![¿µÇâºÎÀ§´Â ü³»ÀÇ °£À̸ç, Áõ»óÀ¸·Î´Â ÇÙȲ´Þ(ºô¸®·çºó ³úÁõ), Ȳ´ÞÀÌÀÖÀ½. »ó¿°»öü ¿¼ºÁúȯ, UGT(Uridine diphosphate glycosyltransfererase)ÀÇ È°¼ºÀúÇÏ°¡ ¿øÀÎÀÓ. Áø´Ü¹ýÀ¸·Î´Â ºñ°áÇÕ°íºô¸®·çºóÇ÷Áõ, UGTÀ¯ÀüÀڰ˻簡 ÀÖ°í, Ä¡·á¹ýÀ¸·Î Ç÷À屳ȯ¼öÇ÷, ±¤¼±¿ä¹ý, Æä³ë¹ÙºñÅ»ÀÌ »ç¿ëµÊ. ÀÇ·áºñ´Â Áö¿øµÇÁö ¾ÊÀ½.](http://hetitleh.cdc.go.kr/hetitleh/download/getResource.do?type=3&fileName=s06_119_00.jpg)
¥°.°³¿ä
Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀº °£Àå³» È¿¼ÒÀÇ ¼±Ãµ¼º °á¼ÕÀ¸·Î ºô¸®·çºóÀÇ ´ë»ç°úÁ¤¿¡ ¿µÇâÀ» ÁÖ¾î Ȳ´ÞÀ» ÀÏÀ¸Å°´Â »ó¿°»öü ¿¼º À¯ÀüÁúȯÀÔ´Ï´Ù.
Á¤È®ÇÑ À¯º´·üÀº ¹àÇôÁ® ÀÖÁö ¾Ê½À´Ï´Ù. ¹Ì±¹¿¡¼ÀÇ ¹ßº´·üÀº 1,000,000¸í´ç 1¸í ¹Ì¸¸ÀÔ´Ï´Ù. ¼¼°èÀûÀ¸·Î´Â ´ÜÁö ¸î ¹é Áõ·Ê°¡ ÀÖÀ» °ÍÀ¸·Î Ãß»êµË´Ï´Ù.
Å©°Ô µÎ°¡Áö ŸÀÔÀ¸·Î ³ª´©¾î Áö´Âµ¥ Á¦ 1Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀÇ °æ¿ì 1952³â Å©¸®±Û·¯¿Í ³ªÀÚ¸£¿¡ ÀÇÇØ ½Å»ý¾ÆÀÇ ºñ°áÇÕ¼º °íºô¸®·çºóÇ÷Áõ¿Í ÇÙȲ´Þ°ú °ü·Ã¼º ÀÖ´Â ÁúȯÀ¸·Î óÀ½ ±â¼úµÇ¾ú½À´Ï´Ù. Á¦2Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀº ±×·ÎºÎÅÍ 10³â µÚÀÎ 1962³â ¾Æ¸®¾Æ½º(Arias)¿¡ ÀÇÇØ Á¦ 1Çü ÁõÈıº¿¡ ºñÇØ ³·Àº ºô¸®·çºó Ç÷ÁõÀ» º¸ÀÌ°í Æä³ë¹ÙºñÅ»(phenobarbital)À̶ó´Â Ç×°æ·ÃÁ¦ Ä¡·á¿¡ ¹ÝÀÀÇÏ´Â ÁúȯÀ¸·Î óÀ½ ±â¼úµÇ¾ú½À´Ï´Ù.
¥±.Áõ»ó
Á¦ 1Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıº ȯÀÚÀÇ °æ¿ì Ãâ»ý ´ç½Ã³ª Á÷ÈĺÎÅÍ Áö¼ÓÀûÀΠȲ´ÞÀÌ ³ªÅ¸³ª´Âµ¥ ºñÇØ Á¦ 2Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀÇ °æ¿ì À¯¾Æ±â ÈĹݱîÁöµµ Ȳ´ÞÀÌ Àß ³ªÅ¸³ªÁö ¾Ê´Â °ÍÀÌ Æ¯Â¡ÀÔ´Ï´Ù.
