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\u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u30b9\u30c6\u30ed\u30a4\u30c9\u62b5\u6297\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\uff08SRNS\uff09\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u539f\u56e0\u306f<strong>\u767a\u75c7\u5e74\u9f62\u304c\u82e5\u3044\u307b\u3069\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u751f\u5f8c3\u304b\u6708\u672a\u6e80\u3067\u306f60\u301c70%\u3001\u5c0f\u5150\u671f\u5168\u4f53\u3067\u306f\u7d0430%<\/strong>\u306b\u540c\u5b9a\u3055\u308c\u308b\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u6a5f\u80fd\u7684\u306b\u3001<strong>\u2460\u30b9\u30ea\u30c3\u30c8\u819c\u69cb\u6210\u5206\u5b50\uff08<em>NPHS1<\/em>\u3001<em>NPHS2<\/em>\u3001<em>CD2AP<\/em>\uff09\u3001\u2461\u30a2\u30af\u30c1\u30f3\u7d30\u80de\u9aa8\u683c\uff08<em>ACTN4<\/em>\u3001<em>INF2<\/em>\u3001<em>MYO1E<\/em>\u3001<em>ARHGDIA<\/em>\uff09\u3001\u2462\u57fa\u5e95\u819c\uff08<em>LAMB2<\/em>\u3001<em>COL4A3-5<\/em>\uff09\u3001\u2463\u6838\u30fb\u8ee2\u5199\uff08<em>WT1<\/em>\u3001<em>NUP93<\/em>\u3001<em>NUP107<\/em>\u3001<em>LMX1B<\/em>\uff09\u3001\u2464CoQ10\u751f\u5408\u6210\uff08<em>COQ2<\/em>\u3001<em>COQ6<\/em>\u3001<em>COQ8B<\/em>\u3001<em>PDSS2<\/em>\uff09\u3001\u2465\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u30fb\u4ee3\u8b1d\uff08<em>SCARB2<\/em>\u3001<em>SGPL1<\/em>\uff09\u3001\u2466\u5185\u76ae\uff08<em>DGKE<\/em>\uff09<\/strong>\u306b\u6574\u7406\u3055\u308c\u308b\u3002<\/p>\n\n\n<p><strong>DGKE<\/strong>\uff0817q22\uff09\u306f\u30b8\u30a2\u30b7\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u03b5\u3067\u3001<strong>\u30a2\u30e9\u30ad\u30c9\u30f3\u9178\u542b\u6709\u30b8\u30a2\u30b7\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u3092\u30ea\u30f3\u9178\u5316\u3057\u3066\u5185\u76ae\u306e\u30d7\u30ed\u30c8\u30ed\u30f3\u30dc\u30c6\u30a3\u30c3\u30af\u306a\u30b7\u30b0\u30ca\u30eb\u3092\u6291\u5236\u3059\u308b<\/strong>\u3002\u672c\u75c7\u306f<strong>\u88dc\u4f53\u5236\u5fa1\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u8840\u6813\u6027\u5fae\u5c0f\u8840\u7ba1\u75c7<\/strong>\u3067\u3042\u308a\u3001<strong>\u6297C5\u6297\u4f53\uff08\u30a8\u30af\u30ea\u30ba\u30de\u30d6\uff09\u306f\u539f\u5247\u3068\u3057\u3066\u7121\u52b9<\/strong>\u3067\u3042\u308b\u70b9\u304c\u88dc\u4f53\u4ecb\u5728\u6027aHUS\u3068\u306e\u6c7a\u5b9a\u7684\u306a\u9055\u3044\u3067\u3042\u308b\u3002\u814e\u79fb\u690d\u5f8c\u306e\u518d\u767a\u7387\u306f\u4f4e\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<strong>\u4e73\u5150\u671f\u767a\u75c7\u306e\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\u3084aHUS\u3067\u306f\u3001\u9ad8\u984d\u304b\u3064\u9577\u671f\u306e\u88dc\u4f53\u963b\u5bb3\u7642\u6cd5\u3092\u958b\u59cb\u3059\u308b\u524d\u306b\u672c\u907a\u4f1d\u5b50\u3092\u78ba\u8a8d\u3059\u308b\u610f\u7fa9\u304c\u5927\u304d\u3044\u3002<\/strong><\/p>\n\n\n<p><strong>\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u6cbb\u7642\u65b9\u91dd\u306b\u76f4\u7d50\u3059\u308b\u4f8b<\/strong>\u3068\u3057\u3066\u3001CoQ10\u751f\u5408\u6210\u95a2\u9023\u907a\u4f1d\u5b50\uff08\u88dc\u5145\u7642\u6cd5\u304c\u6709\u52b9\uff09\u3001<em>DGKE<\/em>\uff08\u88dc\u4f53\u963b\u5bb3\u85ac\u304c\u7121\u52b9\uff09\u3001<em>WT1<\/em>\uff08\u6027\u817a\u82bd\u816b\u306e\u30ea\u30b9\u30af\u3068\u6027\u817a\u306e\u8a55\u4fa1\u304c\u5fc5\u8981\uff09\u3001<em>SGPL1<\/em>\uff08\u526f\u814e\u4e0d\u5168\u306e\u691c\u7d22\u304c\u5fc5\u9808\uff09\u304c\u6319\u3052\u3089\u308c\u308b\u3002<strong>\u300c\u907a\u4f1d\u6027\u3068\u5206\u304b\u308c\u3070\u514d\u75ab\u6291\u5236\u3092\u4e2d\u6b62\u3067\u304d\u308b