{"id":146474,"date":"2024-01-05T07:56:52","date_gmt":"2024-01-05T07:56:52","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%eb%93%80%ec%84%bc-%ea%b7%bc%ec%9c%a1-%ec%9d%b4%ec%98%81%ec%96%91%ec%a6%9d%ec%97%90-%eb%8c%80%ed%95%9c-%eb%8c%80%eb%a7%8c%ec%9d%98-%ec%8b%a0%ec%83%9d%ec%95%84-%ec%84%a0%eb%b3%84-%ec%8b%ac%ec%82%ac\/"},"modified":"2026-02-25T09:23:43","modified_gmt":"2026-02-25T09:23:43","slug":"how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ko\/disease-area\/newborn-screening\/how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy\/","title":{"rendered":"\ub4c0\uc13c \uadfc\uc721 \uc774\uc601\uc591\uc99d\uc5d0 \ub300\ud55c \ub300\ub9cc\uc758 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac \ubc29\ubc95"},"content":{"rendered":"

\ub300\ub9cc\uc740 \uc8fc\ub85c \uc18c\ub144\uc5d0\uac8c \uc601\ud5a5\uc744 \ubbf8\uce58\ub294 \uc2ec\uac01\ud55c \uc720\uc804\ubcd1\uc778 \ub4c0\uc13c \uadfc\uc721 \uc774\uc601\uc591\uc99d(DMD)\uc5d0 \ub300\ud55c \ub300\ubd80\ubd84\uc758 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac\ub97c \uc815\uae30\uc801\uc73c\ub85c \ud558\ub294 \uc804 \uc138\uacc4 \uc18c\uc218\uc758 \uad6d\uac00 \ubc0f \uc9c0\uc5ed \uc911 \ud558\ub098\uc785\ub2c8\ub2e4. \uadf8\ub7ec\ub098 DMD\uc5d0 \ub300\ud55c \uacfc\ud559\uc801 \uc774\ud574\uc640 \uce58\ub8cc\uc758 \uc9c0\uc18d\uc801\uc778 \ubc1c\uc804 \uc18d\uc5d0\uc11c \ub354 \ub9ce\uc740 \uad6d\uac00\uac00 \uac00\uae4c\uc6b4 \uc7a5\ub798\uc5d0 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac(NBS) \ud328\ub110\uc5d0 \uc774 \uc870\uac74\uc744 \ucd94\uac00\ud558\ub294 \uac83\uc744 \uace0\ub824\ud560 \uac00\ub2a5\uc131\uc774 \ub192\uc2b5\ub2c8\ub2e4.<\/p>\n

DMD\ub294 \uc9c4\ud589\uc131 \uadfc\uc721 \uae30\ub2a5 \uc0c1\uc2e4\uacfc \uc870\uae30 \uc0ac\ub9dd\uc744 \uc720\ubc1c\ud558\ub294 \uae4c\ub2e4\ub85c\uc6b4 \uc9c8\ubcd1\uc785\ub2c8\ub2e4. DMD\ub97c \uac00\uc9c4 \ub300\ubd80\ubd84\uc758 \uc18c\ub144\uc740 \ucd9c\uc0dd \uc2dc\uc5d0\ub294 \ubd84\uba85\ud788 \uac74\uac15\ud558\uba70, \uc720\ub144\uae30 \ucd08\uae30\uc5d0 \ud2b9\ud788 \uadfc\ub825 \uc57d\ud654\uc640 \uc6b4\ub3d9 \uae30\uc220 \uc5b4\ub824\uc6c0\uacfc \uac19\uc740 \uc0c1\ud0dc\uc758 \uc9d5\ud6c4\ub97c \ubcf4\uc774\uae30 \uc2dc\uc791\ud560 \uac83\uc785\ub2c8\ub2e4. \uc77c\ubc18\uc801\uc73c\ub85c \ub290\ub9ac\uace0 \ubbf8\ubb18\ud55c \ubc1c\ubcd1\uc744 \uac10\uc548\ud560 \ub54c, \uc9c4\ub2e8\uc758 \uc5ec\uc815\uc740 \uac04\ubcd1\uc778\uc5d0\uac8c \uae38\uace0 \ube44\uc6a9\uc774 \ub9ce\uc774 \ub4e4\uba70 \uac10\uc815\uc801\uc73c\ub85c \uc5b4\ub824\uc6b8 \uc218 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

