| ¿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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| ¿µ¹® | fetal alcohol syndrome | ÇÑ±Û | žƾËÄÚ¿ÃÁõÈıº |
|---|---|---|---|
| ¼³¸í | ÀӽűⰣ Áß ¸¸¼ºÀûÀ¸·Î ¾ËÄÚ¿ÃÀ» ¼·ÃëÇÑ ¿©ÀÚ¿¡°Ô¼ ÅÂ¾î³ ¿µ¾Æ¿¡°Ô ³ªÅ¸³ª´Â ÇüŹ߻ýÀÇ ÀÌ»óÀ» ³ªÅ¸³»´Â ÁõÈıºÀ¸·Î¼ À§ÅλÀ¹ßÀ°ºÎÀü, ¾Õ¸Ó¸®¿Í ¾Æ·¡ÅÎÀÇ µ¹Ãâ, ªÀº°Ë¿, ÀÛÀº¾È±¸Áõ, ´«±¸¼®ÁÖ¸§, ½ÉÇÑ ¼ºÀåÁö¿¬, Á¤½ÅÁöü µîÀ» ³ªÅ¸³½´Ù. |
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| SAIDS | sexually acquired immunodeficiency syndrome; simian acquired immune deficiency syndrome |
|---|---|
| WDHA Syndrome | Watery Diarrhea, Hypokalemia, Achlorhydria Syndrome = Pancreatic Cholera (Syndrome)<... |
| HS | Haber syndrome; half strength; hamstring; hand surgery; Hartmann solution; head sling; healthy subje... |
| KS | Kallmann syndrome; Kaposi sarcoma; Kartagener syndrome; Kawasaki syndrome; keratan sulfate; ketoster... |
| RS | radioscaphoid; random sample; rating schedule; Raynaud syndrome; recipient's serum; rectal sinus; re... |
| glucosephosphate isomerase deficiency | <enzyme> An enzyme deficiency characterised by chronic nonspherocytic haemolytic anaemia; autosomal recessive inheritance. Synonym: phosphohexose isomerase deficiency. (05 Mar 2000) |
|---|---|
| glutathione synthetase deficiency | An inborn error of metabolism associated with massive urinary excretion of 5-oxyproline, elevated levels of 5-oxyproline in the blood and cerebrospinal fluid, severe metabolic acidosis, tendency toward haemolysis, and defective central nervous systems function. Glutathione synthetase deficiency has been reported as a generalised condition or with a deficiency restricted to erythrocytes. (05 Mar 2000) |
| mental deficiency | Subnormal intellectual functioning which originates during the developmental period and is associated with impairment of one or more of the following: (1) maturation, (2) learning, (3) social adjustment. (12 Dec 1998) |
| riboflavin deficiency | A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-coloured tongue that may show fissures, corneal vascularization, dyssebacia, and anaemia. (12 Dec 1998) |
| choline deficiency | A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the b vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (12 Dec 1998) |
| phosphohexose isomerase deficiency | <enzyme> An enzyme deficiency characterised by chronic nonspherocytic haemolytic anaemia; autosomal recessive inheritance. Synonym: phosphohexose isomerase deficiency. (05 Mar 2000) |
| placental sulfatase deficiency | <enzyme> An enzyme defect in the placenta which results in failure of conversion of 16a-hydroxydehydroepiandrosterone to estriol; women with this condition rarely enter into spontaneous labour. (05 Mar 2000) |
| platelet storage pool deficiency | A group of disorders characterised by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5ht are normally stored. (12 Dec 1998) |
| congenital antithrombin III deficiency | Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. Small blood clots form normally within the bloodstream, but are normally dissolved via the bodys antithrombin III. The deficiency of antithrombin III will result in an increased risk for blood clot formation causing organ damage. This is an inherited as a autosomal dominant trait. Inheritance: autosomal dominant. (27 Sep 1997) |
| multiple carboxylase deficiency | Abnormalities in carbohydrate and branched-chain amino acid catabolism that are responsive to biotin therapy. It may be due to deficiency of propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, biotinidase, or propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. (12 Dec 1998) |
| congenital protein C or s deficiency | This inherited disorder of blood coagulation is characterised by a deficiency of vitamin K dependent plasma proteins (C and s) that are naturally occurring anticoagulants. This disorder results in an increased risk of blood clot formation within the circulatory system. (27 Sep 1997) |
| multiple sulfatase deficiency | An inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues causing demyelination, sulfatiduria, facial and skeletal dysmorphism, etc. (05 Mar 2000) |
| muscle phosphorylase deficiency | Type V glycogen storage disease, affecting muscle, caused by deficiency of muscle phosphorylase. (05 Mar 2000) |
| myophosphorylase deficiency glycogenosis | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| potassium deficiency | A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhoea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (merck manual, 16th ed) (12 Dec 1998) |
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