| ¿µ¹® | syndrome | ÇÑ±Û | ÁõÈıº |
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| ¼³¸í | Áõ»óÀÇ ÁýÇÕ. ¾î¶² Áúº´ÀÇ Â¡ÈÄÀÇ ÃÑÇÕÀ» ¸»ÇÑ´Ù. ´ë°³ ±× ¿øÀÎÀº ¾Ë ¼ö ¾øÀ¸³ª, Áõ»óÀÌ º¹ÇÕÀûÀ¸·Î ³ªÅ¸³ª°í ÀÌ¿¡ ´ëÇÑ Ä¡·á°¡ ÀÏÁ¤ÇÑ °æ¿ì ÇϳªÀÇ ÁõÈıºÀ¸·Î Ãë±ÞÇÑ´Ù. |
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| ¿µ¹® | asphycitic syndrome | ÇÑ±Û | Áú½ÄÁõÈıº |
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| ¼³¸í | È£Èí±âÁßÀÇ »ê¼Ò°áÇÌ¿¡ ÀÇÇÑ »ý¸íÁ¤ÁöÀÇ Àý¹ÚÇÑ »óÅÂ, ¶Ç´Â ½ÇÁ¦·Î Á¤Áö°¡ ÀÏ¾î³ »óÅÂ, °íÀÌ»êÈź¼ÒÁõ°ú Àú»ê¼ÒÁõ ȤÀº ¹«»ê¼ÒÁõ µîÀÌ µ¿¹ÝµÈ´Ù. ¿Ü°è ÆóÀÇ °íÅëÀÌ µÎÀýµÇ¾î ÆóÀÇ È£ÈíÀÛ¿ëÀÌ Àå¾ÖµÇ´Â °Í(¿ÜÁú½Ä)°ú °¡½º³ª ¾àÁ¦¿¡ ÀÇÇØ »ýü³» Á¶Á÷ÀÇ °¡½º±³È¯ÀÌ ¹æÇظ¦ ¹Þ´Â °Í(³»Áú½Ä)ÀÌ ÀÖ´Ù. ÀϹÝÀûÀ¸·Î ¿ÜÁú½ÄÀ» °¡¸®Å°´Â °æ¿ì°¡ ¸¹´Ù. ¿øÀÎÀ¸·Î¼´Â ÄÚ³ª ÀÔ µî È£ÈíÀÔ±¸ÀÇ Æó»ö, À½½Ä¹°À̳ª À̹°¿¡ ÀÇÇÑ ±âµµÆó»ö, ¸ñÁ¶ÀÓ, ¹° ¶Ç´Â ºÐºñ¹° µîÀÌ ±âµµ·Î µé¾î°¡´Â °Í, ¾à¹° ¶Ç´Â ÆÄ»ódz¿¡ ÀÇÇÑ È£Èí±Ù¸¶ºñ, ¸Å¸ô µî ¿Ü·Â¿¡ ÀÇÇÑ È£Èí¿îµ¿ÀÇ ÀúÁö, °ø±â ÁßÀÇ »ê¼ÒºÎÁ· ¹× À¯µ¶°¡½ºÀÇ ÈíÀÔ µîÀ» µé ¼ö ÀÖ´Ù. |
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| ¿µ¹® | nephrotic syndrome | ÇÑ±Û | ÄáÆÏÁõÈıº |
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| ¼³¸í | ÄáÆÏÀÇ Å丮ÀÌ»ó¿¡ ÀÇÇÑ ´Ü¹éÁú¼Õ½ÇÀÌ ÁÖ¿øÀÎÀÎ º´ÀÌ´Ù. ±× Á¤ÀÇ´Â ¼ºÀÎÀÇ ¿ä´Ü¹é·®(¼Òº¯¿¡ ¼¯¿© ³ª¿À´Â ´Ü¹éÁúÀÇ ¾ç. ´ë°³ Á¤»óÀο¡¼´Â ³ª¿ÀÁö ¾Ê°Å³ª, ȤÀº ¾ÆÁÖ ¼Ò·®ÀÌ ³ª¿Ã »ÓÀÓ)ÀÌ ÇÏ·ç 3.5mgÀÌ»ó, ¶ÇÇÑ ¼Ò¾Æ¿¡¼´Â Ç÷Áß ¾ËºÎ¹Î³óµµ°¡ 2.5mgÀÌÇÏ, ÇÏ·íµ¿¾È ¼Òº¯À¸·Î ³ª¿À´Â ¿ä´Ü¹é·®À» ½Ã°£´ç °è»êÇßÀ» ¶§ ½Ã°£´ç 40mgÀÌ»óÀÎ °æ¿ìÀÌ´Ù. µû¶ó¼ ÄáÆÏÁõÈıºÀ̶õ À§ÀÇ Á¤ÀÇ¿¡ ÇÕ´çÇϱ⸸ ÇÏ¸é ¸ðµÎ ÇØ´çµÇ¹Ç·Î, ¿©·¯ °¡Áö ¿øÀο¡ ÀÇÇÑ ÄáÆÏÀÌ»óÀ¸·Î¼ ´Ü¹éÁúÀÇ Áö³ªÄ£ ¹èÃâÀ» ³ªÅ¸³»´Â Áúº´ÀÇ ÁýÇÕü¸¦ ¶æÇÑ´Ù. ´ë°³ Áõ»óÀº Áö³ªÄ£ Ç÷ÁߴܹéÁúÀÇ °¨¼Ò·Î ÀÎÇÑ ºÎÁ¾, ±×¸®°í ÀÌÂ÷ÀûÀÎ Áõ»óÀ¸·Î ¹ß»ýÇÑ °íÁöÁúÇ÷Áõ, °¨¿°°¨¼ö¼ºÀÇ Áõ°¡, °íÇ÷¾Ð µîÀÌ´Ù. Ä¡·á¿Í ¿¹ÈÄ´Â ÄáÆÏÁõÈıºÀ» ³ªÅ¸³»´Â °¢ ¿øÀο¡ µû¶ó ´Ù¸£³ª, ´ë°³ ¼Ò¾Æ¿¡ ¹ß»ýÇÑ °æ¿ì ½ºÅ×·ÎÀ̵åÁ¦Àç¿¡ ÀÇÇÑ Ä¡·áÈ¿°ú°¡ ³ô´Ù. |
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| ¿µ¹® | Cushing's syndrome | ÇÑ±Û | Äí½ÌÁõÈıº |