NBS \ud328\ub110\uc5d0 DMD\ub97c \ucd94\uac00\ud558\uba74\uc11c \uc77c\ubd80\uc5d0\uc11c\ub294 \uc0c1\ud0dc\ub97c \uc870\uae30\uc5d0 \ubc1c\uacac\ud558\uba74 \uc9c4\ub2e8 \uc5ec\uc815\uc774 \uc5f0\uc7a5\ub418\uace0 \uc0ac\uc804 \uce58\ub8cc\uac00 \uac00\ub2a5\ud558\uba70 \ud658\uc790\uc640 \uac04\ubcd1\uc778\uc758 \uacb0\uacfc\ub97c \uac1c\uc120\ud560 \uc218 \uc788\ub294 \ubcf5\uc7a1\ud55c \uc0dd\ud65c \uacc4\ud68d \uacb0\uc815\uc5d0 \ub354 \ub9ce\uc740 \uc2dc\uac04\uc744 \uc81c\uacf5\ud560 \uc218 \uc788\uae30\ub97c \ud76c\ub9dd\ud569\ub2c8\ub2e4. \ubbf8\uad6d \uae30\ubc18\uc758 \uc5f0\uad6c \ubc0f \uc9c0\uc6d0 \uadf8\ub8f9\uc778 EveryLife Foundation for Rare Diseases\uc758 \ucd5c\uadfc \uc5f0\uad6c\uc5d0 \ub530\ub974\uba74 \uc870\uae30 \uc9c4\ub2e8\uc740 \uc758\ub8cc \uc2dc\uc2a4\ud15c\uc5d0\ub3c4 \uc0c1\ub2f9\ud55c \ube44\uc6a9 \uc808\uac10\uc744 \ucd08\ub798\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4 [1].<\/p>\n

DMD\uc5d0 \ub300\ud55c NBS\uc758 \uc2e4\uc6a9\uc801\uc778 \uace0\ub824 \uc0ac\ud56d\uacfc \uc7a0\uc7ac\uc801 \uc774\uc810\uc744 \ub354 \uc798 \uc774\ud574\ud558\uae30 \uc704\ud574 Lab Insights\ub294 \ud604\uc7ac National Taiwan University Hospital(NTUH)\uc758 Newborn Screening Centre\ub97c \uc774\ub04c\uace0 \uc788\ub294 \uc18c\uc544\uacfc \uc758\uc0ac \ubc0f \uc758\ub8cc \uc720\uc804\ud559\uc790\uc778 Yin-Hsiu Chien \ubc15\uc0ac\uc640 \uc774\uc57c\uae30\ub97c \ub098\ub204\uc5c8\uc2b5\ub2c8\ub2e4. \uadf8\ub140\ub294 NTUH\uc5d0\uc11c DMD\ub97c\uc704\ud55c NBS\uc758 \ud30c\uc77c\ub7ff\uc744 \uc774\ub044\ub294 \uac83\uc5d0 \ub354\ud574 \uadf8 \ubc29\ubc95\uacfc \uacb0\uacfc\ub97c \uc124\uba85\ud55c \uc800\ub110 \uae30\uc0ac\uc758 \uc218\uc11d \uc800\uc790\uc785\ub2c8\ub2e4 [2].<\/p>\n

DMD\uc6a9 DMD \uc120\ubcc4 \uc2ec\uc0ac \ud30c\uc77c\ub7ff \uc2dc\uc791<\/h2>\n

NBS\ub294 2021\ub144 2\uc6d4 \ub300\ub9cc\uc5d0 \uc788\ub294 3\uac1c\uc758 \uc8fc\uc694 \uacf5\uacf5 \ubd80\ubb38 NBS \uc13c\ud130 \uc911 \ud558\ub098\ub97c \uc6b4\uc601\ud558\ub294 NTUH\uc5d0\uc11c \ucc98\uc74c \uc2dc\ubc94 \uc6b4\uc601\ub418\uc5c8\uc2b5\ub2c8\ub2e4. \ub530\ub77c\uc11c NTUH\uc758 Chien \ubc15\uc0ac\uc640 \ub3d9\ub8cc\ub4e4\uc740 DMD \uc120\ubcc4 \uc2ec\uc0ac\uc758 \uc7a0\uc7ac\uc801 \uc774\uc810\uc744 \uc778\uc815\ud55c \uccab \ubc88\uc9f8 \uc0ac\ub840\uc600\uc2b5\ub2c8\ub2e4.<\/p>\n