\u300d\u3068\u3044\u3046\u70b9\u3060\u3051\u3067\u3082\u3001\u9577\u671f\u306e\u30b9\u30c6\u30ed\u30a4\u30c9\u66dd\u9732\u3092\u56de\u907f\u3059\u308b\u81e8\u5e8a\u7684\u4fa1\u5024\u306f\u5927\u304d\u3044\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30b9\u30c6\u30ed\u30a4\u30c9\u304c\u52b9\u304b\u306a\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u3092\u53d7\u3051\u308b\u3079\u304d\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u53d7\u3051\u308b\u3053\u3068\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/strong>\u56fd\u969b\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3067\u3082\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u62b5\u6297\u6027\u3068\u5224\u65ad\u3055\u308c\u305f\u6642\u70b9\u3067\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7d50\u679c\u306b\u3088\u3063\u3066\u3001\u6cbb\u7642\u3092\u7d9a\u3051\u308b\u304b\u4e2d\u6b62\u3059\u308b\u304b\u306e\u5224\u65ad\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u79fb\u690d\u3092\u3057\u305f\u3089\u3001\u307e\u305f\u518d\u767a\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\u3067\u306f\u3001\u79fb\u690d\u5f8c\u306e\u518d\u767a\u306f\u307e\u308c\u3067\u3059\u3002<\/strong>\u539f\u56e0\u306f\u814e\u81d3\u306e\u7d30\u80de\u305d\u306e\u3082\u306e\u306b\u3042\u308b\u305f\u3081\u3001\u65b0\u3057\u3044\u814e\u81d3\u3067\u306f\u540c\u3058\u3053\u3068\u304c\u8d77\u3053\u308a\u306b\u304f\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u79fb\u690d\u3092\u691c\u8a0e\u3059\u308b\u3046\u3048\u3067\u91cd\u8981\u306a\u60c5\u5831\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b66\u6821\u751f\u6d3b\u3084\u904b\u52d5\u306f\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u305f\u3093\u3071\u304f\u5c3f\u304c\u7d9a\u3044\u3066\u3044\u3066\u3082\u3001<strong>\u904e\u5ea6\u306a\u5b89\u9759\u3084\u904b\u52d5\u5236\u9650\u306f\u5fc5\u8981\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069<\/strong>\u3067\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u88dc\u4f53\u3092\u6291\u3048\u308b\u85ac\u306f\u52b9\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u306f\u88dc\u4f53\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u88dc\u4f53\u3092\u6291\u3048\u308b\u85ac\uff08\u30a8\u30af\u30ea\u30ba\u30de\u30d6\uff09\u306e\u52b9\u679c\u306f\u671f\u5f85\u3067\u304d\u307e\u305b\u3093\u3002\u8a3a\u65ad\u3092\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u4e0d\u8981\u306a\u6cbb\u7642\u3092\u907f\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<strong>\u3054\u304d\u3087\u3046\u3060\u3044\u306f\u5c3f\u691c\u67fb\u3067\u65e9\u671f\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Trautmann A, Vivarelli M, Samuel S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. <em>Pediatr Nephrol<\/em>. 2020;35(8):1529-1561.<\/li>\n\n\n\n<li>Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. <em>J Am Soc Nephrol<\/em>. 2015;26(6):1279-1289.<\/li>\n\n\n\n<li>Preston R, Stuart HM, Lennon R. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? <em>Pediatr Nephrol<\/em>. 2019;34(2):195-210.<\/li>\n\n\n\n<li>Lemaire M, Fr\u00e9meaux-Bacchi V, Schaefer F, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. <em>Nat Genet<\/em>. 2013;45(5):531-536.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136978","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\/136978","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136978\/revisions"}],"predecessor-version":[{"id":137296,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136978\/revisions\/137296"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136978"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}