ÇÙȲ´ÞÀº °íºô¸®·çºóÇ÷Áõ¿¡ ÀÖ¾î °¡Àå ÁÖÀÇÇØ¾ß ÇÒ Áõ»óÀÔ´Ï´Ù. Ä¡·á¹ÞÁö ¾ÊÀº Á¦ 1Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıº ȯÀÚ¿¡°Ô ƯÈ÷ »ýÈÄ ¼öÀÏ ¾È¿¡ ¹ß»ýÇÕ´Ï´Ù. ÇÙȲ´ÞÀº Á¦ 2Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıº ȯÀÚ¿¡°Ô´Â µå¹°Áö¸¸ °¨¿°À̳ª, ¸¶Ãë, »ç¿ëÇÑ ¾à¹° µîÀÇ À¯¹ß¿äÀο¡ ÀÇÇØ ¹ß»ýÇÒ ¼ö ÀÖ½À´Ï´Ù. ÇÙȲ´ÞÀÇ ÀÓ»ó ¾ç»óÀº Àú±äÀåÁõ, û·ÂÀå¾Ö, ±â¸éÁõ µî ½ÉÇÒ °æ¿ì »ç¸Á¿¡ À̸¦ ¼öµµ ÀÖ½À´Ï´Ù.
![Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıº ÇÙȲ´Þ(Kernicterus)Àº ÀÌ»óÀûÀ¸·Î Áõ°¡ÇÑ ºô¸®·çºóÀÌ ³ú¿¡ ħÂøµÇ¾î ³úÀÇ ½Ã´ÉÀ» ÀúÇϽÃÅ°´Â ÁúȯÀÓ.](http://hetitleh.cdc.go.kr/hetitleh/download/getResource.do?type=3&fileName=s06_119_i01.jpg)
Á¦ 2ÇüÀº Á¦1Çü¿¡ ºñÇØ ¾çÈ£ÇÑ °æ°ú¸¦ º¸¿© ÇÙȲ´Þ ¹× ¿µ¾Æ±â »ç¸ÁÀÇ À§ÇèÀº Á¦ 1Çü¿¡ ºñÇØ ÈξÀ Àû½À´Ï´Ù. Áߵ ȤÀº °æµµÀÇ ºñ°áÇÕÇü °íºô¸®·çºóÇ÷ÁõÀ» ³ªÅ¸³»°í Á¦ 1Çü°úÀÇ Áß¿äÇÑ Â÷ÀÌÁ¡À¸·Î Æä³ë¹ÙºñÅ» Åõ¿© ½Ã È¿¼ÒÀÛ¿ëÀÌ À¯µµµÇ¾î ºô¸®·çºó Æ÷ÇÕ°úÁ¤ÀÌ °³¼±µÉ ¼ö ÀÖ½À´Ï´Ù.
¥².¿øÀÎ
Á¦ 1Çü°ú 2Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀº ¸ðµÎ »ó¿°»öü ¿¼ºÀ¸·Î À¯ÀüµÇ´Â ÁúȯÀÔ´Ï´Ù. 2¹ø ¿°»öü¿¡ À§Ä¡Çϴ ƯÁ¤À¯ÀüÀÚ¿¡ µ¹¿¬º¯ÀÌ°¡ ÀϾ¸é ±×·Î ÀÎÇØ ÀÌ»ó ´Ü¹éÁúÀÌ ÇÕ¼ºµÇ¾î ºô¸®·çºó Æ÷ÇÕ¿¡ Àå¾Ö¸¦ ÀÏÀ¸Å°°Ô µË´Ï´Ù.
![Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀÇ ¿øÀÎ](http://hetitleh.cdc.go.kr/hetitleh/download/getResource.do?type=3&fileName=s06_119_i02.jpg)
¥³.Áø´Ü
Ç÷¾×°Ë»ç»ó °£È¿¼Ò¼öÄ¡´Â Á¤»óÀÌÁö¸¸ ºñ°áÇÕ¼º °íºô¸®·çºóÇ÷ÁõÀÌ Á¸ÀçÇÏ´Â °æ¿ì ÀÌ ÁúȯÀ» ÀǽÉÇØ º¼ ¼ö ÀÖ½À´Ï´Ù.