Chien \ubc15\uc0ac\ub294 \ub9d0\ud569\ub2c8\ub2e4. “\uc6b0\ub9ac\ub294 \uba87 \uac00\uc9c0 \uc774\uc720\ub85c DMD \uc120\ubcc4 \uc2ec\uc0ac\uac00 \uc911\uc694\ud558\ub2e4\uace0 \ubcf4\uc558\uc2b5\ub2c8\ub2e4.” “\uc0b4\uc544 \uc788\ub294 \ub0a8\uc131\uc774 5,000\uba85 \ucd9c\uc0dd\ud560 \ub54c\ub9c8\ub2e4 \uc57d 1\uba85\uc5d0\uac8c \uc601\ud5a5\uc744 \ubbf8\uce58\ubbc0\ub85c \ub2e4\ub978 \ud76c\uadc0 \uc720\uc804 \uc9c8\ud658\uc5d0 \ube44\ud574 \uc720\ubcd1\ub960\uc774 \uc0c1\ub300\uc801\uc73c\ub85c \ub192\uc2b5\ub2c8\ub2e4. X-\uc5f0\uad00 \uc9c8\ud658\uc774\uae30\ub3c4 \ud558\uba70, \uc7ac\ubc1c\uc758 \uc704\ud5d8\uc131\uc744 \uac10\uc548\ud560 \ub54c \uc870\uae30 \ubc1c\uacac\uc740 \ubd80\ubaa8\uc758 \uc0dd\uc2dd \uacc4\ud68d\uc5d0\ub3c4 \ub3c4\uc6c0\uc774 \ub420 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \ub9c8\uc9c0\ub9c9\uc73c\ub85c \uac00\uc7a5 \uc911\uc694\ud55c \uac83\uc740 \ub9ce\uc740 \uc720\ub9dd\ud55c \uce58\ub8cc\ubc95\uc774 \uac1c\ubc1c \uc911\uc774\uba70 \uc870\uae30 \uac1c\uc785\uc774 \ub354 \ub098\uc740 \uc608\ud6c4\ub85c \uc774\uc5b4\uc9c8 \uac00\ub2a5\uc131\uc774 \uc788\uc74c\uc744 \uc54c\uace0 \uc788\uc2b5\ub2c8\ub2e4.”<\/p>\n

Chien \ubc15\uc0ac\ub294 \ub610\ud55c NTUH\uac00 \ud30c\uc77c\ub7ff\uc744 \ucd9c\uc2dc\ud588\uc744 \ub54c DMD \uc120\ubcc4 \uc2ec\uc0ac\ub97c \uc704\ud55c FDA \uc2b9\uc778 IVD \ud0a4\ud2b8\ub97c \uc0ac\uc6a9\ud560 \uc218 \uc788\uc5c8\uc73c\ubbc0\ub85c \ub2e4\ub978 \uad6d\uac00 \ubc0f \uc9c0\uc5ed\uc758 \uc774\uc804 \uc5f0\uad6c\ubcf4\ub2e4 \ub354 \ube68\ub9ac \uc2dc\uc791\ud560 \uc218 \uc788\ub2e4\uace0 \uc9c0\uc801\ud569\ub2c8\ub2e4. 2022\ub144 5\uc6d4\uc5d0 \ucc98\uc74c 50,572\uba85\uc758 \uc2e0\uc0dd\uc544\ub97c \ub300\uc0c1\uc73c\ub85c \ud558\uace0 3\uba85\uc758 DMD \ud655\uc9c4 \uc0ac\ub840\ub97c \ud655\uc778\ud55c \ud30c\uc77c\ub7ff \uacb0\uacfc\uac00 \ubc1c\ud45c\ub418\uc5c8\uc2b5\ub2c8\ub2e4. \uc774\ud6c4 \ub300\ub9cc\uc758 \ub2e4\ub978 \ub450 NBS \uc120\ubcc4 \uc13c\ud130\uc5d0\uc11c\ub3c4 DMD \uc120\ubcc4 \uc2ec\uc0ac\ub97c \ucc44\ud0dd\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc624\ub298\ub0a0 DMD \uc120\ubcc4 \uc2ec\uc0ac\ub294 \uc815\ubd80 \uc9c0\uc6d0 \ud45c\uc900 \ud328\ub110 \uc704\uc5d0 \uc704\uce58\ud558\uba70 \ubd80\ubaa8\ub85c\ubd80\ud130 \uc790\ube44 \uc9c0\ubd88\uc744 \uc694\uad6c\ud558\ub294 ‘\ud655\uc7a5 \ud328\ub110’\uc758 \uc77c\ubd80\ub85c \ub300\ub9cc\uc758 \uc2e0\uc0dd\uc544\uc5d0\uac8c \uc81c\uacf5\ub429\ub2c8\ub2e4. \ub300\ub9cc \ubd80\ubaa8\uc758 90% \uc774\uc0c1\uc774 \ud655\uc7a5 \ud328\ub110\uc744 \uc120\ud0dd\ud558\ubbc0\ub85c \ub300\ub2e4\uc218\uc758 \ub300\ub9cc \uc2e0\uc0dd\uc544\ub294 \uc774\uc81c \ucd9c\uc0dd \uc2dc\u00a0DMD \uac80\uc0ac\ub97c \ubc1b\uc2b5\ub2c8\ub2e4(\ub300\ub9cc\uc758 NBS \uc2dc\uc2a4\ud15c\uc774 \uc5b4\ub5bb\uac8c \uad6c\uc131\ub418\uc5b4 \uc788\ub294\uc9c0\uc5d0 \ub300\ud55c \uc790\uc138\ud55c \ub0b4\uc6a9\uc740 \uc774\uc804\uc5d0 Lab Insights\uc758 Chien \ubc15\uc0ac\uc640 \ud568\uaed8\ud55c Q&A \ucc38\uc870<\/a>).<\/p>\n

