{"id":60192,"date":"2023-08-24T15:47:00","date_gmt":"2023-08-24T06:47:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60192"},"modified":"2026-05-08T12:37:54","modified_gmt":"2026-05-08T03:37:54","slug":"hypophosphatasia","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypophosphatasia\/","title":{"rendered":"\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff08Hypophosphatasia, HPP\uff09\u306f\u3001\u9aa8\u3084\u6b6f\u306e\u77f3\u7070\u5316\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002ALPL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u306f\u51fa\u751f\u524d\u304b\u3089\u6210\u4eba\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001HPP\u306e\u75c5\u56e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>ALPL\uff5cHypophosphatasia (ALPL-related)<\/p>\n\n\n\n<p><sup>Phosphoethanolaminuria; Deficiency of Alkaline Phosphatase; Rathbun Disease<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff08Hypophosphatasia, HPP\uff09\u306f\u3001ALKP\u907a\u4f1d\u5b50\uff08ALPL\uff09\u306e\u5909\u7570\u306b\u3088\u308b\u7a00\u306a\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3042\u308a\u3001\u7d44\u7e54\u975e\u7279\u7570\u7684\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08TNSALP\uff09\u306e\u6d3b\u6027\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u9aa8\u304a\u3088\u3073\u6b6f\u306e\u77f3\u7070\u5316\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u75c7\u72b6\u306f\u51fa\u751f\u524d\u306e\u81f4\u6b7b\u7684\u306a\u9aa8\u767a\u80b2\u969c\u5bb3\u304b\u3089\u3001\u6210\u4eba\u671f\u306b\u304a\u3051\u308b\u53cd\u5fa9\u6027\u306e\u9aa8\u6298\u3084\u7b4b\u9aa8\u683c\u7cfb\u306e\u75db\u307f\u306b\u81f3\u308b\u307e\u3067\u3001\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308b\u3002\u7279\u306b\u3001\u4e73\u5150\u671f\u767a\u75c7\u578b\u3067\u306f\u547c\u5438\u4e0d\u5168\u3084\u30d3\u30bf\u30df\u30f3B6\u4f9d\u5b58\u6027\u75d9\u6523\u3001\u767a\u80b2\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u4e00\u65b9\u3067\u3001\u6700\u3082\u8efd\u75c7\u306e\u6b6f\u79d1\u578b\uff08\u30aa\u30c9\u30f3\u30c8\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff09\u3067\u306f\u6b6f\u306e\u767a\u80b2\u7570\u5e38\u3084\u65e9\u671f\u8131\u843d\u304c\u4e3b\u306a\u75c7\u72b6\u3068\u306a\u308b\u3002\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u304a\u3088\u3073\u5e38\u67d3\u8272\u4f53\u512a\u6027\u306e\u4e21\u65b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>HPP\u306e\u6709\u75c5\u7387\u306f\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u6700\u3082\u91cd\u75c7\u306a\u5468\u7523\u671f\u578b\u304a\u3088\u3073\u4e73\u5150\u578b\u306e\u767a\u75c7\u7387\u306f\u3001\u30ab\u30ca\u30c0\u306e\u30aa\u30f3\u30bf\u30ea\u30aa\u5dde\u306b\u304a\u3044\u30661\/100,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u30d5\u30e9\u30f3\u30b9\u3067\u306f1\/300,000\u3068\u3055\u308c\u308b\u3002\u4e00\u65b9\u3001\u8efd\u75c7\u578b\u3092\u542b\u3081\u308b\u3068\u3001\u767a\u75c7\u7387\u306f1\/6,300\u304b\u30891\/2,430\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u306b\u304a\u3051\u308b\u5275\u59cb\u8005\u5909\u7570\u306e\u5f71\u97ff\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4f8b\u3048\u3070\u30ab\u30ca\u30c0\u30fb\u30e1\u30ce\u30ca\u30a4\u30c8\u96c6\u56e3\u3067\u306f\u5468\u7523\u671f\u578b\u306e\u767a\u75c7\u7387\u304c1\/2,500\u3068\u3055\u308c\u308b\u3002\u65e5\u672c\u3067\u306f\u3001\u75c5\u7684\u5909\u7570c.1559delT\u306e\u983b\u5ea6\u3092\u57fa\u306b\u3001\u91cd\u75c7\u578bHPP\u306e\u51fa\u751f\u983b\u5ea6\u306f1\/150,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>HPP\u306f\u3001ALPL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308aTNSALP\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u3001\u305d\u306e\u7d50\u679c\u3001\u7121\u6a5f\u30d4\u30ed\u30ea\u30f3\u9178\uff08PPi\uff