{"id":33645,"date":"2022-07-11T17:27:25","date_gmt":"2022-07-11T08:27:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33645"},"modified":"2026-04-28T13:20:54","modified_gmt":"2026-04-28T04:20:54","slug":"pycnody-sostosis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pycnody-sostosis\/","title":{"rendered":"\u6fc3\u5316\u7570\u9aa8\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>\u30d4\u30af\u30ce\u30c7\u30a3\u30bd\u30b9\u30c8\u30fc\u30b7\u30b9\uff08Pycnodysostosis\uff09\u306f\u3001CTSK\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u9aa8\u786c\u5316\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u9aa8\u5bc6\u5ea6\u306e\u7570\u5e38\u306a\u5897\u52a0\u3001\u4f4e\u8eab\u9577\u3001\u9aa8\u306e\u8106\u5f31\u6027\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u6b6f\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002CTSK\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30ab\u30c6\u30d7\u30b7\u30f3K\u9175\u7d20\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u9aa8\u306e\u6b63\u5e38\u306a\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u304c\u963b\u5bb3\u3055\u308c\u3001\u9aa8\u683c\u7570\u5e38\u304c\u767a\u751f\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30d4\u30af\u30ce\u30c7\u30a3\u30bd\u30b9\u30c8\u30fc\u30b7\u30b9\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30fb\u7ba1\u7406\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>CTSK\uff5cPycnodysostosis<\/p>\n\n\n\n<p><sup>PYCD; <\/sup><sup>Pyknodysostosis; PKND; CTSK-Related Pyknodysostosis; Toulouse-Lautrec Syndrome<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d4\u30af\u30ce\u30c7\u30a3\u30bd\u30b9\u30c8\u30fc\u30b7\u30b9\u306f\u3001\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u9aa8\u786c\u5316\u6027\u9aa8\u683c\u75be\u60a3\uff08osteosclerotic skeletal disorder\uff09\u3067\u3042\u308a\u3001CTSK\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30ab\u30c6\u30d7\u30b7\u30f3K\uff08Cathepsin K\uff09\u3068\u3044\u3046\u30ea\u30bd\u30bd\u30fc\u30e0\u30b7\u30b9\u30c6\u30a4\u30f3\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\uff08lysosomal cysteine protease\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7279\u306b\u7834\u9aa8\u7d30\u80de\uff08osteoclasts\uff09\u3067\u9ad8\u304f\u767a\u73fe\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30c6\u30d7\u30b7\u30f3K\u306f\u3001\u9aa8\u5438\u53ce\uff08bone resorption\uff09\u3068\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\uff08remodeling\uff09\u306b\u4e0d\u53ef\u6b20\u306a\u9175\u7d20\u3067\u3042\u308a\u3001\u9aa8\u306e\u4e3b\u8981\u306a\u69cb\u6210\u8981\u7d20\u3067\u3042\u308bI\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u3084\u30aa\u30b9\u30c6\u30aa\u30dd\u30f3\u30c1\u30f3\uff08osteopontin\uff09\u3092\u5206\u89e3\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u304c\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001\u9aa8\u306e\u4ee3\u8b1d\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u305a\u3001\u9aa8\u5bc6\u5ea6\u306e\u5897\u52a0\uff08\u9aa8\u786c\u5316\u75c7, osteosclerosis\uff09\u3084\u7279\u6709\u306e\u9aa8\u683c\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f1962\u5e74\u306bMaroteaux\u3068Lamy\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3001\u540c\u3058\u304f\u9aa8\u786c\u5316\u75c7\u3092\u7279\u5fb4\u3068\u3059\u308b\u9aa8\u786c\u5316\u75c7\uff08\u30aa\u30b9\u30c6\u30aa\u30da\u30c8\u30ed\u30fc\u30b7\u30b9, osteopetrosis\uff09\u3068\u306f\u7570\u306a\u308b\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u307e\u305f\u3001\u30d5\u30e9\u30f3\u30b9\u306e\u753b\u5bb6\u30c8\u30a5\u30fc\u30eb\u30fc\u30ba\uff1d\u30ed\u30fc\u30c8\u30ec\u30c3\u30af\uff08Toulouse-Lautrec\uff09\u304c\u672c\u75be\u