°£¾Æ¹Ì³ëÀüÀÌÈ¿¼ÒÀÇ È°¼ºµµ°¡ °¨¼ÒµÇ¾î ÀÖÀ¸¸ç Æä³ë¹ÙºñÅ» Ä¡·á¿¡ ´ëÇÑ ¹ÝÀÀ À¯¹«·Î Á¦ 1Çü°ú 2ÇüÀ» °¨º°ÇÒ ¼ö ÀÖ½À´Ï´Ù. Æä³ë¹ÙºñÅ» Ä¡·á´Â Á¦ 1Çü ȯÀÚ¿¡ ÀÖ¾î È¿°ú°¡ ¾øÁö¸¸ Á¦ 2ÇüÀÇ °æ¿ì¿¡´Â Ç÷Àå ³» ºô¸®·çºó ¼öÄ¡¸¦ 25% °¨¼Ò½ÃÅ°´Â È¿°ú°¡ ÀÖ½À´Ï´Ù.
»êÁ¤Æ¯·Ê Áø´Ü±âÁØ Ç¥
»êÁ¤Æ¯·Ê Áø´Ü±âÁØ
ÀÌ ÁúȯÀº »êÁ¤Æ¯·Ê ´ë»óÁúȯÀÌ ¾Æ´Õ´Ï´Ù.
|
¥´.Ä¡·á
Á¦ 2Çü Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıº ȯÀÚ´Â ´ë°³ Ä¡·á¸¦ ÇÊ¿ä·Î ÇÏÁö ¾Ê°Å³ª Ä¡·á°¡ ÇÊ¿äÇÑ °æ¿ì Æä³ë¹ÙºñÅ»ÀÌ È¿°úÀûÀÔ´Ï´Ù.
´ëÁ¶ÀûÀ¸·Î Á¦ 1Çü ȯÀÚÀÇ °æ¿ì ÇÙȲ´Þ¿¡ ´ëÇÑ Áï°¢ÀûÀÎ Ä¡·á°¡ ÇÊ¿äÇϸç Ä¡·á ¹æ¾ÈÀ¸·Î´Â ¾ËºÎ¹Î¿¡ °áÇÕµÈ ºô¸®·çºóÀ» Ç÷Àå¿¡¼ Á¦°ÅÇÏ´Â ±³È¯¼öÇ÷°ú ºô¸®·çºóÀ» ¼ö¿ë¼ºÀ¸·Î ÀüȯÇÏ¿© ¼Òº¯ ³»·Î ¹èÃâ½ÃÅ°´Âµ¥ µµ¿òÀ» ÁÖ´Â ±¤¼±¿ä¹ýÀÌ ÀÖ½À´Ï´Ù. °æ¿ì¿¡ µû¶ó¼´Â °£À̽ÄÀÌ ÇÊ¿äÇÒ ¼öµµ ÀÖ½À´Ï´Ù.
![Å©¸®±Û·¯-³ªÀÚ¸£ ÁõÈıºÀÇ Ä¡·á](http://hetitleh.cdc.go.kr/hetitleh/download/getResource.do?type=3&fileName=s06_119_i03.jpg)
[Âü°í¹®Çå ¹× »çÀÌÆ®]
1. Crigler-Najjar Syndrome, eMedicine Gastroenterology.
2. Arias, I.M., Gartner, L.M., Cohen, M.(1969, Sep). Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med. ,47(3), 395-409.
3. Costa, E.(2006, Jan-Feb), Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis.. 36(1), 77-80.
4. Gupta, R., Parashar, Y.(2004, Nov). Crigler-najjar syndrome type II. Indian J Pediatr., 71(11), 1043.
5. Jansen, P.L.(1996, Sep). Genetic diseases of bilirubin metabolism: the inherited unconjugated hyperbilirubinemias. J Hepatol. 25(3), 398-404.
6. Jansen, P.L.(1999, Dec). Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr., 158(2), S89-94. Retrieved Dec,1999, from
http://www.ncbi.nlm.nih.gov/omim/218800
![ÀÛ¼º ¹× °¨¼ö : Áúº´°ü¸®º»ºÎ/´ëÇÑÀÇÇÐȸ](http://hetitleh.cdc.go.kr/hetitleh/download/getResource.do?type=5&fileName=s06_119.jpg)