09\u3001\u30d4\u30ea\u30c9\u30ad\u30b5\u30fc\u30eb5&#8242;-\u30ea\u30f3\u9178\uff08PLP\uff09\u3001\u30db\u30b9\u30db\u30a8\u30bf\u30ce\u30fc\u30eb\u30a2\u30df\u30f3\uff08PEA\uff09\u306e\u5206\u89e3\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002PPi\u306e\u84c4\u7a4d\u306f\u9aa8\u77f3\u7070\u5316\u3092\u963b\u5bb3\u3057\u3001\u30ea\u30b1\u30c3\u30c1\u3084\u9aa8\u8edf\u5316\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002PLP\u306e\u4ee3\u8b1d\u969c\u5bb3\u306b\u3088\u308a\u4e2d\u67a2\u795e\u7d4c\u7cfb\u3067\u306e\u30d3\u30bf\u30df\u30f3B6\u6b20\u4e4f\u304c\u751f\u3058\u3001\u91cd\u75c7\u578bHPP\u306e\u4e73\u5150\u306b\u304a\u3044\u3066\u306f\u30d3\u30bf\u30df\u30f3B6\u4f9d\u5b58\u6027\u75d9\u6523\u304c\u767a\u751f\u3059\u308b\u3002ALPL\u5909\u7570\u306e\u5927\u90e8\u5206\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3042\u308a\u3001\u512a\u6027\u30cd\u30ac\u30c6\u30a3\u30d6\u52b9\u679c\u3092\u6301\u3064\u5909\u7570\u304c\u512a\u6027\u907a\u4f1d\u578b\u306eHPP\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>HPP\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u767a\u75c7\u5e74\u9f62\u3084\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u304c\u3001\u4e00\u822c\u306b\u4ee5\u4e0b\u306e7\u3064\u306e\u81e8\u5e8a\u578b\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5468\u7523\u671f\u578b\uff08\u91cd\u75c7\uff09<\/strong>\uff1a\u51fa\u751f\u524d\u307e\u305f\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u767a\u75c7\u3057\u3001\u91cd\u5ea6\u306e\u9aa8\u767a\u80b2\u7570\u5e38\u3001\u547c\u5438\u4e0d\u5168\u3001\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3092\u4f34\u3046\u3002\u591a\u304f\u306e\u75c7\u4f8b\u3067\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5468\u7523\u671f\u578b\uff08\u826f\u6027\uff09<\/strong>\uff1a\u51fa\u751f\u524d\u306e\u9aa8\u7570\u5e38\u304c\u51fa\u751f\u5f8c\u306b\u6539\u5584\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u5150\u578b<\/strong>\uff1a\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u306b\u767a\u75c7\u3057\u3001\u30ea\u30b1\u30c3\u30c1\u69d8\u306e\u9aa8\u7570\u5e38\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u767a\u80b2\u969c\u5bb3\u3001\u30d3\u30bf\u30df\u30f3B6\u4f9d\u5b58\u6027\u75d9\u6523\u304c\u307f\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u578b\uff08\u91cd\u75c7\uff09<\/strong>\uff1a\u9032\u884c\u6027\u306e\u30ea\u30b1\u30c3\u30c1\u3001\u77ed\u8eab\u3001\u6b69\u884c\u56f0\u96e3\u3001\u9aa8\u75db\u304c\u4e3b\u306a\u75c7\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u578b\uff08\u8efd\u75c7\uff09<\/strong>\uff1a\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3084\u4e73\u6b6f\u306e\u65e9\u671f\u8131\u843d\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u578b<\/strong>\uff1a\u30b9\u30c8\u30ec\u30b9\u9aa8\u6298\u3084\u507d\u9aa8\u6298\u3001\u65e9\u671f\u306e\u6210\u4eba\u6b6f\u8131\u843d\u3001\u95a2\u7bc0\u75db\u304c\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u578b\uff08\u30aa\u30c9\u30f3\u30c8HPP\uff09<\/strong>\uff1a\u9aa8\u7570\u5e38\u3092\u4f34\u308f\u305a\u3001\u6b6f\u306e\u767a\u80b2\u7570\u5e38\u3084\u65e9\u671f\u8131\u843d\u306e\u307f\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>HPP\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u767a\u75c7\u5e74\u9f62\u3084\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u304c\u3001\u4e00\u822c\u306b\u4ee5\u4e0b\u306e7\u3064\u306e\u81e8\u5e8a\u578b\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5468\u7523\u671f\u578b\uff08\u91cd\u75c7\uff09<\/strong>\uff1a\u51fa\u751f\u524d\u307e\u305f\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u767a\u75c7\u3057\u3001\u91cd\u5ea6\u306e\u9aa8\u767a\u80b2\u7570\u5e38\u3001\u547c\u5438\u4e0d\u5168\u3001\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3092\u4f34\u3046\u3002\u591a\u304f\u306