{"id":8734,"date":"2026-09-28T17:42:35","date_gmt":"2026-09-28T17:42:35","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=8734"},"modified":"2026-09-28T17:45:35","modified_gmt":"2026-09-28T17:45:35","slug":"raquitismo-y-salud-osea-en-errores-del-metabolismo-y-enfermedades-geneticas","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/zh\/raquitismo-y-salud-osea-en-errores-del-metabolismo-y-enfermedades-geneticas\/","title":{"rendered":"\u4ee3\u8c22\u9519\u8bef\u548c\u9057\u4f20\u75be\u75c5\u4e2d\u7684\u4f5d\u507b\u75c5\u548c\u9aa8\u9abc\u5065\u5eb7\u3002"},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"457\" height=\"322\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8.png\" alt=\"\" class=\"wp-image-8738\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8.png 457w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8-17x12.png 17w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8-300x211.png 300w\" sizes=\"(max-width: 457px) 100vw, 457px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"680\" height=\"817\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7.png\" alt=\"\" class=\"wp-image-8736\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7.png 680w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7-10x12.png 10w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7-250x300.png 250w\" sizes=\"(max-width: 680px) 100vw, 680px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f5d\u507b\u75c5\u4e0e\u5148\u5929\u6027\u4ee3\u8c22\u7f3a\u9677\u548c\u9057\u4f20\u6027\u75be\u75c5\u7684\u9274\u522b\u8bca\u65ad\u9700\u8981\u8bc4\u4f30\u5173\u952e\u7684\u751f\u5316\u6807\u5fd7\u7269\uff0c\u5c24\u5176\u662f <strong>\u8840\u6e05\u78b1\u6027\u78f7\u9178\u9176\uff08ALP\uff09<\/strong>\uff0c \u4ed6 <strong>\u78f7\u9178\u76d0<\/strong> \u548c <strong>\u9499<\/strong>\uff0c\u56e0\u4e3a\u8bb8\u591a\u7f55\u89c1\u75be\u75c5\u4e0e\u5e38\u89c1\u8425\u517b\u6027\u4f5d\u507b\u75c5\u7684\u4e34\u5e8a\u548c\u653e\u5c04\u5b66\u8868\u73b0\u76f8\u4f3c\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5173\u952e\u9274\u522b\u8bca\u65ad<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u78f7\u9178\u916f\u9176\u75c7\uff08HPP\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u76d6\u4f0a\uff1a<\/em> \u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\u5148\u5929\u6027\u4ee3\u8c22\u7f3a\u9677 <em>ALPL<\/em> \uff08\u7ec4\u7ec7\u975e\u7279\u5f02\u6027\u78b1\u6027\u78f7\u9178\u9176\u7f3a\u4e4f\u75c7\uff09\u3002<\/li>\n\n\n\n<li><em>\u7279\u8272\u6807\u5fd7\uff1a<\/em> <strong>\u8840\u6e05 FA \u6c34\u5e73\u5f02\u5e38\u4f4e<\/strong> \uff08\u800c\u666e\u901a\u4f5d\u507b\u75c5\u4f1a\u663e\u7740\u5347\u9ad8\uff09\uff0c\u5e76\u4f34\u6709\u78f7\u9178\u4e59\u9187\u80fa\u5347\u9ad8\u3001\u766b\u75eb\u53d1\u4f5c\u548c\u4e25\u91cd\u9aa8\u77ff\u5316\u4e0d\u8db3\u7684\u98ce\u9669\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9057\u4f20\u6027\u4f4e\u78f7\u6027\u4f5d\u507b\u75c5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u76d6\u4f0a\uff1a<\/em> \u80be\u78f7\u9178\u76d0\u6d88\u8017\u7684\u9057\u4f20\u6027\u75be\u75c5\uff08\u4f8b\u5982\uff0c\u7531\u4e8e\u57fa\u56e0\u7a81\u53d8\u800c\u4e0e X \u67d3\u8272\u4f53\u76f8\u5173\uff09 <em>\u83f2\u514b\u65af<\/em>\uff0c\u6216\u4e0e\u4ee5\u4e0b\u76f8\u5173\u7684\u5e38\u67d3\u8272\u4f53\u5f62\u5f0f <em>FGF23<\/em> o <em>DMP1<\/em>).<\/li>\n\n\n\n<li><em>\u7279\u8272\u6807\u5fd7\uff1a<\/em> <strong>\u4f4e\u78f7\u8840\u75c7<\/strong> \u4e25\u91cd\u4f34\u6709 1,25-\u4e8c\u7f9f\u57fa\u7ef4\u751f\u7d20 D \u6c34\u5e73\u4f4e\u6216\u6b63\u5e38\u4f4e\u6c34\u5e73\u4ee5\u53ca ALP \u5347\u9ad8\uff0c\u4f46\u4f34\u6709 <strong>25-\u7f9f\u57fa\u7ef4\u751f\u7d20 D \u6b63\u5e38\u6c34\u5e73<\/strong>.