\ub300\ub9cc\uc5d0\uc11c DMD \uc120\ubcc4 \uc2ec\uc0ac\uac00 \uc774\ub8e8\uc5b4\uc9c0\ub294 \ubc29\uc2dd<\/h2>\n

DMD\uc5d0 \ub300\ud55c \uc0dd\ud654\ud559\uc801 \uc2a4\ud06c\ub9ac\ub2dd\uc740 \uc774 \uc9c8\ud658\uc774 \uc788\ub294 \ud658\uc790\uc758 \ucd9c\uc0dd \uc2dc \uc77c\ubc18\uc801\uc73c\ub85c \uc0c1\uc2b9\ud558\ub294 \uadfc\uc721 \uc190\uc0c1 \ud45c\uc9c0\uc790\uc778 \ud06c\ub808\uc544\ud2f4 \ud65c\uc131 \ud6a8\uc18c(CK-MM)\ub97c \uce21\uc815\ud569\ub2c8\ub2e4. \ucd08\uae30 \uc0d8\ud50c\uc740 \ub2e4\ub978 NBS \ud14c\uc2a4\ud2b8\uc5d0 \uc0ac\uc6a9\ub418\ub294 \ub3d9\uc77c\ud55c \uac74\uc870\ub41c \ud608\ubc18(DBS) \uc0d8\ud50c\uc5d0\uc11c \ucc44\ucde8\ud558\uba70, \ud6c4\uc18d \uc0d8\ud50c\uc740 \ucd94\uac00 \ucc44\ud608\uc774 \ud544\uc694\ud569\ub2c8\ub2e4.<\/p>\n

NTUH \ud30c\uc77c\ub7ff\uc5d0\uc11c Chien \ubc15\uc0ac\uc640 \ub3d9\ub8cc\ub4e4\uc740 \ucd9c\uc0dd \ud6c4 \uba70\uce60 \uc774\ub0b4\uc5d0 CK-MM\uc744 \uce21\uc815\ud558\ub294 \uac83\uc73c\ub85c \uc2dc\uc791\ud558\ub294 \ub2e4\ub2e8\uacc4 \ud504\ub85c\ud1a0\ucf5c\uc744 \uacb0\uc815\ud588\uc2b5\ub2c8\ub2e4. \ub9cc\uc0ad\uc544\uc758 \uacbd\uc6b0 750ng\/mL \uc774\uc0c1, \ubbf8\uc219\uc544\uc758 \uacbd\uc6b0 650ng\/mL \uc774\uc0c1\uc778 CK-MM \ubc94\uc704 \uc911 \uc0c1\uc704 1%\uc5d0 \uc18d\ud558\ub294 \uc601\uc544\ub4e4\uc744 \uc7ac\uac80\uc0ac \ub300\uc0c1\uc73c\ub85c \ud50c\ub798\uadf8 \uc9c0\uc815\ud588\uc2b5\ub2c8\ub2e4. \uc911\uad6d\uc758 \uc774\uc804 \uc5f0\uad6c\ub97c \ucc38\uc870\ud558\uc5ec \uacb0\uc815\ub41c \uc774 \ucef7\uc624\ud504 \ubc94\uc704\ub294 \uc704\uc591\uc131\uc744 \uc81c\ud55c\ud558\uc9c0\ub9cc \uc9c4\uc591\uc131\uc744 \uc783\uc9c0 \uc54a\ub3c4\ub85d \uc124\uacc4\ub418\uc5c8\uc2b5\ub2c8\ub2e4.<\/p>\n

