u5426\u6709\u85e5\u7269\u53ef\u80fd\u9776\u5411\u5df2\u78ba\u5b9a\u7684\u9014\u5f91\u4e26\u9032\u884c\u81e8\u5e8a\u7814\u7a76\u3002   <\/p>\n<p>Pegoraro \u535a\u58eb\u7684\u6982\u8981\uff1a\u300c\u8207\u5c0d\u7167\u7d44\u76f8\u6bd4\uff0c\u6211\u5011\u5e0c\u671b\u5728 ECD \u60a3\u8005\u4e2d\u9452\u5b9a\u51fa\u4e0d\u540c\u7684\u7532\u57fa\u5316\u548c\/\u6216\u8868\u9054\u57fa\u56e0\u3002\u60a3\u8005\u7684\u81e8\u5e8a\u6578\u64da\u5c07\u5f9e\u75c5\u6b77\u4e2d\u6536\u96c6\u4e26\u8207\u907a\u50b3\u7d50\u679c\u76f8\u5339\u914d\u3002\u6211\u5011\u671f\u671b\u78ba\u5b9a\u53d7\u5f71\u97ff\u60a3\u8005\u7684\u907a\u50b3\u8b8a\u7570\u6216\u8868\u89c0\u907a\u50b3\u8b5c\u8207 ECD \u7279\u7570\u6027\u81e8\u5e8a\u8868\u73fe\u6216\u9ad4\u7d30\u80de\u7a81\u8b8a\u4e4b\u9593\u662f\u5426\u5b58\u5728\u95dc\u806f\u3002\u6211\u5011\u5c07 GWAS \u6578\u64da\u8207\u7532\u57fa\u5316\u548c\u8f49\u9304\u7d44\u6578\u64da\u76f8\u7d50\u5408\uff0c\u4ee5\u9452\u5b9a\u5f71\u97ff\u7532\u57fa\u5316\u548c\/\u6216\u57fa\u56e0\u8868\u9054\u7684\u591a\u614b\u6027\u3002\u7522\u51fa\u9084\u53ef\u80fd\u5305\u62ec\u5c0d\u76f8\u95dc\u751f\u7269\u9014\u5f91\u7684\u63cf\u8ff0\u4ee5\u53ca\u6f5b\u5728\u6cbb\u7642\u9776\u9ede\u548c\u75be\u75c5\u751f\u7269\u6a19\u8a8c\u7269\u7684\u8b58\u5225\u3002<\/p>\n<p>\u8cc7\u52a9\u5be9\u67e5\u5718\u968a\u76f8\u4fe1Pegoraro\u535a\u58eb\u7684\u7814\u7a76\u6709\u50f9\u503c\uff0c\u4e26\u8a8d\u53ef\u4ed6\u7684\u591a\u6a5f\u69cb\u5718\u968a\u9032\u884c\u9019\u9805\u7814\u7a76\u7684\u5c08\u696d\u77e5\u8b58\u3002\u300c\u8a72\u7814\u7a76\u8005\u662f\u4e00\u540d\u535a\u58eb\u5f8c\u7814\u7a76\u54e1\uff0c\u4e26\u4f5c\u70ba\u5408\u8457\u8005\u767c\u8868\u4e86\u8207\u6717\u683c\u6f22\u65af\u7d30\u80de\u7d44\u7e54\u7d30\u80de\u589e\u591a\u75c7 \uff08LCH\uff09 \u76f8\u95dc\u7684\u6587\u7ae0\uff0c\u9019\u662f\u4e00\u7a2e\u8207 ECD \u76f8\u95dc\u7684\u75be\u75c5\u3002\u300d <\/p>\n<p>\u7814\u7a76\u662fECDGA\u7684\u95dc\u9375\u4efb\u52d9\u76ee\u6a19\u3002\u8a72\u7d44\u7e54\u6b64\u524d\u5df2\u6388\u4e88\u5341 \uff0810\uff09 \u9805\u91ab\u5b78\u7814\u7a76\u8cc7\u52a9\uff0c\u5c07\u8d85\u904e $800K \u7528\u65bc\u91ab\u5b78\u7814\u7a76\u3002\u8d08\u6b3e\u8cc7\u91d1\u4f86\u81ea\u6177\u6168\u7684\u79c1\u4eba\u6350\u6b3e\u3002ECD \u7814\u7a76\u5de5\u4f5c\u5728\u90e8\u5206\u7531\u8a72\u975e\u71df\u5229\u7d44\u7e54\u652f\u6301\u7684\u60c5\u6cc1\u4e0b\uff0c\u6700\u8fd1\u5c0e\u81f4 FDA \u6279\u51c6\u4e86\u4e00\u7a2e\u540d\u70ba vemurafenib \u7684\u85e5\u7269\uff0c\u8a72\u85e5\u7269\u6700\u521d\u958b\u767c\u7528\u65bc\u6cbb\u7642\u5176\u4ed6\u985e\u578b\u7684\u764c\u75c7\uff0c\u4f8b\u5982\u9ed1\u8272\u7d20\u7624\u76ae\u819a\u764c\uff0c\u4ee5\u6cbb\u7642\u5177\u6709 <em>BRAF<\/em>V600E \u7a81\u8b8a\u7684 ECD \u60a3\u8005\u3002   <\/p>\n<p>Erdheim-Chester \u9152\u5e97\uff09\u9019\u7a2e\u75be\u75c5\u88ab\u8a8d\u70ba\u662f\u7d44\u7e54\u7d30\u80de\u816b\u7624\uff08\u8840\u764c\u985e\u578b\uff09\uff0c\u662f\u4e00\u7a2e\u539f\u56e0\u4e0d\u660e\u7684\u6975\u5176\u7f55\u898b\u7684\u75be\u75c5\uff0c\u88ab\u8a8d\u70ba\u8a3a\u65b7\u4e0d\u8db3\u3002\u9019\u7a2e\u75be\u75c5\u7684\u7279\u9ede\u662f\u7d44\u7e54\u7d30\u80de\uff08\u901a\u5e38\u62b5\u6297\u611f\u67d3\u7684\u7d30\u80de\uff09\u5728\u7d44\u7e54\u548c\u5668\u5b98\u4e2d\u7a4d\u7d2f\u3002\u7531\u65bc\u7d44\u7e54\u7d30\u80de\u7684\u6d78\u6f64\uff0c\u7d44\u7e54\u548c\u5668\u5b98\u8b8a\u5f97\u7dfb\u5bc6\u548c\u7e96\u7dad\u5316\uff0c\u9664\u975e\u627e\u5230\u6210\u529f\u7684\u6cbb\u7642\u65b9\u6cd5\uff0c\u5426\u5247\u53ef\u80fd\u5c0e\u81f4\u5668\u5b98\u8870\u7aed\u3002  <\/p>\n<p><a href=\"https:\/\/www.erdheim-chester.org\/zh-hant\/%e4%bb%bb%e5%8b%99\/\">ECD\u806f\u76df<\/a>\u662f\u4e00\u500b 501\uff08c\uff09\uff083\uff09 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[&hellip;]<\/p>\n","protected":false},"author":14,"featured_media":63428,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","_wds_title":"","_wds_metadesc":"","_wds_focus-keywords":"","_wds_meta-robots-adv":"","_wds_meta-robots-noindex":false,"_wds_meta-robots-nofollow":false,"_wds_meta-robots-index":false,"_wds_meta-robots-follow":false,"_wds_autolinks-exclude":false,"_wds_canonical":"","_wds_redirect":"","_wds_opengraph":[],"_wds_twitter":[],"cybocfi_hide_featured_image":"","wds_primary_category":0,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[422,891],"tags":[1531,1680,959,961,967,958,960,954,1498,965,966,1679,962],"class_list":["post-63422","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ecdga-","category-891","tag-histio-zh-hant","tag-pegoraro-","tag-959","tag-961","tag-967","tag-958","tag-960","tag-954","tag--zh-hant","tag-965","tag-966","tag-1679","tag-962"],"_links":{"self":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts\/63422","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/users\/14"}],"replies":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/comments?post=63422"}],"version-history":[{"count":0,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts\/63422\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/media\/63428"}],"wp:attachment":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/media?parent=63422"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/categories?post=63422"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/tags?post=63422"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}