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7ef4\u751f\u7d20 D \u4f9d\u8d56\u6027\u4f5d\u507b\u75c5 (VDDR)\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>1A\/1B \u578b\uff1a<\/em> \u7ef4\u751f\u7d20 D \u5408\u6210\u6216\u751f\u7269\u6d3b\u6027\u7684\u9057\u4f20\u7f3a\u9677\uff08\u9176\u8870\u7aed\uff0c\u4f8b\u5982\u80be 1\u03b1-\u7f9f\u5316\u9176\u7f3a\u4e4f\uff09\u3002<\/li>\n\n\n\n<li><em>2A\/2B \u578b\uff1a<\/em> \u7ef4\u751f\u7d20 D \u53d7\u4f53 (VDR) \u7a81\u53d8\u3002<\/li>\n\n\n\n<li><em>\u7279\u8272\u6807\u5fd7\uff1a<\/em> 2 \u578b\u8868\u73b0\u51fa\u6781\u9ad8\u6c34\u5e73\u7684\u5faa\u73af 1,25(OH)2D\uff0c\u5e76\u4e14\u7ecf\u5e38\u4e0e <strong>\u5168\u8131\u53d1<\/strong>\uff0c\u8fd9\u5c06\u5176\u4e0e\u7ecf\u5178\u4f5d\u507b\u75c5\u548c 1 \u578b\u533a\u522b\u5f00\u6765\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8303\u79d1\u5c3c\u7efc\u5408\u5f81\uff08\u80be\u5c0f\u7ba1\u9178\u4e2d\u6bd2\/\u8fd1\u7aef\u80be\u5c0f\u7ba1\u75c5\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u76d6\u4f0a\uff1a<\/em> \u8fd1\u66f2\u5c0f\u7ba1\u7684\u666e\u904d\u529f\u80fd\u969c\u788d\uff0c\u53ef\u4ee5\u662f\u9057\u4f20\u6027\u7684\uff08\u7ee7\u53d1\u4e8e\u80f1\u6c28\u9178\u4e2d\u6bd2\u3001\u5a01\u5c14\u900a\u6c0f\u75c5\u7b49\uff09\u6216\u83b7\u5f97\u6027\u7684\u3002<\/li>\n\n\n\n<li><em>\u7279\u8272\u6807\u5fd7\uff1a<\/em> \u78f7\u9178\u76d0\u3001\u8461\u8404\u7cd6\u3001\u6c28\u57fa\u9178\u548c\u78b3\u9178\u6c22\u76d0\u5927\u91cf\u4ece\u5c3f\u4e2d\u6d41\u5931\uff0c\u5bfc\u81f4\u5168\u8eab\u6027\u9178\u4e2d\u6bd2\u548c\u4f4e\u78f7\u8840\u75c7\u6027\u9aa8\u8131\u77ff\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u53d1\u80b2\u4e0d\u826f\u548c\u50a8\u5b58\u6027\u75be\u75c5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u8a79\u68ee\u5e72\u9aba\u7aef\u53d1\u80b2\u4e0d\u826f\uff1a<\/em> \u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5\uff0c\u7c7b\u4f3c\u4e8e\u4f5d\u507b\u75c5\u7684\u5e72\u9aba\u7aef\u6539\u53d8\u3002<\/li>\n\n\n\n<li><em>\u7c98\u591a\u7cd6\u8d2e\u79ef\u75c7\uff1a<\/em> \u4ed6\u4eec\u53ef\u80fd\u4f1a\u51fa\u73b0\u9aa8\u9abc\u7578\u5f62\uff0c\u5728\u65e9\u671f\u9636\u6bb5\u4f1a\u4e0e\u4f5d\u507b\u75c5\u6df7\u6dc6\u3002<\/li>\n\n\n\n<li><em>\u6210\u9aa8\u4e0d\u5168\uff1a<\/em> \u80f6\u539f\u86cb\u767d\u7f3a\u9677\u4f1a\u5bfc\u81f4\u9891\u7e41\u9aa8\u6298\u548c\u9aa8\u9abc\u8106\u5f31\uff0c\u6709\u65f6\u4f1a\u5bfc\u81f4\u4e25\u91cd\u7684\u4f5d\u507b\u75c5\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u57fa\u672c\u8bca\u65ad\u7b5b\u67e5\u7b56\u7565<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u51b3\u5b9a <strong>\u8840\u6db2\u4e2d\u7684\u9499\u3001\u78f7\u3001\u9541\u548cFA<\/strong>.<\/li>\n\n\n\n<li>\u63aa\u65bd <strong>25-\u7f9f\u57fa\u7ef4\u751f\u7d20D<\/strong> y <strong>1,25-\u4e8c\u7f9f\u57fa\u7ef4\u751f\u7d20D<\/strong>.<\/li>\n\n\n\n<li>\u8bc4\u4f30 <strong>\u80be\u5c0f\u7ba1\u529f\u80fd<\/strong> \uff08\u5c3f\u78f7\u9178\u76d0\u3001\u6c28\u57fa\u9178\u3001\u8461\u8404\u7cd6\u548c\u8840\u6db2\/\u5c3f\u6db2 pH \u503c\uff09\u4ee5\u6392\u9664\u8303\u79d1\u5c3c\u7efc\u5408\u5f81\u6216\u5b64\u7acb\u7684\u78f7\u9178\u76d0\u4e22\u5931\u3002<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"<p>\u4f5d\u507b\u75c5\u4e0e\u5148\u5929\u6027\u4ee3\u8c22\u7f3a\u9677\u548c\u9057\u4f20\u6027\u75be\u75c5\u7684\u9274\u522b\u8bca\u65ad\u9700\u8981\u8bc4\u4f30\u5173\u952e\u7684\u751f\u5316\u6807\u5fd7\u7269\uff0c\u5c24\u5176\u662f\u8840\u6e05\u78b1\u6027\u78f7\u9178\u9176 (ALP)\u3001\u78f7\u9178\u76d0\u548c\u9499\uff0c\u56e0\u4e3a\u8bb8\u591a\u7f55\u89c1\u75be\u75c5\u4e0e\u5e38\u89c1\u8425\u517b\u6027\u4f5d\u507b\u75c5\u7684\u4e34\u5e8a\u548c\u653e\u5c04\u5b66\u8868\u73b0\u76f8\u4f3c\u3002\u5173\u952e\u9274\u522b\u8bca\u65ad 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