\uadf8\ub7f0 \ub2e4\uc74c \uc0c1\uc704 1%\uc758 \uc544\uae30\ub4e4\uc744 2\uc8fc\uc5d0 \uc7ac\uac80\uc0ac\ud558\uace0, CK-MM \uac12\uc774 300ng\/mL \uc774\uc0c1\uc778 \uc544\uae30\ub4e4\uc744 \uc138 \ubc88\uc9f8\ub85c \uc7ac\uac80\uc0ac\ud588\uc2b5\ub2c8\ub2e4. \uadf8\ub4e4\uc740 \ub610\ud55c \ucd94\uac00 \uc704\ud5d8 \uc694\uc18c\ub97c \ud3c9\uac00\ud558\uae30 \uc704\ud574 \uac00\uc871\ub825\uc744 \uac80\uc0ac\ud588\uc73c\uba70 DMD \ubc0f \uae30\ud0c0 \uc2e0\uacbd\uadfc \uc0c1\ud0dc\ub97c \ub2e4\ub8e8\ub294 \ucc28\uc138\ub300 \uc5fc\uae30 \uc11c\uc5f4 \uacb0\uc815(NGS) \ud328\ub110\uc744 \ud1b5\ud574 \ucd94\uac00 \uac80\uc0ac\ub97c \ubc1b\uc558\uc2b5\ub2c8\ub2e4(NGS \uac80\uc0ac\ub294 \ucd9c\uc0dd \uc2dc \uc218\uc9d1 \ub41c \ub3d9\uc77c\ud55c \uac74\uc870 \ud608\ubc18 \uc0d8\ud50c\uc5d0\uc11c \uc218\ud589\ub428).<\/p>\n

\ub300\uccb4 \ud504\ub85c\ud1a0\ucf5c \ud0d0\uc0c9<\/h2>\n

CK-MM\uc758 \ud55c \uac00\uc9c0 \uacfc\uc81c\ub294 \uc774\uac83\uc774 DMD\uc5d0 \ub300\ud55c \uace0\ub3c4\ub85c \ud2b9\uc774\uc801\uc778 \ud45c\uc9c0\uc790\uac00 \uc544\ub2c8\ub77c\ub294 \uac83\uc785\ub2c8\ub2e4. \uc0c1\uc2b9\ub41c CK-MM\uc740 \ub610\ud55c \ucd9c\uc0dd \uc678\uc0c1 \ub610\ub294 \ub2e4\ub978 \uc0c1\ud669\uc5d0 \uc758\ud574 \uc720\ubc1c\ub420 \uc218 \uc788\uc73c\ubbc0\ub85c \uc2e0\uc0dd\uc544 \ub9e5\ub77d\uc5d0\uc11c \ucd08\uae30 \uc120\ubcc4 \uc2ec\uc0ac\ub294 \uc885\uc885 \ub192\uc740 \uc704\uc591\uc131\ub960\uc744 \uc0b0\ucd9c\ud560 \uac83\uc785\ub2c8\ub2e4. \ub530\ub77c\uc11c \uac80\uc0ac \uc815\ud655\ub3c4\ub97c \uac1c\uc120\ud558\uae30 \uc704\ud574 \ub2e4\uc591\ud55c \uc5f0\uad6c\ub4e4\uc5d0\uc11c \ub300\uccb4 \ud504\ub85c\ud1a0\ucf5c\uc744 \uace0\ub824\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc77c\ubd80 \uc5f0\uad6c\uc5d0\uc11c\ub294 CK-MM \uc7ac\uac80\uc0ac\ub97c \uc704\ud574 \uc11c\ub85c \ub2e4\ub978 \ucef7\uc624\ud504 \uc5ed\uce58\ub97c \uc120\ud0dd\ud588\uc2b5\ub2c8\ub2e4. “\uc774\uc804 \uc5f0\uad6c\uc5d0 \ub530\ub974\uba74 DMD\uc758 CK-MM\uc740 \uc77c\ubc18\uc801\uc73c\ub85c \uc2e0\uc0dd\uc544\uc5d0\uc11c 1,000ng\/mL \uc774\uc0c1\uc778 \ubc18\uba74 \uc77c\uc2dc\uc801\uc778 \uc0c1\uc2b9\uc740 400-500ng\/mL \ubc94\uc704\uc5d0 \uc788\uc744 \uac00\ub2a5\uc131\uc774 \ub354 \ub192\uc2b5\ub2c8\ub2e4”\ub77c\uace0 Chien \ubc15\uc0ac\uac00 \uad00\ucc30\ud55c \ubc14\ub97c \uc124\uba85\ud569\ub2c8\ub2e4. “\uadf8\ub7ec\ub098 \ubd84\ub9ac\uac00 \uc81c\ub300\ub85c \uc774\ub8e8\uc5b4\uc84c\uc74c\uc5d0\ub3c4 \ubd88\uad6c\ud558\uace0, \uc6b0\ub9ac\ub294 \uc704\uc74c\uc131\uc758 \uc704\ud5d8\uc744 \uc81c\ud55c\ud558\uae30\ub97c \uc6d0\ud588\uae30 \ub54c\ubb38\uc5d0 \uc0c1\uc704 1%\ub97c \ub2e4\uc2dc \uc120\ubcc4\ud588\uc2b5\ub2c8\ub2e4.”<\/p>\n

