{"id":33726,"date":"2022-07-12T10:21:15","date_gmt":"2022-07-12T01:21:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33726"},"modified":"2026-05-07T10:00:02","modified_gmt":"2026-05-07T01:00:02","slug":"navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/navajo-neurohepatopathy-mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome\/","title":{"rendered":"\u30ca\u30d0\u30db\u795e\u7d4c\u809d\u969c\u5bb3(MPV17\u95a2\u9023\u306e\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4)"},"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>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff08MPV17\u95a2\u9023\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3059\u308bMPV17\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u65b0\u751f\u5150\u671f\u307e\u305f\u306f\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u4e3b\u306b\u809d\u4e0d\u5168\u3084\u795e\u7d4c\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u4f4e\u8840\u7cd6\u3001\u9032\u884c\u6027\u809d\u7dda\u7dad\u5316\u304c\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u809d\u79fb\u690d\u304c\u6cbb\u7642\u9078\u629e\u80a2\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u79fb\u690d\u5f8c\u306e\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u30ea\u30b9\u30af\u3092\u614e\u91cd\u306b\u8a55\u4fa1\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u304a\u3088\u3073\u4e88\u5f8c\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>MPV17\uff5cNavajo Neurohepatopathy<\/p>\n\n\n\n<p><sup>MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff08MPV17\u95a2\u9023\u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff09\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\uff08mtDNA\uff09\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3059\u308bMPV17\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u3001\u65b0\u751f\u5150\u671f\u307e\u305f\u306f\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u4e3b\u306b\u809d\u81d3\u304a\u3088\u3073\u795e\u7d4c\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002\u91cd\u7be4\u306a\u809d\u4e0d\u5168\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308b\u3002\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u809d\u79fb\u690d\u304c\u6709\u52b9\u3068\u3055\u308c\u3066\u3044\u308b\u3002\u306a\u304a\u3001\u809d\u79fb\u690d\u5f8c\u306e\u9577\u671f\u4e88\u5f8c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u75c7\u7387\u306e\u6b63\u78ba\u306a\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u3002\u3057\u304b\u3057\u3001\u5c0f\u5150\u671f\u306e\u6025\u6027\u809d\u4e0d\u5168\u306e\u539f\u56e0\u306e\u7d0420%\u304c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u308b\u5831\u544a\u304c\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u4e3b\u306b\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u809d\u4e0d\u5168\u306e\u9032\u884c\u306b\u3088\u308a\u9ad8\u3044\u6b7b\u4ea1\u7387\u3092\u793a\u3059\u3002\u809d\u8133\u578b\u306e\u60a3\u8005\u3067\u306f\u3001\u809d\u969c\u5bb3\u3068\u3068\u3082\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u304c\u300125%\u306e\u60a3\u8005\u306f\u809d\u969c\u5bb3\u306e\u307f\u3092\u5448\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u308b\u3002\u767a\u75c7\u5e74\u9f62\u3084\u9032\u884c\u901f\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u4f8b\u3082\u5831\u544a\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>MPV17\u907a\u4f1d\u5b50\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5b58\u5728\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3002MPV17\u306e\u5909\u7570\u306b\u3088\u308a\u3001mtDNA\u306e\u8907\u88fd\u3068\u7dad\u6301\u304c\u969c\u5bb3\u3055\u308c\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\uff08MDS\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002MDS\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u4e3b\u306b\u809d\u81d3\u3001\u795e\u7d4c\u3001\u7b4b\u8089\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002MPV17\u95a2\u9023MDS\u306e\u75c5\u614b\u306b\u306f\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u4f4e\u8840\u7cd6\u3001\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u3001\u9032\u884c\u6027\u809d\u7dda\u7dad\u5316\u3001\u795e\u7d4c\u5909\u6027\u304c\u542b\u307e\u308