{"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\/ja\/raquitismo-y-salud-osea-en-errores-del-metabolismo-y-enfermedades-geneticas\/","title":{"rendered":"\u4ee3\u8b1d\u7570\u5e38\u3084\u907a\u4f1d\u75c5\u306b\u304a\u3051\u308b\u304f\u308b\u75c5\u3068\u9aa8\u306e\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\">\u8a3a\u65ad\u5dee\u5225\u306b\u304a\u3044\u3066\u3001\u30e9\u30ad\u30bf\u30df\u30a2\u3068\u5148\u5929\u6027\u4ee3\u8b1d\u969c\u5bb3\u304a\u3088\u3073\u907a\u4f1d\u7684\u75be\u60a3\u3068\u306e\u533a\u5225\u306b\u306f\u3001\u7279\u306b\u91cd\u8981\u306a\u751f\u5316\u5b66\u6a19\u8a18\u3092\u8a55\u4fa1\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002 <strong>\u30a2\u30eb\u30ab\u30ea\u6027\u30d5\u30a7\u30b9\u30d1\u30bf\u30fc\u30bc\uff08FA\uff09 serum<\/strong>\u3001 <strong>\u30d5\u30a9\u30b9\u30d5\u30a1\u30c8<\/strong> \u305d\u3057\u3066 <strong>\u30ab\u30eb\u30b7\u30a6\u30e0<\/strong>\u305f\u3060\u3057\u3001\u591a\u304f\u306e\u7a00\u6709\u306a\u75be\u60a3\u304c\u4e00\u822c\u7684\u306a\u6804\u990a\u6027\u30e9\u30ad\u30bf\u30fc\u30b7\u30b9\u30c6\u30e0\u306e\u81e8\u5e8a\u304a\u3088\u3073\u653e\u5c04\u7dda\u7684\u73fe\u8c61\u3068\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u8a3a\u65ad\u5dee\u5225\u7684\u5173\u952e<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d2\u30dd\u30d5\u30a9\u30b9\u30d5\u30a1\u30bf\u30fc\u30b7\u30a2\uff08\uff28\uff30\uff30\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u30bf\u30a4\u30d7\uff1a<\/em> \u5148\u5929\u7684\u306a\u4ee3\u8b1d\u306e\u8aa4\u308a\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u5b50\u306e\u5909\u7570 <em>ALPL<\/em> \uff08\u30a4\u30f3\u30b9\u30d5\u30a3\u30ea\u30a2\u30fc\u30c7\u30a3\u30b7\u30d5\u30a3\u30b1\u30fc\u30b7\u30e7\u30f3\u30fb\u30aa\u30d5\u30bb\u30f3\u30c8\u30fb\u30a2\u30c3\u30ab\u30e9\u30a4\u30ca\u30fb\u30d5\u30a9\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff09<\/li>\n\n\n\n<li><em>\u7279\u5fb4\u7684\u75c7\u72b6\uff1a<\/em> <strong>\u30d1\u30e9\u30c9\u30c3\u30af\u30b9\u7684\u306b\u4f4e\u3044FA\u30bb\u30ea\u30ab\u30fc\u30ca\u30a4\u30d5<\/strong> \uff08\u305f\u3060\u3057\u3001\u4e00\u822c\u7684\u306a\u30e9\u30ad\u30c6\u30a3\u30b9\u30e0\u3067\u306f\u3088\u308a\u5f37\u304f\u5897\u52a0\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001\u30d5\u30a9\u30b9\u30d5\u30a1\u30c8\u30a8\u30bf\u30ce\u30fc\u30eb\u30a2\u30df\u30f3\u306e\u4e0a\u6607\u3068\u3068\u3082\u306b\u3001\u767a\u4f5c\u3084\u91cd\u5ea6\u306e\u9aa8\u8cea\u8017\u640d\u30ea\u30b9\u30af\u3082\u4f34\u3046\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30a2\u30c8\u30e9\u30f3\u30c6\u30a3\u30c3\u30af\u30fb\u30d2\u30dd\u30d5\u30a1\u30b9\u30d5\u30a9\u30fc\u30de\u30c1\u30c3\u30af\u30fb\u30d2\u30d4\u30bf\u30ea\u30fc\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u30bf\u30a4\u30d7\uff1a<\/em> \u907a\u4f1d\u6027\u30ea\u30f3\u30d1\u7403\u75c7\u306e\u969c\u5bb3\uff08\u4f8b\uff1aX\u67d3\u8272\u4f53\u306b\u9023\u95a2\u3059\u308b\u5909\u7570\uff09 <em>PHEX<\/em>\u3001\u307e\u305f\u306f\u95a2\u9023\u3059\u308bautosomal dominant\u306e\u5f62\u614b\u3082\u542b\u3080\u3002 <em>FGF23<\/em> o <em>DMP1<\/em>).