60a3\u3067\u3042\u3063\u305f\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30d4\u30af\u30ce\u30c7\u30a3\u30bd\u30b9\u30c8\u30fc\u30b7\u30b9\u306f<strong>\u8d85\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u63a8\u5b9a\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u301c1.7\u4eba<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b<strong>\u7d04200\u4f8b<\/strong>\u304c\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u672c\u75be\u60a3\u306e\u75c7\u4f8b\u306e\u3046\u3061<strong>30%\u4ee5\u4e0a<\/strong>\u3067\u8fd1\u89aa\u5a5a\uff08\u89aa\u540c\u58eb\u304c\u8840\u7e01\u95a2\u4fc2\u306b\u3042\u308b\uff09\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u4e00\u5375\u6027\u53cc\u751f\u5150\uff08\u907a\u4f1d\u7684\u306b\u5b8c\u5168\u306b\u4e00\u81f4\u3059\u308b\u53cc\u5b50\uff09\u306e\u75c7\u4f8b\u3067\u306f\u3001\u4e21\u8005\u304c\u672c\u75be\u60a3\u3092\u767a\u75c7\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u539f\u56e0\u306f\u3001<strong>CTSK\u907a\u4f1d\u5b50\uff08\u67d3\u8272\u4f531q21\u306b\u4f4d\u7f6e\uff09\u306e\u5909\u7570\u306b\u3088\u308b\u30ab\u30c6\u30d7\u30b7\u30f3K\u306e\u6a5f\u80fd\u55aa\u5931<\/strong>\u3067\u3059\u3002CTSK\u907a\u4f1d\u5b50\u306f8\u3064\u306e\u30a8\u30af\u30bd\u30f3\uff08\u907a\u4f1d\u5b50\u306e\u30b3\u30fc\u30c9\u9818\u57df\uff09\u30687\u3064\u306e\u30a4\u30f3\u30c8\u30ed\u30f3\uff08\u975e\u30b3\u30fc\u30c9\u9818\u57df\uff09<strong>\u3092\u542b\u307f\u3001\u30b2\u30ce\u30e0DNA\u5168\u4f53\u306e\u9577\u3055\u306f\u7d04<\/strong>12\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306b\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30c6\u30d7\u30b7\u30f3K\u306emRNA\uff08\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\uff09<strong>\u306f\u3001329\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061<\/strong>15\u30a2\u30df\u30ce\u9178\u306e\u30b7\u30b0\u30ca\u30eb\u914d\u5217\uff08signal sequence\uff09<strong>\u3068<\/strong>99\u30a2\u30df\u30ce\u9178\u306e\u30ea\u30fc\u30c0\u30fc\u914d\u5217\uff08prosequence\uff09\u3092\u542b\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u672c\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3042\u308b\u305f\u3081\u3001\u5909\u7570\u304c1\u3064\u3060\u3051\uff08\u30d8\u30c6\u30ed\u63a5\u5408\u578b\uff09\u3067\u306f\u767a\u75c7\u305b\u305a\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\uff08\u30db\u30e2\u63a5\u5408\u578b\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u578b\uff09\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u3067\u306f\u30ab\u30c6\u30d7\u30b7\u30f3K\u306e\u30ec\u30d9\u30eb\u304c\u4f4e\u4e0b\u3057\u3066\u3082\u3001\u8868\u73fe\u578b\uff08\u75c7\u72b6\uff09\u304c\u73fe\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09\u304c\u5f71\u97ff\u3057\u306a\u3044\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9aa8\u683c\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577<\/strong>\uff08\u6210\u4eba\u7537\u6027\u3067<strong>150 cm\u672a\u6e80<\/strong>\u3001\u6210\u4eba\u5973\u6027\u3067<strong>130\u301c134 cm<\/strong>\uff09<\/li>\n\n\n\n<li><strong>\u9aa8\u5bc6\u5ea6\u306e\u5897\u52a0\uff08\u9aa8\u786c\u5316\u75c7, osteosclerosis\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u982d\u84cb\u7e2b\u5408\u306e\u9589\u9396\u9045\u5ef6<\/strong>\uff08\u5927\u6cc9\u9580\u306e\u958b\u5b58\u3001\u524d\u984d\u7a81\u51fa\uff09<\/li>\n\n\n\n<li><strong>\u672b\u7aef\u9aa8\u6eb6\u89e3\uff08acroosteolysis\uff09<\/strong>\uff08\u6307\u306e\u5148\u7aef\u306e\u9aa8\u304c\u5f90\u3005\u306b\u6d88\u5931\uff09<\/li>\n\n\n\n<li><strong>\u9396\u9aa8\u306e\u7570\u5f62\u6210<\/strong>\uff0825%\u306e\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li><strong>\u4e73\u7a81\u6d1e\u306e\u672a\u767a\u9054\uff08mastoid