c\u308b\u3002MPV17\u5909\u7570\u306e\u3046\u3061\u3001c.293C&gt;T\uff08p.P98I\uff09\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306f\u751f\u5b58\u7387\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u4e3b\u306b\u809d\u81d3\u304a\u3088\u3073\u795e\u7d4c\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u809d\u75c7\u72b6<\/strong>\uff1a\u80c6\u6c41\u3046\u3063\u6ede\u3001\u809d\u816b\u5927\u3001\u809d\u7dda\u7dad\u5316\u3001\u9032\u884c\u6027\u809d\u786c\u5909\u3001\u6025\u6027\u307e\u305f\u306f\u6162\u6027\u809d\u4e0d\u5168<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6<\/strong>\uff08\u809d\u8133\u578b\u306e\u5834\u5408\uff09\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u611f\u899a\u7570\u5e38\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u904b\u52d5\u7570\u5e38\u3001\u5c0f\u982d\u75c7\u3001\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7570\u5e38<\/strong>\uff1a\u9ad8\u4e73\u9178\u8840\u75c7\u3001\u4f4e\u8840\u7cd6\u3001\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u75c7\u72b6<\/strong>\uff1a\u6210\u9577\u969c\u5bb3\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u5614\u5410\u3001\u56a5\u4e0b\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n<p>\u809d\u4e0d\u5168\u304c\u9032\u884c\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u4e88\u5f8c\u304c\u4e0d\u826f\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u591a\u9762\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>\uff1a\u8840\u6e05\u4e73\u9178\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u3001\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3001\u8840\u7cd6\u5024\u306e\u6e2c\u5b9a<\/li>\n\n\n\n<li><strong>\u809d\u6a5f\u80fd\u691c\u67fb<\/strong>\uff1a\u30c8\u30e9\u30f3\u30b9\u30a2\u30df\u30ca\u30fc\u30bc\uff08AST, ALT\uff09\u3001\u80c6\u6c41\u3046\u3063\u6ede\u30de\u30fc\u30ab\u30fc\uff08\u30d3\u30ea\u30eb\u30d3\u30f3\u3001\u30a2\u30eb\u30ab\u30ea\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u3001\u30a2\u30eb\u30d6\u30df\u30f3\u3001\u51dd\u56fa\u56e0\u5b50\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u8a3a\u65ad<\/strong>\uff1a\u8179\u90e8\u8d85\u97f3\u6ce2\u3001MRI\u306b\u3088\u308b\u809d\u7dda\u7dad\u5316\u3084\u840e\u7e2e\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08NGS\uff09\u3092\u7528\u3044\u305fMPV17\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/li>\n\n\n\n<li><strong>\u7d44\u7e54\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u809d\u751f\u691c\u306b\u3088\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7570\u5e38\u306e\u78ba\u8a8d\uff08\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u306e\u7570\u5e38\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u89b3\u5bdf\uff09<\/li>\n<\/ol>\n\n\n\n<p>MPV17\u907a\u4f1d\u5b50\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u672c\u75be\u60a3\u3068\u8a3a\u65ad\u3055\u308c\u308b\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<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306b\u306f\u6839\u6cbb\u7642\u6cd5\u304c\u5b58\u5728\u3057\u306a\u3044\u305f\u3081\u3001\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u7642\u6cd5<\/strong>\uff1a\u4e2d\u9396\u8102\u80aa\u9178\uff08MCT\uff09\u3092\u542b\u3080\u98df\u4e8b\u3001\u30d3\u30bf\u30df\u30f3\u30fb\u88dc\u9175\u7d20\uff08\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u30ea\u30dc\u30d5\u30e9\u30d3\u30f3\uff09\u88dc\u5145<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6\u7ba1\u7406<\/strong>\uff1a\u983b\u56de\u306e\u98df\u4e8b\u3001\u7d4c\u53e3\u30c7\u30f3\u30d7\u30f3\u6442\u53d6\u3001\u7d4c\u7ba1\u6804\u990a\u306e\u5c0e\u5165<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a\u809d\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u305f\u60a3\u8005\u3067\u306f\u3001\u809d\u79fb\u690d\u304c\u9069\u5fdc\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u79fb\u690d\u5f8c\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u9069\u5fdc\u5224\u65ad\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\uff1a\u611f\u67d3\u304c\u809d\u6a5f\u80fd\u306e\u60aa\u5316\u3092\u62db\u304f\u305f\u3081\u3001\u611f\u67d3\u4e88\u9632\u7b56\u3092\u5fb9\u5e95\u3059\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u809d\u79fb\u690d\