<\/li>\n\n\n\n<li><em>\u7279\u5fb4\u7684\u75c7\u72b6\uff1a<\/em> <strong>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7<\/strong> \u91cd\u5ea6\u30fb1,25-\u30c7\u30d2\u30c9\u30ed\u30d3\u30bf\u30df\u30f3D\u306e\u30ec\u30d9\u30eb\u304c\u4f4e\u307e\u305f\u306f\u6b63\u5e38\u306a\u5834\u5408\u3001FA\u304c\u9ad8\u3081\u3067\u3042\u308b\u304c\u3001 <strong>25-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d3\u30bf\u30df\u30f3D\u306e\u6b63\u5e38\u5024<\/strong>.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>D-VDDR\uff1a\u30d3\u30bf\u30df\u30f3D\u306e\u4f9d\u5b58\u6027\u30e9\u30af\u30a4\u30c1\u30a2\u30fc\u30b7\u30b9<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>1A\/1B:<\/em> \u907a\u4f1d\u7684\u6b20\u640d\u306b\u3088\u308b\u30d3\u30bf\u30df\u30f3D\u306e\u5408\u6210\u307e\u305f\u306f\u751f\u4f53\u6d3b\u6027\u306e\u969c\u5bb3\uff08\u4f8b\u3048\u3070\u3001\u814e\u81d3\u306b\u304a\u3051\u308b1\u03b1-\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc\u306e\u4e0d\u8db3\uff09<\/li>\n\n\n\n<li><em>2A\/2B:<\/em> D2\u53d7\u4f53\u306e\u5909\u7570\u3002<\/li>\n\n\n\n<li><em>\u7279\u5fb4\u7684\u75c7\u72b6\uff1a<\/em> \u30bf\u30a4\u30d72\u306f\u30011,25-(\u30aa\u30ad\u30b7\u30c9)\u30c0\u30a4\u30cb\u30c8\u30ea\u30eb\u306e\u6fc3\u5ea6\u304c\u6975\u3081\u3066\u9ad8\u304f\u3001\u983b\u7e41\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 <strong>\u5168\u7136\u306e\u30a2\u30ed\u30da\u30b7\u30a2<\/strong>\u3053\u308c\u306b\u3088\u308a\u3001\u30af\u30e9\u30b7\u30c3\u30af\u306a\u30e9\u30ad\u30bf\u30b9\u3068\u30bf\u30a4\u30d71\u3068\u306e\u9055\u3044\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30f3\u30b3\u30d5\u30a3\u30cb\u306e\u75c7\u5019\u7fa4\uff08\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u30fb\u30bf\u30f3\u30d1\u30e9\u30eb\u30ec\u30f3\u30a2\u30eb\uff0f\u30d7\u30ed\u30ad\u30b7\u30de\u30fc\u30d1\u30c8\u30ea\u30fc\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u30bf\u30a4\u30d7\uff1a<\/em> \u62e1\u6563\u578b\u8fd1\u7aef\u814e\u5c0f\u7ba1\u6a5f\u80fd\u969c\u5bb3\u3001\u3053\u308c\u306f\u907a\u4f1d\u7684\uff08\u30c1\u30b9\u30c8\u30cb\u30b7\u30f3\u75c7\u3001\u30ef\u30a4\u30eb\u30bd\u30f3\u75c5\u306a\u3069\uff09\u307e\u305f\u306f\u7372\u5f97\u7684\u306a\u3082\u306e\u3067\u3042\u308b\u3002<\/li>\n\n\n\n<li><em>\u7279\u5fb4\u7684\u75c7\u72b6\uff1a<\/em> \u5c3f\u7d20\u30fb\u30b0\u30eb\u30b3\u30fc\u30b9\u30fb\u30a2\u30df\u30ce\u9178\u30fb\u70ad\u9178\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u5927\u91cf\u5931\u308f\u308c\u3001\u3053\u308c\u306b\u3088\u308a\u5168\u8eab\u9178\u4e2d\u6bd2\u304a\u3088\u3073\u9aa8\u8cea\u8017\u640d\u304c\u751f\u3058\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u5909\u5f62\u75c7\u3068\u4fdd\u5b58\u6a5f\u80fd\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>\u30b8\u30e3\u30f3\u30bb\u30f3\u306e\u30e1\u30bf\u30d5\u30a3\u30b9\u30a2\u30ea\u30a2\u30fc\u30c7\u30a3\u30b7\u30c6\u30a3\uff1a<\/em> autosomal dominant rare condition that mimics metaphysiological alterations of scurvy.