°ü·ÃÁúȯ¸í : CC2D2A-Related Meckel Syndrome (CC2D2A À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
CEP290-Related Meckel Syndrome (CEP290 À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
MKS1-Related Meckel Syndrome (MKS1 À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
MKS2-Related Meckel Syndrome (MKS2 À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
RPGRIP1L-Related Meckel Syndrome (RPGRIP1L À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
THEM67-Related Meckel Syndrome (THEM67 À¯ÀüÀÚ °ü·Ã ¸ßÄÌ ÁõÈıº)
¿µÇâºÎÀ§ : üÀç : °£, »ý½Ä±â, ½Å°á, Æó
Áõ»ó : °£¼¶À¯È, ´Ù³½ÅÁõ, µÚÃà ¼Õ¹ß°¡¶ô°ú´ÙÇü¼º, µÚÅë¼ö³úÅ»ÃâÁõ, ¼º±â ±âÇü, ¾ç¼ö°ú¼ÒÁõ, ÀÔ¼ú°¥¸²Áõ, ÁßÃ߽Űæ°è ±âÇü
¿øÀÎ : MKS1, MKS2, MKS3-6 À¯ÀüÀÚ µ¹¿¬º¯ÀÌ
Áø´Ü : µÚÅë¼ö³úÅ»ÃâÁõ, ´Ù³¶½ÅÁ¾, µÚÃà¼Õ¹ß°¡¶ô°ú´ÙÇü¼º Áß¿¡¼ ÃÖ¼ÒÇÑ 2°³ ÀÌ»ê °üÂûµÇ¸ç Á¤»ó ¿°»öüÇàÇüÀ» °¡Áö°í ÀÖÀ¸¸é Áø´Ü
Ä¡·á : ¼ö¼úÀû ±³Á¤
»êÁ¤Æ¯·ÊÄÚµå :
ÀÇ·áºñÁö¿ø : ¹ÌÁö¿ø
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¸ßÄÌ ÁõÈıº(Meckel-Graber syndrome)Àº µÚÅë¼ö³úÅ»ÃâÁõ, Ä¿´Ù¶õ ´Ù³¶½ÅÀå°ú ÃàµÚ¼Õ¹ß°¡¶ô°ú´ÙÁõÀÇ ¼¼°¡Áö ¡Èĸ¦ Ư¡À¸·ÎÇÏ¸ç ¾ÆÁÖ µå¹°°í Ä¡¸íÀûÀÎ Áõ»óÀ» º¸ÀÌ´Â »ó¿°»öü ¿¼º À¸·Î À¯ÀüÇÏ´Â ÁúȯÀÔ´Ï´Ù. ÀÔ¼ú ¹× ÀÔõÀå°¥¸²Áõ, »ý½Ä±â ±âÇü, ÁßÃ߽Űæ°è ±âÇü°ú °£¼¶À¯È µîÀÇ Áõ»óÀ» º¸À̱⵵ Çϸç, ÆóÀÇ Çü¼ºÀúÇÏÁõÀÌ »ç¸ÁÀÇ ¿øÀÎÀÌ µË´Ï´Ù.
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µÚÅë¼ö³úÅ»ÃâÁõÀº ³Ð¾îÁø µÚ ¼ý±¸¸ÛÀ» ÅëÇؼ ¸¶¸§³úõÀå, ¼Ò³ú¹ú·¹¿Í ¾Æ·¡ ¼Â° ³ú½Ç°ú È®ÀåµÈ ³Ý° ³ú½ÇÀÇ Å»ÃâÀÌ Æ¯Â¡ÀûÀÔ´Ï´Ù.
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µÚÃà ¼Õ¹ß°¡¶ô °ú´ÙÇü¼ºÀº ¸ðµç »çÁöÀÇ ¼Õ¹ß°¡¶ô¿¡¼ °üÂûµÇ³ª ´Ù¾çÇÑ ¾ç»óÀ» º¸ÀÔ´Ï´Ù. ÀϺο¡¼´Â °üÂûµÇÁö ¾Ê´Â °æ¿ìµµ ÀÖ½À´Ï´Ù.