u306e\u4e88\u5f8c\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3057\u306a\u3044\u5834\u5408\u306f\u6709\u671b\u306a\u6cbb\u7642\u9078\u629e\u80a2\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>MPV17\u95a2\u9023\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u306b\u4e0d\u826f\u3067\u3042\u308a\u3001\u7279\u306b\u809d\u4e0d\u5168\u3092\u4f34\u3046\u5834\u5408\u306b\u306f\u5e7c\u5c11\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002\u809d\u79fb\u690d\u3092\u53d7\u3051\u305f\u60a3\u8005\u306e1\u5e74\u751f\u5b58\u7387\u306f69.5%\u30015\u5e74\u751f\u5b58\u7387\u306f38.6%\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u79fb\u690d\u5f8c\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u809d\u75c7\u72b6\u306e\u307f\u306e\u60a3\u8005<\/strong>\uff1a\u809d\u79fb\u690d\u306b\u3088\u308a\u9577\u671f\u751f\u5b58\u304c\u671f\u5f85\u3055\u308c\u308b\uff08\u751f\u5b58\u738783.3%\uff09<\/li>\n\n\n\n<li><strong>\u809d\u8133\u578b\u306e\u60a3\u8005<\/strong>\uff1a\u79fb\u690d\u5f8c\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\uff08\u751f\u5b58\u738744.4%\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u73fe\u5728\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u88dc\u5145\u7642\u6cd5\u304c\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u671f\u5f85\u3055\u308c\u3066\u3044\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:\/\/doi.org\/10.1007\/s12664-022-01281-0\">Samanta, A., Srivastava, A., Mandal, K. <em>et al.<\/em> MPV17 mutation\u2013related mitochondrial DNA depletion syndrome: A case series in infants. <em>Indian J Gastroenterol<\/em> <strong>42<\/strong>, 569\u2013574 (2023). https:\/\/doi.org\/10.1007\/s12664-022-01281-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/petr.14274\">Huang, A. C., Ebel, N. H., Romero, D., Martin, B., Jhun, I., Brown, M., Enns, G. M., Esquivel, C., &amp; Bonham, C. (2022). Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single\u2010center case series. <em>Pediatric Transplantation<\/em>, <em>26<\/em>(5), e14274. https:\/\/doi.org\/10.1111\/petr.14274<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/aasldpubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cld.1133\">Alharbi, H., Priestley, J. R., Wilkins, B. J., &amp; Ganetzky, R. D. (2021). Mitochondrial hepatopathies. <em>Clinical Liver Disease<\/em>, <em>18<\/em>(5), 243-250.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fsurg.2024.1348806\">Wei, L.-Y., Chen, X.-Q., Huang, L., Shan, Q.-W., &amp; Tang, Q. (2024). Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: A case report and literature review. <em>Frontiers in Surgery<\/em>, <em>11<\/em>, 1348806. https:\/\/doi.org\/10.3389\/fsurg.2024.1348806<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/B978-0-323-99209-1.00004-1\">Pizzamiglio, C., Hanna, M. G., &amp; Pitceathly, R. D. S. (2024). Primary mitochondrial diseases. In <em>Handbook of Clinical Neurology<\/em> (Vol. 204, pp. 53\u201376). Elsevier. https:\/\/doi.org\/10.1016\/B978-0-323-99209-1.00004-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/brainsci14020135\">Ali, A., Esmaeil, A., &amp; Behbehani, R. (2024). Mitochondrial chronic progressive external ophthalmoplegia. <em>Brain Sciences<\/em>, <em>14<\/em>(2), 135. https:\/\/doi.org\/10.3390\/brainsci14020135<\/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>MPV17, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4, \u809d\u8133\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5, \u809d\u4e0d\u5168, \u4f4e\u8840\u7cd6, \u9ad8\u4e73\u9178\u8840\u75c7, \u80c6\u6c41\u3046\u3063\u6ede, \u907a\u4f1d\u6027\u75be\u60a3, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5, \u809d\u79fb\u690d, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u7570\u5e38, \u4e73\u5150\u809d\u4e0d\u5168<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33726","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\/33726","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33726\/revisions"}],"predecessor-version":[{"id":128011,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33726\/revisions\/128011"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33726"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}