{"id":33544,"date":"2022-07-11T16:13:09","date_gmt":"2022-07-11T07:13:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33544"},"modified":"2023-08-26T13:59:58","modified_gmt":"2023-08-26T04:59:58","slug":"wolman-disease-1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/wolman-disease-1\/","title":{"rendered":"Wolman Disease"},"content":{"rendered":"\n

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\u2462\u5c3f\u4e2d\u3067\u4e2d\u9593\u4ee3\u8b1d\u7523\u7269\u306e\u5897\u52a0\u304c\u751f\u5316\u5b66\u7684\u691c\u67fb\u306b\u3088\u308a\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\uff08\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u306e\u4e2d\u3067\u3082\u30b4\u30fc\u30b7\u30a7\u75c5\u306e\u3088\u3046\u306b\u3001\u5c3f\u4e2d\u306b\u4e2d\u9593\u4ee3\u8b1d\u7523\u7269\u304c\u6392\u51fa\u3055\u308c\u306a\u3044\u75be\u60a3\u3082\u3042\u308b\uff09\u3002
\u2460\u3092\u6e80\u305f\u3057\u3001\u540c\u75be\u60a3\u306b\u3088\u308b\u75c7\u72b6\u3092\u6709\u3059\u308b\u203b\u3068\u8a8d\u3081\u3089\u308c\u308b\u3082\u306e\u3092\u6307\u5b9a\u96e3\u75c5\u306e\u5bfe\u8c61\u3068\u3059\u308b\u3002\u3053\u306e\u969b\u3001\u2461\u2462\u306e\u6240\u898b\u306e\u6709\u7121\u3092\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u53c2\u8003\u3068\u3059\u308b\u3002
\u203b \u5225\u8868 19\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u3001\u81e8\u5e8a\u8abf\u67fb\u500b\u4eba\u7968\u306e\u4e3b\u8981\u6240\u898b\u3001\u691c\u67fb\u6240\u898b\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3001\u9451\u5225\u8a3a\u65ad\u3092\u53c2\u7167\u306e\u3053\u3068\u3002
 
\uff12\uff0e\u6307\u5b9a\u96e3\u75c5\u306e\u5bfe\u8c61\u7bc4\u56f2\u306b\u3064\u3044\u3066
\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u306e\u3046\u3061\u4ee5\u4e0b\u306e\u3082\u306e\u3092\u5bfe\u8c61\u3068\u3059\u308b\u3002<\/p>\n\n\n\n

(\uff11)\u30b4\u30fc\u30b7\u30a7\uff08Gaucher\uff09\u75c5<\/td>(\uff12) \u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\uff08Niemann-Pick\uff09\u75c5A\u578b\u3001B\u578b<\/td><\/tr>
(\uff13) \u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b<\/td>(\uff14) GM1\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9<\/td><\/tr>
(\uff15) GM2\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9
\u30c6\u30a4\u30fb\u30b5\u30c3\u30af\u30b9\uff08Tay-Sachs\uff09\u75c5\u3001\u30b5\u30f3\u30c9\u30db\u30d5\uff08Sandhoff\uff09\u75c5\u3001AB\u578b<\/td>		(\uff16) \u30af\u30e9\u30c3\u30d9\uff08Krabbe\uff09\u75c5<\/td><\/tr>
(\uff17) \u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>(\uff18) \u30de\u30eb\u30c1\u30d7\u30eb\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u6b20\u640d\u75c7<\/td><\/tr>
(\uff19) \u30d5\u30a1\u30fc\u30d0\u30fc\uff08Farber\uff09\u75c5<\/td>(10) \u30e0\u30b3\u591a\u7cd6\u75c7I\u578b\uff08\u30cf\u30fc\u30e9\u30fc\uff0f\u30b7\u30a7\u30a4\u30a8\uff08Hurler\/Scheie\uff09\u75c7\u5019\u7fa4\uff09<\/td><\/tr>
(11) \u30e0\u30b3\u591a\u7cd6\u75c7II\u578b\uff08\u30cf\u30f3\u30bf\u30fc\uff08Hunter\uff09\u75c7\u5019\u7fa4\uff09<\/td>(12) \u30e0\u30b3\u591a\u7cd6\u75c7III\u578b\uff08\u30b5\u30f3\u30d5\u30a3\u30ea\u30dd\uff08Sanfilippo\uff09\u75c7\u5019\u7fa4\uff09<\/td><\/tr>
(13) \u30e0\u30b3\u591a\u7cd6\u75c7IV\u578b\uff08\u30e2\u30eb\u30ad\u30aa\uff08Morquio\uff09\u75c7\u5019\u7fa4\uff09<\/td>(14) \u30e0\u30b3\u591a\u7cd6\u75c7VI\u578b\uff08\u30de\u30ed\u30c8\u30fc\u30fb\u30e9\u30df\u30fc\uff08Maroteaux-Lamy\uff09\u75c7\u5019\u7fa4\uff09<\/td><\/tr>
(15) \u30e0\u30b3\u591a\u7cd6\u75c7VII\u578b\uff08\u30b9\u30e9\u30a4\uff08Sly\uff09\u75c5\uff09<\/td>(16) \u30e0\u30b3\u591a\u7cd6\u75c7IX\u578b\uff08\u30d2\u30a2\u30eb\u30ed\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff09<\/td><\/tr>
(17) \u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9<\/td>(18) \u30ac\u30e9\u30af\u30c8\u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9<\/td><\/tr>
(19) \u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9II\u578b\u3001III\u578b<\/td>(20) \u03b1-\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9<\/td><\/tr>
(21) \u03b2-\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9<\/td>(22) \u30d5\u30b3\u30b7\u30c9\u30fc\u30b7\u30b9<\/td><\/tr>
(23) \u30a2\u30b9\u30d1\u30eb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3\u5c3f\u75c7<\/td>(24) \u30b7\u30f3\u30c9\u30e9\u30fc\uff08Schindler\uff09\u75c5\uff0f\u795e\u5d0e\u75c5<\/td><\/tr>
(25) \u30dd\u30f3\u30da\uff08Pompe\uff09\u75c5<\/td>(26) \u9178\u6027\u30ea\u30d1\u30fc\u30bc\u6b20\u640d\u75c7<\/td><\/tr>
(27) \u30c0\u30ce\u30f3\uff08Danon\uff09\u75c5<\/td>(28) \u904a\u96e2\u30b7\u30a2\u30eb\u9178\u84c4\u7a4d\u75c7<\/td><\/tr>
(29) \u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30ce\u30fc\u30b7\u30b9<\/td>(30) \u30d5\u30a1\u30d6\u30ea\u30fc\uff08Fabry\uff09\u75c5<\/td><\/tr>
(31) \u30b7\u30b9\u30c1\u30f3\u75c7<\/td> <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