<\/li>\n\n\n\n<li><em>\u30de\u30af\u30ed\u30dd\u30ea\u30b9\u30ab\u30e9\u30a4\u30c9\u30fc\u30b7\u30ba\u30e0\uff1a\u30de\u30af\u30ed\u30dd\u30ea\u30b9\u30ab\u30e9\u30a4\u30c9\u30fc\u30b7\u30ba\u30e0<\/em> \u9aa8\u306e\u7570\u5e38\u306a\u767a\u73fe\u304c\u65e9\u671f\u306b\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u305d\u308c\u304c\u30e9\u30ad\u30bf\u30b7\u30e0\u3068\u533a\u5225\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>\u9aa8\u8edf\u5316\u75c7\uff1a osteog\u00e9nesis imperfecta<\/em> \u30b3\u30e9\u30b2\u30ca\u306e\u6b20\u5982\u3084\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3059\u9aa8\u6298\u983b\u767a\u304a\u3088\u3073\u9aa8\u8cea\u8edf\u5316\u3001\u6642\u306b\u306f\u91cd\u5ea6\u306e\u30e9\u30ad\u30c6\u30a3\u30a2\u30df\u30ce\u75c7\u3092\u793a\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u57fa\u672c\u8a3a\u65ad\u691c\u51fa\u6226\u7565<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u6c7a\u5b9a\u3059\u308b <strong>\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30ea\u30f3\u9178\u5869\u3001\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u304a\u3088\u3073FA\uff08\u30d5\u30a3\u30d6\u30ea\u30eb\u4e8c\u9178\u5316\u7269\uff09\u304c\u8840\u4e2d\u306b\u3042\u308b\u3002<\/strong>.<\/li>\n\n\n\n<li>\u6e2c\u5b9a <strong>25-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d3\u30bf\u30df\u30f3D<\/strong> y <strong>1,25-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d3\u30bf\u30df\u30f3D<\/strong>.<\/li>\n\n\n\n<li>\u8a55\u4fa1\u3059\u308b <strong>\u814e\u7ba1\u6a5f\u80fd<\/strong> \uff08\u5c3f\u4e2d\u306e\u30d5\u30a9\u30b9\u30d5\u30a1\u30c8\u3001\u30a2\u30df\u30ce\u9178\u3001\u30b0\u30eb\u30b3\u30fc\u30b9\u304a\u3088\u3073\u8840\u4e2d\/\u5c3f\u4e2d\u306epH\u5024\uff09\u3092\u7528\u3044\u3066\u30d5\u30a1\u30f3coni\u75c7\u5019\u7fa4\u307e\u305f\u306f\u5b64\u7acb\u3057\u305f\u30d5\u30a9\u30b9\u30d5\u30a1\u30c8\u306e\u6b20\u4e4f\u3092\u9664\u5916\u3059\u308b\u3002<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"<p>\u8a3a\u65ad\u5dee\u5225\u306b\u304a\u3051\u308b\u30e9\u30ad\u30bf\u30df\u30a2\u306e\u8a3a\u65ad\u306f\u3001\u5148\u5929\u6027\u4ee3\u8b1d\u969c\u5bb3\u3084\u907a\u4f1d\u7684\u75be\u60a3\u3068\u306e\u533a\u5225\u3092\u6c42\u3081\u308b\u969b\u306b\u306f\u3001\u4e3b\u8981\u306a\u751f\u5316\u5b66\u6a19\u8a18\u7269\uff08\u7279\u306b\u30a2\u30eb\u30ab\u30ea fosfatase\uff08FA\uff09\u30bb\u30ea\u30c3\u30af\u3001\u30ea\u30f3\u9178\u304a\u3088\u3073\u30ab\u30eb\u30b7\u30a6\u30e0\uff09\u306e\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u7a00\u6709\u306a\u75c5\u614b\u306f\u30e9\u30ad\u30bf\u30df\u30a2\u306e\u81e8\u5e8a\u304a\u3088\u3073\u653e\u5c04\u7dda\u691c\u67fb\u306e\u73fe\u8c61\u3068\u4f3c\u3066\u3044\u308b\u3002\u8a3a\u65ad\u5dee\u5225\u9375\u306e\u57fa\u672c\u7684\u306a cribing \u30d1\u30bf\u30fc\u30f3<\/p>","protected":false},"author":1,"featured_media":8739,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-8734","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8734","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=8734"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8734\/revisions"}],"predecessor-version":[{"id":8740,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/8734\/revisions\/8740"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/8739"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=8734"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=8734"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=8734"}],"curies":[{"name":"\u3046\u30fc\u3093","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}