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| ¼³¸í | Äí½ÌÁõÈıºÀ̶õ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ¸¸¼ºÀûÀ¸·Î °úÀ׺кñ¿¡ ÀÇÇØ¼ ÀϾ´Â º´À» ¸»ÇÑ´Ù. ¿øÀÎÀ¸·Î ¨ç ³úÇϼöü¿¡¼ ACTH°¡ °úÀ× ºÐºñµÇ´Â °æ¿ì: ³úÇϼöü¿¡¼ ACTH°¡ ³Ê¹«³ª ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì¿¡ ºÎ½Å°ÑÁúÀ» ÀÚ±ØÇؼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨è ³úÇϼöü ÀÌ¿ÜÀÇ ºÎºÐ¿¡¼ ACTH°¡ ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì: Æó¾Ï, ³¼Ò¾Ï µîÀÇ Á¾¾ç¿¡¼ ACTH¸¦ »ý»êÇÏ´Â °æ¿ì°¡ ÀÖ´Ù. ÀÌ °æ¿ì¿¡µµ ¿ª½Ã ºÎ½ÅÇÇÁúÀÌ ÀÚ±ØÀÌ µÇ¾î¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨é ACTHÀÇ ÀÚ±ØÀÌ ¾øÀÌ ºÎ½Å¿¡¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ³ª¿À´Â °æ¿ì. ACTHÀڱؿ¡ °ü°è¾øÀÌ ºÎ½ÅÇÇÁúÀÇ °úÀ×¼ºÀå, Á¾¾ç¿¡ ÀÇÇØ¼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÇ´Â °æ¿ì. ¨ê ¿ÜÀμº, ÀÇÀμº: Ä¡·á¸¦ À§Çؼ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵带 Àå±â Åõ¿©ÇÒ °æ¿ì¿¡ »ý±â´Â Äí½ÌÁõÈıº Äí½ÌÁõÈıº¿¡¼ ƯÈ÷ ¨ç¹ø¿¡ ÇØ´çÇÏ´Â °ÍÀ» Äí½Ìº´¶ó°í ÇÑ´Ù. Áõ»óÀº ¶×¶×ÇÏ°í ¾ó±¼ÀÌ ´Þµ¢ÀÌó·³ µÕ±Û°í »ìÀÌ ÂÈÁö¸¸ ÆÈ, ´Ù¸®´Â °¡´Ã°í ´ë½Å¿¡ ¸ö¿¡ ¸¹Àº »ìÀÌ ºÙ¾îÀÖ´Ù. ¸ñµÚ¿¡ ¸¹Àº »ìÀÌ ÀÖ¾î¼ ±×°ÍÀÌ µ¢¾î¸®¸¦ Çü¼ºÇϱ⵵ ÇÑ´Ù. À̰ÍÀº ¿ø·¡ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 Áö¹æÀ» ºÐÇØÇÏ´Â ¿ªÇÒÀ» ÇÏÁö¸¸ º´ÀûÀ¸·Î ¸¹ÀÌ ³ª¿Ã °æ¿ì¿¡´Â Áö¹æÀÇ ºÐÆ÷¸¦ º¯È½ÃŰ´Â ¿ªÇÒÀ» Çϱ⠶§¹®ÀÌ´Ù. Áï ÆÈ, ´Ù¸® µîÀÇ ¿Â¸ö¿¡ ÆÛÁ®ÀÖ´Â Áö¹æÀ» ¸öÅëÂÊÀ¸·Î ¸ðµÎ À̵¿½ÃŲ´Ù. ÀÜÅÐÀÌ ¿Â¸ö¿¡ °ÉÃļ ¸¹ÀÌ ³ªÀÖ°í ¿©µå¸§ÀÌ ¸¹°í ¹è¿¡ ÀÚÁÖ»ö ¼±Á¶°¡ ÀÖ´Â °æ¿ì°¡ ¸¹´Ù. ±×¸®°í ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ´Ü¹éÁúÀ» ºÐÇØÇØ¼ ´ç·ù¸¦ ¸¸µå´Â ¿ªÇÒÀ» ÇÏ¿© ±ÙÀ°À̳ª »À´ëÀÇ ½ÉÇÑ ¼Ò½ÇÀÌ ÀÖ´Ù. ±×·¡¼ ±ÙÀ°ÀÌ °ÅÀÇ ¾ø¾îÁö°í »À´Â ¾ÆÁÖ ºÎ·¯Áö±â ½±°Ô µÈ´Ù. ´ë°³ °íÇ÷¾ÐÀÎ °æ¿ì°¡ ¸¹°í ½É¸®ÀûÀ¸·Î ¿ì¿ïÁõÀ̳ª °ú¹Î¼º µîÀÌ ÀÖÀ» ¼öµµ ÀÖ°í ½ÉÇÑ °æ¿ì¿¡´Â Á¤½Åº´Áõ¼¼¸¦ º¸À̱⵵ ÇÑ´Ù. |
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| ¿µ¹® | Klinefelter syndrome | ÇÑ±Û | Ŭ¶óÀÎÆçÅÍÁõÈıº |
|---|---|---|---|