 
\uff13\uff0e\u53c2\u8003\u4e8b\u9805
 \u75c7\u72b6
\u4e3b\u306a\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u306b\u306f\u7d0431\u7a2e\u985e\u306e\u75be\u60a3\u304c\u542b\u307e\u308c\u3001\u540c\u4e00\u75be\u60a3\u3067\u3082\u75c5\u578b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u7570\u306a\u308b\u3002\u4e73\u5e7c\u5150\u671f\u767a\u75c7\u306e\u3082\u306e\u304c\u5178\u578b\u7684\u3067\u3042\u308b\u304c\u3001\u6210\u4eba\u767a\u75c7\u4f8b\u306f\u5909\u6027\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u554f\u984c\u3068\u306a\u308b\u3002\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u9aa8\u5909\u5f62\u306a\u3069\u306f\u30e0\u30b3\u591a\u7cd6\u75c7\u306b\u3088\u304f\u307f\u3089\u308c\u308b\u304c\u3001GM1\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u30aa\u30ea\u30b4\u7cd6\u9396\u306e\u84c4\u7a4d\u75c7\u306b\u3082\u307f\u3089\u308c\u308b\u3002\u76ae\u819a\u75c7\u72b6\u3068\u3057\u3066\u306f\u88ab\u89d2\u8840\u7ba1\u816b\u304c\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3001\u30ac\u30e9\u30af\u30c8\u30b7\u30a2\u30ea\u30c9\u30fc\u30b7\u30b9\u3001\u30de\u30f3\u30ce\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u30b7\u30f3\u30c9\u30e9\u30fc\u75c5\uff0f\u795e\u5d0e\u75c5\u306b\u307f\u3089\u308c\u308b\u3002\u809d\u813e\u816b\u306f\u30b4\u30fc\u30b7\u30a7\u75c5\u3001\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5\u3001GM1\u30ac\u30f3\u30b0\u30ea\u30aa\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u30e0\u30b3\u591a\u7cd6\u75c7\u306a\u3069\u306b\u307f\u3089\u308c\u308b\u3002
\u795e\u7d4c\u75c7\u72b6\u306f\u4e73\u5e7c\u5150\u671f\u767a\u75c7\u4f8b\u3067\u306f\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u9000\u884c\u3001\u75d9\u6523\u3001\u75d9\u6027\u9ebb\u75fa\u306a\u3069\u304c\u307f\u3089\u308c\u3001\u6210\u4eba\u767a\u75c7\u4f8b\u3067\u306f\u8a8d\u77e5\u75c7\u3001\u7cbe\u795e\u75c7\u72b6\u3001\u75d9\u6027\u9ebb\u75fa\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30cb\u30ba\u30e0\u3001\u4e0d\u968f\u610f\u904b\u52d5\u3001\u904b\u52d5\u5931\u8abf\u3001\u795e\u7d4c\u539f\u6027\u7b4b\u840e\u7e2e\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3002
\uff1c\u91cd\u75c7\u5ea6\u5206\u985e\uff1e
Stage\uff11\u4ee5\u4e0a\u3092\u5bfe\u8c61\u3068\u3059\u308b\u3002
 