non-pneumatization\uff09<\/strong>\uff0880%\u306e\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7\uff08scoliosis, 12%\uff09<\/strong>\u3001<strong>\u811a\u9577\u5dee\uff088%\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u9aa8\u306e\u8106\u5f31\u6027<\/strong>\u306b\u3088\u308b<strong>\u983b\u7e41\u306a\u9aa8\u6298\uff08\u5e74\u9593\u5e73\u57470.2\u56de\uff09\u304a\u3088\u3073\u6cbb\u7652\u9045\u5ef6<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u982d\u84cb\u9854\u9762\u304a\u3088\u3073\u6b6f\u306e\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong>\uff08<strong>\u51f8\u72b6\u306e\u9f3b\u6881\u3001\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7, micrognathia\uff09<\/strong>\u3001\u4e0b\u984e\u89d2\u306e\u920d\u5316\uff09<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38<\/strong>\uff08\u6b6f\u306e\u840c\u51fa\u9045\u5ef6\u3001<strong>\u5148\u5929\u6027\u6b20\u5982\uff08hypodontia\uff09<\/strong>\u3001\u4e0d\u6b63\u54ac\u5408\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u4f4e\u5f62\u6210\u3001\u4e73\u6b6f\u306e\u907a\u6b8b\uff09<\/li>\n\n\n\n<li><strong>\u9ad8\u53e3\u84cb\u307e\u305f\u306f\u53e3\u84cb\u88c2<\/strong>\u3001<strong>\u6b63\u4e2d\u53e3\u84cb\u6e9d<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u795e\u7d4c\u304a\u3088\u3073\u8033\u9f3b\u54bd\u5589\u79d1\u9818\u57df<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u80fd\u306f\u901a\u5e38\u6b63\u5e38<\/strong>\uff08\u8efd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u5ef6\u3092\u4f34\u3046\u4f8b\u3082\u3042\u308a\uff09<\/li>\n\n\n\n<li><strong>\u9589\u585e\u6027\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\uff08OSA\uff09<\/strong>\uff0860%\u4ee5\u4e0a\uff09\u3001<strong>\u5589\u982d\u8edf\u5316\u75c7\uff08laryngomalacia\uff09<\/strong>\uff0820%\uff09<\/li>\n\n\n\n<li><strong>\u4f1d\u97f3\u6027\u96e3\u8074<\/strong>\uff0850%\uff09<\/li>\n\n\n\n<li><strong>\u307e\u308c\u306a\u795e\u7d4c\u5b66\u7684\u7570\u5e38<\/strong>\uff08<strong>\u30ad\u30a2\u30ea\u5947\u5f62\u3001\u8133\u306e\u8131\u9ac4\u75c5\u5909\u3001\u9310\u4f53\u8def\u75c7\u5019\u7fa4<\/strong>\uff09<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7570\u5e38<\/strong>\uff08<strong>\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u982d\u84cb\u5185\u5727\u4ea2\u9032\u306b\u3088\u308b\u8996\u795e\u7d4c\u4e73\u982d\u6d6e\u816b<\/strong>\uff09<\/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<h3 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u7279\u5fb4\u7684\u306a<strong>\u81e8\u5e8a\u304a\u3088\u3073X\u7dda\u6240\u898b<\/strong>\u306b\u57fa\u3065\u3044\u3066\u8a3a\u65ad\u3055\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\u304a\u3088\u3073\u56db\u80a2\u77ed\u7e2e<\/strong><\/li>\n\n\n\n<li><strong>\u9aa8\u786c\u5316\u75c7\u3068\u9aa8\u306e\u8106\u5f31\u6027<\/strong><\/li>\n\n\n\n<li><strong>\u672b\u7aef\u9aa8\u6eb6\u89e3<\/strong><\/li>\n\n\n\n<li><strong>\u982d\u84cb\u7e2b\u5408\u306e\u9589\u9396\u9045\u5ef6<\/strong><\/li>\n\n\n\n<li><strong>\u9854\u9762\u304a\u3088\u3073\u6b6f\u306e\u7570\u5e38<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><\/h3>\n\n\n\n<p><strong>CTSK\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570<\/strong>\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\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\"><strong>\u5bfe\u75c7\u7642\u6cd5<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5<\/strong>\uff08\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6b20\u640d\u4f8b\u306b\u9069\u5fdc\uff09<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u3001\u5074\u5f2f\u75c7\u3001\u811a\u9577\u5dee\u306e\u6574\u5f62\u5916\u79d1\u7684\u7ba1\u7406<\/strong><\/li>\n\n\n\n<li><strong>\u7761\u7720\u6642\u7121\u547c\u5438\uff08OSA\uff09\u306e\u8a55\u4fa1\u3068\u6cbb\u7642<\/strong><\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u304a\u3088\u3073\u77ef\u6b63\u6cbb\u7642<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u8a3a\uff08\u5e741\u56de\u63a8\u5968\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4e88\u9632\u7684\u30b1\u30a2<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e741\u56de\u306e\u5065\u5eb7\u8a3a\u65ad<\/strong>\uff08\u5074\u5f2f\u75c7\u3001\u9aa8\u6298\u3001\u4f53\u91cd\u3001\u5fc3\u7406\u7684\u30b1\u30a2\u306e\u78ba\u8a8d\uff09<\/li>\n\n\n\n<li><strong>2\u5e74\u3054\u3068\u306e\u30dd\u30ea\u30bd\u30e0\u30ce\u30b0\u30e9\u30d5\u30a3\u30fc\uff08OSA\u8a55\u4fa1\uff09<\/strong><\/li>\n\n\n\n<li><strong>C-section\u306e\u691c\u8a0e\uff08\u5c0f\u9aa8\u76e4\u306e\u5973\u6027\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u7981\u5fcc\u85ac<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8<\/strong>\uff08\u9aa8\u5438\u53ce\u3092\u963b\u5bb3\u3059\u308b\u305f\u3081\u4f7f\u7528\u7981\u6b62\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u901a\u5e38\u3001<strong>\u6b63\u5e38\u306a\u5bff\u547d<\/strong>\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u304c\u3001<strong>\u9aa8\u6298\u3084\u547c\u5438\u5668\u5408\u4f75\u75c7<\/strong>\u304c\u751f\u6d3b\u306e\u8cea\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u5b50\u4f9b\u304c\u7f79\u60a3\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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:\/\/doi.org\/10.1359\/jbmr.1999.14.10.1649\">Ho, N., Punturieri, A., Wilkin, D., Szabo, J., Johnson, M., Whaley, J., Davis, J., Clark, A., Weiss, S., &amp; Francomano, C. (1999). Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. <em>Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research<\/em>, <em>14<\/em>(10), 1649\u20131653. https:\/\/doi.org\/10.1359\/jbmr.1999.14.10.1649<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/sj.ejhg.5200481\">Haagerup, A., Hertz, J. M., Christensen, M. F., Binderup, H., &amp; Kruse, T. A. (2000). Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. <em>European journal of human genetics : EJHG<\/em>, <em>8<\/em>(6), 431\u2013436. https:\/\/doi.org\/10.1038\/sj.ejhg.5200481<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1159\/000336581\">Matsushita, M., Kitoh, H., Kaneko, H., Mishima, K., Itoh, Y., Hattori, T., &amp; Ishiguro, N. (2012). Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis. <em>Molecular syndromology<\/em>, <em>2<\/em>(6), 254\u2013258. https:\/\/doi.org\/10.1159\/000336581<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/0022034515573964\">Xue, Y., Wang, L., Xia, D., Li, Q., Gao, S., Dong, M., Cai, T., Shi, S., He, L., Hu, K., Mao, T., &amp; Duan, X. (2015). Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations. <em>Journal of dental research<\/em>, <em>94<\/em>(5), 674\u2013681. https:\/\/doi.org\/10.1177\/0022034515573964<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK563694\/\">LeBlanc S, Savarirayan R. Pycnodysostosis. 2020 Nov 5 [Updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK563694\/<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":26,"template":"page_gd.php","class_list":["post-33645","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\/33645","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":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33645\/revisions"}],"predecessor-version":[{"id":127731,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33645\/revisions\/127731"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33645"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}