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Á¦ 1Çü ¸ßÄÌ ÁõÈıº ¿¬°üºÐ¼® °á°ú ¿°»öü 17q21-24¿¡ MKS1 À¯ÀüÀÚ°¡ À§Ä¡ÇÏ´Â °ÍÀ¸·Î ¹àÇôÁ³À¸¸ç ÀÌ ¹Û¿¡µµ TMEM216 À¯ÀüÀÚ°¡ Á¦ 2Çü ¸ßÄÌ ÁõÈıºÀÇ ¿øÀÎ À¯ÀüÀÚ·Î ¾Ë·ÁÁö°Ô µÇ¾ú½À´Ï´Ù. ÃÖ±Ù¿¡´Â MKS3-6 À¯ÀüÀÚ Á¿¡ À§Ä¡ÇÑ ¿©·¯ °¡Áö ¿øÀÎ À¯ÀüÀÚµéÀÌ º¸°íµÇ¾ú½À´Ï´Ù.
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¿°»öü °Ë»ç¸¦ ÅëÇؼ Meckel ÁõÈıº°ú À¯»çÇÑ ÀÓ»ó¾ç»óÀ» º¸ÀÌ´Â 13¹ø »ï¿°»öüÁõ°ú °¨º°À» ÇØ¾ß ÇÕ´Ï´Ù. ¾ÆÁ÷ À¯ÀüÀÚ ºÐ¼®Àº °¡´ÉÇÏÁö ¾Ê½À´Ï´Ù.
Ãâ»ý Àü ÃÊÀ½Æĸ¦ ÅëÇؼ Áø´ÜÀÌ °¡´ÉÇÕ´Ï´Ù. ÇÏÁö¸¸ ¾ç¼ö°ú¼ÒÁõÀÌ ÀÖ´Â °æ¿ì¿¡´Â »óÀÌ Àß º¸ÀÌÁö ¾Ê¾Æ Áø´ÜÀÌ ¾î·Á¿ï ¼ö ÀÖ½À´Ï´Ù. MRI´Â ½ÉÇÑ ¾ç¼ö°ú¼ÒÁõÀÌ ÀÖ´Â °æ¿ì ÅÂ¾Æ ÀÌ»óÀ» Æò°¡Çϱâ À§ÇØ ÃÊÀ½Æĸ¦ ´ë½ÅÇÒ ¼ö ÀÖ½À´Ï´Ù.
´Ù³¶½ÅÁ¾Àº 95-100% ȯÀÚ¿¡¼ ¸ðµÎ °üÂûµÇ¸ç ÀÌ·Î ÀÎÇØ ÄáÆÏÀÇ Å©±â°¡ 10-20¹è Ä¿Áý´Ï´Ù. µÚÅë¼ö³úÅ»ÃâÁõÀº 60-80%¿¡¼ ¹ß°ßµÇ¸ç µÚÃà¼Õ¹ß°¡¶ô°ú´ÙÇü¼ºÀº 55-75%¿¡¼ º¸ÀÎ´Ù°í º¸°íµÇ°í ÀÖ½À´Ï´Ù.
ÀÌ ¼¼ °¡Áö Ư¡ÀûÀÎ Áõ»ó Áß¿¡¼ ÃÖ¼ÒÇÑ 2°³ ÀÌ»ó °üÂûµÇ¸ç Á¤»ó ¿°»öüÇÙÇüÀ» °¡Áö°í ÀÖÀ¸¸é Áø´ÜÇÒ ¼ö ÀÖ½À´Ï´Ù.
»êÁ¤Æ¯·Ê Áø´Ü±âÁØ
»êÁ¤Æ¯·Ê Áø´Ü±âÁØ
ÀÌ ÁúȯÀº »êÁ¤Æ¯·Ê ´ë»óÁúȯÀÌ ¾Æ´Õ´Ï´Ù.
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³úÅ»ÃâÁõ¿¡ ´ëÇÑ ½Å°æÇÐÀû Ä¡·á°¡ °í·ÁµË´Ï´Ù. È£Èí±â´É ¹× ÄáÆÏ ±â´É Àå¾Ö·Î 100% »ç¸ÁÇÏ°Ô µË´Ï´Ù.
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Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA.
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome.
J Pediatr. 2009 Jun 19.
Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH 2nd, Harris PC.
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
Hum Mol Genet. 2009 Jun 10.
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Utsch B, Wolf MT, Becker C, Nurnberg G, Nurnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.
Hypomorphic Mutations in Meckelin (MKS3/TMEM67) cause Nephronophthisis with Liver Fibrosis (NPHP11).
J Med Genet. 2009 Jun 8.
Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M.
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Hum Mutat. 2009 May 22.