| ¼³¸í | 1942³â H.F. Ŭ¶óÀÎÆçÅͰ¡ ±âÀçÇÑ ¼º¿°»öüÀÌ»óÁõÈıº. Á¤»óÀÎÀÇ ¼º¿°»öüÇüÀº ³²¼º XY, ¿©¼º XX¸¦ ³ªÅ¸³»Áö¸¸, ÀÌ ÁõÈıº¿¡¼´Â ¼º¿°»öüÇüÀÌ XXY. XXYY, XXXXY µîÀÇ ¿©·¯ °¡Áö ÀÌ»óÇÑ ÇüŸ¦ ³ªÅ¸³½´Ù. ¿Ü¼º±â-ü°Ý-¼ºÂ¡ µîÀÇ Æ¯Â¡ÀûÀÎ Áõ¼¼·Î º¼ ¶§¿¡ ¿ÏÀüÇÑ ³²¼ºÀÌ °áÈ¥ÇÏ¿© ¼º»ýȰ±îÁö ÇÏ¿´À¸³ª, ÀÚ½ÄÀÌ ¾øÀÚ ºÎºÎ°¡ ÇÔ²² º´¿øÀ» ã¾Æ°¡¼ ¿°»öü¸¦ °Ë»çÇØ º¸°í ³²ÀÚ¿¡°Ô ÀÌ ÁõÈıºÀÌ ÀÖÀ½À» ¾Ë°Ô µÇ´Â °æ¿ì°¡ ¸¹´Ù. ÀÌ ¹Û¿¡ ¼ºÀÎÀÌ µÇ¾î ³ªÅ¸³ª´Â ÁÖ¿ä Áõ¼¼¸¦ µé¸é, ÀÛÀº°íȯ, ¿©¼ºÇü À¯¹æÁõ, ¹«Á¤ÀÚÁõ, ºÒÀÓ, ¿äÁß °í³ªµµÆ®·ÎÇÉÀÇ »ó½Â, Áö´É ÀúÇÏ µîÀÌ´Ù. Ä¡·á´Â 2Â÷ ¼ºÂ¡ÀÇ ÃËÁøÀ» À§ÇÏ¿© È£¸£¸ó¿ä¹ý¿¡ ÀÇÇÑ ³²¼ºÈ¸¦ ½ÃµµÇÑ´Ù. |
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| AREDYLD | acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes [syndrome] |
|---|---|
| CDS | cardiovascular surgery; catechol-3, 5-disulfonate; caudal dysplasia syndrome; Chemical Data System; ... |
| CHANDS | curly hair-ankylobleph-aron- nail dysplasia syndrome |
| COD-MD | cerebro-ocular dysplasia-muscular dystrophy [syndrome] |
| DGSX | X-linked dysplasia gigantism syndrome |
| dysplasia epiphysialis multiplex | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
|---|---|
| dysplasia epiphysialis punctata | A developmental error of the epiphyses characterised by severe deformities, epiphyses ossified from several discrete centres and with a stippled appearance, and thickened shafts of the long bones; congenital cataract and mental retardation are often present. There is an autosomal dominant form and an autosomal recessive form. Synonym: chondrodysplasia punctata, chondrodystrophia calcificans congenita, hypoplastic foetal chondrodystrophy, stippled epiphysis. (05 Mar 2000) |
| oculoauriculovertebral dysplasia | A syndrome characterised by epibulbar dermoids, preauricular appendages, micrognathia, and vertebral and other anomalies. Synonym: Goldenhar's syndrome, OAV syndrome. (05 Mar 2000) |
| oculodentodigital dysplasia | Microphthalmia, coloboma, or anomalies of the iris associated with malformed and malpositioned teeth and with anomalies of the fingers including syndactyly, campylodactyly, or absent phalanges; autosomal dominant inheritance. (05 Mar 2000) |
| oculovertebral dysplasia | Microphthalmia, colobomas, or anophthalmia with small orbit, twisted face due to unilateral dysplasia of maxilla, macrostomia with malformed teeth and malocclusion, vertebral malformations, and branched and hypoplastic ribs. Synonym: oculovertebral syndrome, Weyers-Thier syndrome. (05 Mar 2000) |