\u2460\u4e73\u5e7c\u5150\u578b<\/p>\n\n\n\n

Stage\uff11 \uff1a<\/td>\u8eab\u4f53\u7684\u7570\u5e38\u203b\uff11<\/sup>\u306f\u3042\u308b\u304c\u3001\u307b\u307c\u6708\u9f62\uff08\u5e74\u9f62\uff09\u76f8\u5f53\u306e\u6d3b\u52d5\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<\/td><\/tr>
Stage\uff12 \uff1a<\/td>\u8eab\u4f53\u7684\u7570\u5e38\u203b\uff11<\/sup>\u53c8\u306f\u904b\u52d5\uff08\u77e5\u7684\uff09\u969c\u5bb3\u306e\u305f\u3081\u6708\u9f62\uff08\u5e74\u9f62\uff09\u306b\u6bd4\u8f03\u3057\u8efd\u5ea6\u306e\u9045\u308c\u3092\u8a8d\u3081\u308b\u3002<\/td><\/tr>
Stage\uff13 \uff1a<\/td>\u8eab\u4f53\u7684\u7570\u5e38\u203b\uff11<\/sup>\u53c8\u306f\u904b\u52d5\uff08\u77e5\u7684\uff09\u969c\u5bb3\u306e\u305f\u3081\u4e2d\u7b49\u5ea6\u306e\u9045\u308c\u3092\u8a8d\u3081\u308b\u3002\uff08DQ\uff1d35\uff5e50\uff09<\/td><\/tr>
Stage\uff14 \uff1a<\/td>\u8eab\u4f53\u7684\u969c\u5bb3\u53c8\u306f\u904b\u52d5\uff08\u77e5\u7684\uff09\u969c\u5bb3\u306e\u305f\u3081\u9ad8\u5ea6\u306e\u9045\u308c\u3092\u8a8d\u3081\u308b\u3002\uff08DQ\uff1c35\uff09<\/td><\/tr>
Stage\uff15 \uff1a<\/td>\u5bdd\u305f\u304d\u308a\u3067\u547c\u5438\u30fb\u5faa\u74b0\u30fb\u809d\u30fb\u814e\u6a5f\u80fd\u4e0d\u5168\u306e\u305f\u3081\u9ad8\u5ea6\u306e\u533b\u7642\u7684\u30b1\u30a2\u30fc\u304c\u5fc5\u8981<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

\u203b\uff11  \u8eab\u4f53\u7684\u7570\u5e38\uff1a\u54fa\u4e73\u969c\u5bb3\u3001\u523a\u6fc0\u904e\u654f\u3001\u75d9\u6523\u3001\u8996\u529b\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u9aa8\u683c\u5909\u5f62\u3001\u809d\u813e\u816b\u3001\u5fc3\u4e0d\u5168\u75c7\u72b6\u3001\u814e\u4e0d\u5168\u75c7\u72b6\u306a\u3069
\u306a\u304a\u3001\u4e21\u65b9\u306e\u30a2\u30ea\u30eb\u306b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6709\u3059\u308b\u304c\u7121\u75c7\u72b6\uff08\u4f8b\uff1a\u60a3\u8005\u306e\u540c\u80de\uff09\u306a\u3082\u306e\u306f\u53c2\u8003\u57fa\u6e96\u3068\u3057\u3066\u91cd\u75c7\u5ea6\u57fa\u6e96\u306b\u306f\u542b\u3081\u306a\u3044\u3002
 
\u2461\u82e5\u5e74\u30fb\u6210\u4eba\u578b<\/p>\n\n\n\n

Stage\uff11 \uff1a<\/td>\u75c7\u72b6\u203b\uff12<\/sup>\u304c\u3042\u308b\u304c\u3001\u5c31\u52b4\uff08\u5c31\u5b66\uff09\u53ef\u80fd<\/td><\/tr>
Stage\uff12 \uff1a<\/td>\u65e5\u5e38\u751f\u6d3b\u306f\u81ea\u7acb\u3057\u3066\u3044\u308b\u304c\u3001\u5c31\u52b4\uff08\u5c31\u5b66\uff09\u4e0d\u80fd<\/td><\/tr>
Stage\uff13 \uff1a<\/td>\u65e5\u5e38\u751f\u6d3b\u4e0a\u534a\u4ecb\u52a9\u304c\u5fc5\u8981\uff08\u4e2d\u7b49\u5ea6\u969c\u5bb3\uff09<\/td><\/tr>
Stage\uff14 \uff1a<\/td>\u65e5\u5e38\u751f\u6d3b\u4e0a\u5168\u4ecb\u52a9\u304c\u5fc5\u8981\uff08\u9ad8\u5ea6\u969c\u5bb3\uff09<\/td><\/tr>
Stage\uff15 \uff1a<\/td>\u5bdd\u305f\u304d\u308a\u3067\u5438\u5f15\u7b49\u306e\u9ad8\u5ea6\u306e\u533b\u7642\u7684\u30b1\u30a2\u304c\u5fc5\u8981<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

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