\ub610\ud55c \uae30\uc220\uc801\uc73c\ub85c NGS\ub97c \uc2e0\uacbd\uadfc \ud328\ub110 \ub610\ub294 \uc804\uccb4 \uc5d1\uc19c \ub610\ub294 \uac8c\ub188 \ud14c\uc2a4\ud2b8\ub97c \ud3ec\ud568\ud558\uc5ec 2\ucc28 \ub610\ub294 1\ucc28 \ud14c\uc2a4\ud2b8\ub85c \uc0ac\uc6a9\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \uc774\uac83\uc740 \ub450 \ubc88\uc9f8 CK-MM \uc120\ubcc4 \uc2ec\uc0ac\ub97c \uc704\ud574 \ub2e4\uc2dc \ucc3e\uc544\uc62c \uc218 \uc5c6\ub294 \ubd80\ubaa8\uc5d0\uac8c \ud2b9\ud788 \ub3c4\uc6c0\uc774 \ub420 \uac83\uc774\uc9c0\ub9cc \ucd1d \uc120\ubcc4 \uc2ec\uc0ac \ube44\uc6a9\ub3c4 \uc99d\uac00\ud569\ub2c8\ub2e4. Chien \ubc15\uc0ac\ub294 \ub610 \uc774\ub807\uac8c \ub9d0\ud569\ub2c8\ub2e4. “\uc6b0\ub9ac\ub294 \uc5ec\uc804\ud788 \ubaa8\ub4e0 \uc720\uc804\uc801 \ubcc0\uc774\ub97c \uc774\ud574\ud558\uc9c0 \ubabb\ud558\uae30 \ub54c\ubb38\uc5d0 CK-MM\uc744 \ud1b5\ud55c \uc0dd\ud654\ud559\uc801 \uac80\uc0ac\ub97c \ubcd1\ud589\ud574\uc57c \ud55c\ub2e4\uace0 \uc0dd\uac01\ud569\ub2c8\ub2e4.”<\/p>\n

\ubd80\ubaa8\uc5d0\uac8c \uacb0\uacfc \uc124\uba85<\/h2>\n

\uc2e0\uc0dd\uc544 DMD \uc120\ubcc4 \uc2ec\uc0ac\uc758 \ub610 \ub2e4\ub978 \uc5b4\ub824\uc6b4 \uce21\uba74\uc740 \ubd80\ubaa8\uc5d0\uac8c \uacb0\uacfc\ub97c \uc124\uba85\ud558\ub294 \uac83\uc785\ub2c8\ub2e4. \uc2e0\uc0dd\uc544\uc758 CK-MM \uac12\uc774 \uc0c1\uc704 1%\uc5d0 \uc18d\ud558\ub294 \ubd80\ubaa8\uc758 \uacbd\uc6b0, \uacfc\ub3c4\ud55c \uacbd\ubcf4\ub97c \uc57c\uae30\ud558\uc9c0 \uc54a\uace0 \uc7ac\uc120\ubcc4 \uc2ec\uc0ac\uc758 \uc911\uc694\uc131\uacfc \ubaa9\uc801\uc744 \uc774\ud574\ud560 \uc218 \uc788\ub3c4\ub85d \ud558\ub294 \uac83\uc774 \uc911\uc694\ud569\ub2c8\ub2e4.<\/p>\n