| odontogenic dysplasia | A localised arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (12 Dec 1998) |
| ophthalmomandibulomelic dysplasia | An autosomal dominant disorder with corneal clouding and multiple abnormalities of the mandible and limbs. (05 Mar 2000) |
| thanatophoric dysplasia | A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or in the neonatal period. (12 Dec 1998) |
| ectodermal dysplasia | A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Origin: Gr. Plassein = to form (27 Sep 1997) |
| enamel dysplasia | An autosomal dominant or x-linked disorder in which there is faulty development of the dental enamel owing to agenesis, hypoplasia, or hypocalcification of the enamel. It is marked by enamel that is very thin and friable and frequently stained in various shades of brown. (12 Dec 1998) |
| epithelial dysplasia | A disorder of differentiation of epithelial cells which may regress, remain stable, or progress to invasive carcinoma. (05 Mar 2000) |
| faciodigitogenital dysplasia | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| familial white folded dysplasia | An autosomal dominant condition of the oral cavity characterised by soft, white or opalescent, thickened and corrugated folds of mucous membrane; other mucosal sites are occasionally involved simultaneously. Synonym: familial white folded dysplasia, oral epithelial nevus. (05 Mar 2000) |
| fibromuscular dysplasia | <radiology> Beaded segment of artery, medial type most common, F more than M, renal arteries, most common vessels, R more than L, mid and distal 1/3 (Differential diagnosis: atherosclerosis - ostium/proximal) (12 Dec 1998) |
| fibrous dysplasia | A condition of cystic bone growth that results from abnormal bone development. May occur with bone lesions, skin pigmentation and endocrine abnormalities. See: McCune-Albright syndrome. Origin: Gr. Plassein = to form (27 Sep 1997) |
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