e\u75c7\u4f8b\u3067\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5468\u7523\u671f\u578b\uff08\u826f\u6027\uff09<\/strong>\uff1a\u51fa\u751f\u524d\u306e\u9aa8\u7570\u5e38\u304c\u51fa\u751f\u5f8c\u306b\u6539\u5584\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u5150\u578b<\/strong>\uff1a\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u306b\u767a\u75c7\u3057\u3001\u30ea\u30b1\u30c3\u30c1\u69d8\u306e\u9aa8\u7570\u5e38\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u767a\u80b2\u969c\u5bb3\u3001\u30d3\u30bf\u30df\u30f3B6\u4f9d\u5b58\u6027\u75d9\u6523\u304c\u307f\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u578b\uff08\u91cd\u75c7\uff09<\/strong>\uff1a\u9032\u884c\u6027\u306e\u30ea\u30b1\u30c3\u30c1\u3001\u77ed\u8eab\u3001\u6b69\u884c\u56f0\u96e3\u3001\u9aa8\u75db\u304c\u4e3b\u306a\u75c7\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u578b\uff08\u8efd\u75c7\uff09<\/strong>\uff1a\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3084\u4e73\u6b6f\u306e\u65e9\u671f\u8131\u843d\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u578b<\/strong>\uff1a\u30b9\u30c8\u30ec\u30b9\u9aa8\u6298\u3084\u507d\u9aa8\u6298\u3001\u65e9\u671f\u306e\u6210\u4eba\u6b6f\u8131\u843d\u3001\u95a2\u7bc0\u75db\u304c\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u578b\uff08\u30aa\u30c9\u30f3\u30c8HPP\uff09<\/strong>\uff1a\u9aa8\u7570\u5e38\u3092\u4f34\u308f\u305a\u3001\u6b6f\u306e\u767a\u80b2\u7570\u5e38\u3084\u65e9\u671f\u8131\u843d\u306e\u307f\u304c\u898b\u3089\u308c\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\u6a19\u7684\u6cbb\u7642<\/h3>\n\n\n\n<p>\u30a2\u30b9\u30db\u30bf\u30fc\u30bc\u30a2\u30eb\u30d5\u30a1\uff08Strensiq\u00ae\uff09\u306f\u3001\u5e7c\u5150\u578b\u304a\u3088\u3073\u5c0f\u5150\u578bHPP\u306b\u5bfe\u3059\u308b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09\u3068\u3057\u3066\u627f\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u9aa8\u77f3\u7070\u5316\u306e\u6539\u5584\u3084\u751f\u5b58\u7387\u5411\u4e0a\u306b\u5bc4\u4e0e\u3059\u308b\u3002\u6210\u4eba\u578b\u306e\u9aa8\u8edf\u5316\u75c7\u306b\u5bfe\u3059\u308b\u4f7f\u7528\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u652f\u6301\u7642\u6cd5<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5468\u7523\u671f\u578b\uff08\u91cd\u75c7\uff09<\/strong>\uff1a\u547c\u5438\u7ba1\u7406\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u4ee3\u8b1d\u306e\u8abf\u6574\u3001\u93ae\u75db\u3001\u814e\u6a5f\u80fd\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u5150\u578b\u30fb\u5c0f\u5150\u578b<\/strong>\uff1a\u547c\u5438\u7ba1\u7406\u3001\u9aa8\u5065\u5eb7\u7ba1\u7406\u3001\u93ae\u75db\u3001\u30d3\u30bf\u30df\u30f3B6\u88dc\u5145\u3001\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u7ba1\u7406\u3001\u6b6f\u79d1\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u578b\u30fb\u30aa\u30c9\u30f3\u30c8HPP<\/strong>\uff1a\u6b6f\u79d1\u30b1\u30a2\u3001\u9aa8\u75db\u3084\u9aa8\u8edf\u5316\u75c7\u306e\u6cbb\u7642\u3001\u507d\u9aa8\u6298\u306e\u5185\u56fa\u5b9a\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u4e88\u9632\u7b56\u3068\u6ce8\u610f\u70b9<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907f\u3051\u308b\u3079\u304d\u85ac\u5264<\/strong>\uff1a\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u3001\u904e\u5270\u306a\u30d3\u30bf\u30df\u30f3D\u3001\u30c6\u30ea\u30d1\u30e9\u30c1\u30c9\uff08\u5c0f\u5150\u3067\u7981\u5fcc\uff09\u3002<\/li>\n\n\n\n<li><strong>\u598a\u5a20\u7ba1\u7406<\/strong>\uff1a\u30a2\u30b9\u30db\u30bf\u30fc\u30bc\u30a2\u30eb\u30d5\u30a1\u306e\u598a\u5a20\u4e2d\u306e\u5b89\u5168\u6027\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>HPP\u306e\u4e88\u5f8c\u306f\u767a\u75c7\u5e74\u9f62\u3068\u91cd\u75c7\u5ea6\u306b\u4f9d\u5b58\u3059\u308b\u3002\u5468\u7523\u671f\u578b\uff08\u91cd\u75c7\uff09\u306f\u9ad8\u3044\u81f4\u6b7b\u7387\u3092\u793a\u3059\u304c\u3001ERT\u306b\u3088\u308a\u6539\u5584\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308b\u3002\u4e73\u5150\u578b\u306f\u672a\u6cbb\u7642\u3067\u306f\u7d0450%\u306e\u6b7b\u4ea1\u7387\u3092\u793a\u3059\u304c\u3001ERT\u306b\u3088\u308a\u751f\u5b58\u7387\u304c\u5411\u4e0a\u3059\u308b\u3002\u5c0f\u5150\u578b\u304a\u3088\u3073\u6210\u4eba\u578b\u3067\u306f\u3001\u75c5\u7684\u9aa8\u6298\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002\u30aa\u30c9\u30f3\u30c8HPP\u306f\u4e00\u822c\u306b\u826f\u597d\u306a\u4e88\u5f8c\u3092\u793a\u3059\u304c\u3001\u6b6f\u79d1\u7684\u7ba1\u7406\u304c\u91cd\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\u306f\u591a\u69d8\u306a\u81e8\u5e8a\u7d4c\u904e\u3092\u305f\u3069\u308b\u305f\u3081\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u5fdc\u3058\u305f\u9069\u5207\u306a\u6cbb\u7642\u3068\u7ba1\u7406\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1150\/\">Nunes ME. Hypophosphatasia. 2007 Nov 20 [Updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.&nbsp;Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1150\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.63781\">Kishnani, P. S., Seefried, L., Dahir, K. M., Martos\u2010Moreno, G. \u00c1., Linglart, A., Petryk, A., Mowrey, W. R., Fang, S., Ozono, K., H\u00f6gler, W., &amp; Rockman\u2010Greenberg, C. (2024). New insights into the landscape of <em>ALPL<\/em> gene variants in patients with hypophosphatasia from the Global HPP Registry. <em>American Journal of Medical Genetics Part A<\/em>, <em>194<\/em>(11), e63781. https:\/\/doi.org\/10.1002\/ajmg.a.63781<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1210\/clinem\/dgab914\">Marini, F., Masi, L., Giusti, F., Cianferotti, L., Cioppi, F., Marcucci, G., Ciuffi, S., Biver, E., Toro, G., Iolascon, G., Iantomasi, T., &amp; Brandi, M. L. (2022). <em>Alpl<\/em> genotypes in patients with atypical femur fractures or other biochemical and clinical signs of hypophosphatasia. <em>The Journal of Clinical Endocrinology &amp; Metabolism<\/em>, <em>107<\/em>(5), e2087\u2013e2094. https:\/\/doi.org\/10.1210\/clinem\/dgab914<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fendo.2023.1320516\">Mart\u00ednez-Heredia, L., Mu\u00f1oz-Torres, M., Sanabria-de La Torre, R., Jim\u00e9nez-Ortas, \u00c1., And\u00fajar-Vera, F., Gonz\u00e1lez-Cejudo, T., Contreras-Bol\u00edvar, V., Gonz\u00e1lez-Salvatierra, S., G\u00f3mez-Vida, J. M., Garc\u00eda-Fontana, C., &amp; Garc\u00eda-Fontana, B. (2024). Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene. <em>Frontiers in Endocrinology<\/em>, <em>14<\/em>, 1320516. https:\/\/doi.org\/10.3389\/fendo.2023.1320516<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00223-025-01356-y\">Seefried, L., Genest, F., Hofmann, C. <em>et al.<\/em> Diagnosis and Treatment of Hypophosphatasia. <em>Calcif Tissue Int<\/em> <strong>116<\/strong>, 46 (2025). https:\/\/doi.org\/10.1007\/s00223-025-01356-y<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7, Hypophosphatasia, HPP, ALPL\u907a\u4f1d\u5b50, \u7d44\u7e54\u975e\u7279\u7570\u7684\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc, \u9aa8\u8edf\u5316\u75c7, \u30ea\u30b1\u30c3\u30c1, \u507d\u9aa8\u6298, \u9175\u7d20\u88dc\u5145\u7642\u6cd5, \u30a2\u30b9\u30db\u30bf\u30fc\u30bc\u30a2\u30eb\u30d5\u30a1, \u907a\u4f1d\u5b50\u5909\u7570, \u65e9\u671f\u6b6f\u306e\u8131\u843d<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60192","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60192","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60192\/revisions"}],"predecessor-version":[{"id":128085,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60192\/revisions\/128085"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60192"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}