| 영문 | Wilson's disease | 한글 | 윌슨병 |
|---|---|---|---|
| 설명 | 간이나 뇌에 구리가 비정상적으로 쌓여 일어나는 유전성 대사병. 간경화증이나 신경 증상이 따르는데, 손 떨림이나 언어 장애가 생기고 눈의 각막 주위에 녹갈색 고리가 나타난다. 영국의 신경과 의사 윌슨(Wilson)이 분류한 병이다. 보통염색체 열성으로 유전된다. 한국에서도 현재까지 50여 예가 보고되어 있다. 이병은 보통염색체 열성으로 유전되며, ATP7B라는 윌슨병 유전자가 13번 염색체에 위치한다. 특징으로 구리가 간, 뇌 및 각막에 축적하여 만성 간염 또는 간경화와 같은 간손상을 일으키고, 뇌 특히 렌즈핵의 퇴행 변화와 각막모서리에 녹갈색의 Kayser-Fleischer 고리를 형성한다. 임상증상의 발현은 보통 5~15세에 시작하는데 30~40세가 되도록 증상이 없을 수도 있다. |
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| 영문 | hyaline membrane disease | 한글 | 유리질막병 |
|---|---|---|---|
| 설명 | 허파 성숙도의 미숙으로 허파꽈리를 팽창시키는 물질(표면활성제)이 부족하여 호흡곤란이 초래되는 병으로서 미숙아에 호발하는데, 출생시 임신기간보다도 허파 성숙 정도가 더 관여된다. 단일 병으로서는 사망률이 가장 높으며(약 30%), 신생아의 대표적인 병이다. 임상적으로는 미숙아, 생후 6~8시간내 호흡곤란증세 출현과 생후 24~48시간의 증상 악화, 생후 2~3일간 인공적으로 산소를 공급하지 않으면 호흡을 계속시킬 수가 없으며 점점더 산소의 공급 의존도가 높아지며, 동맥혈액속의 산소농도가 내려가고 이산화탄소의 농도가 높으며, 흉부 방사선 소견을 참작하여 진단한다. 환아는 숙련된 간호 인력과 첨단 의료 장비가 설치된 신생아 집중 치료실에서 치료하여야 한다. 예후는 증세의 경중에 따라 다르고 사망률은 30~50% 된다. 어떤 아기에 있어서는 치료 후에 눈이나 기관지허파 계통에 장애를 일으키는 산소중독증이 보고되고 있다. |
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| 영문 | fibrocystic disease of breast | 한글 | 유방 섬유낭병 |
|---|---|---|---|
| 설명 | 젖을 생산하는 젖샘내에 완두콩 또는 큰콩 크기의 결절이 발생하는 증세를 특징으로 하는 병. 30~50대의 부인에게 흔히 발생하며, 그 대부분은 양쪽 유방에 동시에 발생한다. 이러한 결절은 두 손가락 사이에 끼워 촉진할 때는 분명하지만, 흉벽을 손바닥으로 누르면 명료하지 않을 정도로 부드러운 것이 많다. 그 발생 원인에는 여러 가지 설이 많은데, 젖샘조직에 대한 만성적인 자극이 주원인이라 생각되고 있으며, 극히 서서히 진행하는 경과를 밟는다. 진단은 촉진, 초음파진단 등으로 하며, 암과 감별이 곤란할 때는 조직의 일부를 채취하여 검사하는 생검이 이용되기도 한다. |
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| 영문 | periodontal disease | 한글 | 치주병 |
|---|---|---|---|
| 설명 | 잇몸과 치아, 그리고 그 주위 뼈의 염증과 퇴행성 변화를 말함. 치료에 있어서 잇몸의 제거가 필수적이다. 잇몸의 제거는 새로운 잇몸의 생성을 조장한다. |
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| 영문 | Crohn's disease | 한글 | 크론병 |
|---|---|---|---|
| 설명 | 만성적이고 재발을 잘하는 창자의 염증을 특징으로 하는 병. 장의 벽은 안쪽에서부터 점막, 점막하조직, 근육층, 장막의 4개의 층으로 이루어져 있는데, 크론병은 이 모든 층의 염증을 동반한다. 장의 모든 부분에서 생길 수가 있지만 주로 막창자와 연결되는 큰창자의 말단부에 가장 많이 생긴다. 창자의 전층의 염증으로 인해서 장의 폐쇄나 괴양을 만들며 종종 천공된다. |
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| GSD | genetically significant dose; Gerstmann-Straussler disease; glutathione synthetase deficiency; glyco... |
|---|---|
| SCD | scleroderma; service-connected disability; sickle-cell disease; spinocerebellar degeneration; subacu... |
| ECG | Electro-Cardio-Graphy(-Gram); 심전도 = EKG 1. Conducting System Structu... |
| AHD | acquired hepatocerebral degeneration; acute heart disease; antihyaluronidase; antihypertensive drug;... |
| ARD | absolute reaction of degeneration; acute radiation disease; acute respiratory disease; adult respira... |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
|---|---|
| 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 glandular deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| 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) |
| corpus luteum deficiency syndrome | <syndrome> Functional disturbances caused by insufficient ovarian luteinization; reflected by inadequate luteal phase endometrial response. (05 Mar 2000) |
| polyendocrine deficiency syndrome | <syndrome> Polyglandular deficiency syndrome, associated pathologic dysfunction of several endocrine glands, as in Schmidt's syndrome. (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) |
| hageman factor deficiency | A deficiency of a specific blood clotting factor (XII) that may be genetic or acquired. Administration of heparin or severe liver disease may result in factor XII (Hageman factor) deficiency. There are usually no symptoms associated with this deficiency, but there may be symptoms of mild blood loss in some cases. Treatment is generally unnecessary. Individuals should be cautioned against the use of medications (for example aspirin, warfarin, heparin) with anticoagulant activity, due to risk of exaggerated effects. (27 Sep 1997) |
| hepatophosphorylase deficiency glycogenosis | Glycogenosis due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes. Synonym: hepatophosphorylase deficiency glycogenosis, Hers' disease. (05 Mar 2000) |
| protein c deficiency | Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein c results in thrombotic (clotting) disease and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing haemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein c deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal. (12 Dec 1998) |
| protein deficiency | A nutritional condition produced by a deficiency of proteins in the diet, characterised by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (12 Dec 1998) |
| protein s deficiency | An autosomal dominant disorder showing decreased levels of plasma protein s antigen or activity, associated with venous thrombosis and pulmonary embolism. Protein s is a vitamin k-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated protein c (also a vitamin k-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein c deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (12 Dec 1998) |
| prothrombin deficiency | A congenital or acquired disorder of blood clotting where there is a deficiency of factor II (prothrombin), one of 20 necessary plasma proteins for normal blood coagulation. Acquired factor II deficiency may result from vitamin K deficiency, severe liver disease and anticoagulant drugs. Symptoms include abnormal bleeding, nosebleeds, abnormal menstrual bleeding, easy bruising and umbilical cord bleeding at birth. Treatment involves the infusion of fresh frozen plasma. Vitamin K may be administered in select cases. (27 Sep 1997) |