Chien \ubc15\uc0ac\ub294 \ub9d0\ud569\ub2c8\ub2e4. “\uc6b0\ub9ac \ubcf4\uc721\uc6d0\uc740 \ubd80\ubaa8\uc640 \uac00\uc7a5 \uac15\ud55c \uc720\ub300\uac10\uc744 \uac16\ub294 \uacbd\ud5a5\uc774 \uc788\uc73c\ubbc0\ub85c \uc77c\ubc18\uc801\uc73c\ub85c \ub300\ubd80\ubd84\uc758 \uc758\uc0ac \uc18c\ud1b5\uc744 \uad00\ub9ac\ud569\ub2c8\ub2e4.” “\uc6b0\ub9ac\ub294 \ubaa8\ub4e0 \uac00\uc871\uc774 \uc7ac\uc120\ubcc4 \uc2ec\uc0ac\ub97c \uc704\ud574 \ub3cc\uc544\uc624\uae30\ub97c \uad8c\uc7a5\ud558\uc9c0\ub9cc CK-MM \uac12\uc774 \ud2b9\ud788 \ub192\uace0 \ub2e4\ub978 \uc784\uc0c1\uc801 \uc694\uc778\uc73c\ub85c \uc124\uba85\ub418\uc9c0 \uc54a\ub294 \uac00\uc871\uc5d0\uac8c\ub294 \ud2b9\ud788 \uac15\ub825\ud55c \uaca9\ub824\ub97c \uc81c\uacf5\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4.”<\/p>\n

\uc784\uc0c1\uc758\uc640 \uc720\uc804 \uce74\uc6b4\uc2ac\ub7ec\ub294 \uc790\ub140\uac00 \uacb0\uad6d DMD\uc758 \uc720\uc804\uc790 \ud655\uc778\uc744 \ubc1b\ub294 \ubd80\ubaa8\ub97c \uc704\ud574, \uc885\uc885 \uc2ac\ud514, \uace0\ud1b5, \ub450\ub824\uc6c0 \ubc0f \uae30\ud0c0 \ubd80\uc815\uc801\uc778 \uac10\uc815\uc744 \uc720\ubc1c\ud558\ub294 \ud30c\uad34\uc801\uc774\uace0 \uc0b6\uc744 \ubcc0\ud654\uc2dc\ud0a4\ub294 \uc9c4\ub2e8\uc744 \uc81c\uacf5\ud558\ub294 \ub354 \uae4a\uc740 \ub3c4\uc804\uc5d0 \uc9c1\uba74\ud569\ub2c8\ub2e4. \uadf8\ub7ec\ub098 Chien \ubc15\uc0ac\ub294 \uc0c8\ub85c\uc6b4 \uce58\ub8cc\ubc95\uc774 \ub354 \ub099\uad00\uc801\uc778 \uc804\ub9dd\uc744 \uc81c\uacf5\ud560 \uac83\uc744 \ud76c\ub9dd\ud569\ub2c8\ub2e4.<\/p>\n

\uadf8\ub140\ub294 \ub9d0\ud569\ub2c8\ub2e4. “\uc2e0\uc0dd\uc544\ub97c \uc704\ud55c DMD \uc120\ubcc4 \uc2ec\uc0ac\ub294 \ub300\ub9cc\uc5d0 \uc815\ucc29\ud558\uac8c \ub420 \uac83\uc785\ub2c8\ub2e4.” “\uc774 \uc811\uadfc\ubc95\uc758 \uac00\uce58\uc640 \uc591\uc131 \ubc18\uc751\uc744 \ubcf4\uc774\ub294 \uc0ac\ub78c\ub4e4\uc744 \uc704\ud55c \ub2e4\uc74c \ub2e8\uacc4\ub294 \uc5ec\uae30\uc5d0\uc11c \ub354 \ub098\uc740 \uce58\ub8cc \uc635\uc158\uc744 \uc0ac\uc6a9\ud560 \uc218 \uc788\uc744 \ub54c \ud6e8\uc52c \ub354 \uba85\ud655\ud574\uc9c8 \uac83\uc785\ub2c8\ub2e4.”<\/p>\n

\uc774 \uae00\uc740 \uad50\uc721 \ucf58\ud150\uce20\uc640 \ucee4\ubba4\ub2c8\ud2f0 \uad6c\ucd95\uc744 \ud1b5\ud574 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac \ubc0f \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc758 \ubaa8\ubc94 \uc0ac\ub840\ub97c \ucd09\uc9c4\ud558\ub294 \uc774\ub2c8\uc154\ud2f0\ube0c\uc778 Project Strongbow\uc758 \uacf5\ub3d9 \ucc45\uc784\uc790\uc774\uc790 Roche Diagnostics Asia Pacific\uc758 \uc758\ub8cc \ucc38\uc5ec \ucc45\uc784\uc790\uc778 Will Greene\uc774 \uc791\uc131\ud588\uc2b5\ub2c8\ub2e4. \uc774 \uc8fc\uc81c\uc5d0 \ub300\ud55c \uae30\uc0ac\uc640 \ube44\ub514\uc624\ub97c \ub354 \ubcf4\ub824\uba74 \uc2e0\uc0dd\uc544 \uc2a4\ud06c\ub9ac\ub2dd \ud398\uc774\uc9c0<\/a>\ub97c \ubc29\ubb38\ud558\uc2ed\uc2dc\uc624.\u00a0<\/em><\/p>\n

\n

\ucc38\uace0 \ubb38\ud5cc:<\/em><\/p>\n

[1]<\/a> The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study (2023) EveryLife Foundation. \ucc38\uc870 \uc0ac\uc774\ud2b8: https:\/\/everylifefoundation.org\/app\/uploads\/2023\/09\/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf<\/p>\n

[2]<\/a> Chien, Y.-H. et al. (2022) \u2018Duchenne muscular dystrophy newborn screening: The first 50,000 newborns screened in Taiwan\u2019, Neurological Sciences, 43(7), pp. 4563\u20134566. doi:10.1007\/s10072-022-06128-2.<\/p>\n

[3]<\/a> Newborn screening in Taiwan: Q&A with Dr Yin-Hsiu (Nancy) Chienhttps:\/\/www.labinsights.com\/get-inspired\/content\/newborn-screening-taiwan-qa-dr-yin-hsiu-nancy-chien<\/p>\n","protected":false},"excerpt":{"rendered":"

\ub300\ub9cc\uc740 \uc8fc\ub85c \uc18c\ub144\uc5d0\uac8c \uc601\ud5a5\uc744 \ubbf8\uce58\ub294 \uc2ec\uac01\ud55c \uc720\uc804\ubcd1\uc778 \ub4c0\uc13c \uadfc\uc721 \uc774\uc601\uc591\uc99d(DMD)\uc5d0 \ub300\ud55c \ub300\ubd80\ubd84\uc758 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac\ub97c \uc815\uae30\uc801\uc73c\ub85c \ud558\ub294 \uc804 \uc138\uacc4 \uc18c\uc218\uc758 \uad6d\uac00 \ubc0f \uc9c0\uc5ed \uc911 \ud558\ub098\uc785\ub2c8\ub2e4. \uadf8\ub7ec\ub098 DMD\uc5d0 \ub300\ud55c \uacfc\ud559\uc801 \uc774\ud574\uc640 \uce58\ub8cc\uc758 \uc9c0\uc18d\uc801\uc778 \ubc1c\uc804 \uc18d\uc5d0\uc11c \ub354 \ub9ce\uc740 \uad6d\uac00\uac00 \uac00\uae4c\uc6b4 \uc7a5\ub798\uc5d0 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac(NBS) \ud328\ub110\uc5d0 \uc774 \uc870\uac74\uc744 \ucd94\uac00\ud558\ub294 \uac83\uc744 \uace0\ub824\ud560 \uac00\ub2a5\uc131\uc774 \ub192\uc2b5\ub2c8\ub2e4. DMD\ub294 \uc9c4\ud589\uc131 \uadfc\uc721 \uae30\ub2a5 \uc0c1\uc2e4\uacfc […]<\/p>\n","protected":false},"author":1,"featured_media":85869,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"tags":[14355],"pillarandcategory":[293,282,294],"reporter":[14454],"class_list":["post-146474","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-14355","pillarandcategory-newborn-screening","pillarandcategory-disease-area","pillarandcategory-rare-diseases","reporter-chien-yin-hsiu"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146474","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article"}],"about":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/types\/acf_article"}],"author":[{"embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":5,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146474\/revisions"}],"predecessor-version":[{"id":149418,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146474\/revisions\/149418"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/media\/85869"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/media?parent=146474"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/tags?post=146474"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/pillarandcategory?post=146474"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/reporter?post=146474"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}