| 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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| AHD | acquired hepatocerebral degeneration; acute heart disease; antihyaluronidase; antihypertensive drug;... |
|---|---|
| ARD | absolute reaction of degeneration; acute radiation disease; acute respiratory disease; adult respira... |
| DD | dangerous drug; data definition; day of delivery; degenerated disc; degenerative disease; delusional... |
| DDD | AV universal [pacemaker]; defined daily dose; degenerative disc disease; dehydroxydinaphthyl disulfi... |
| ND | Doctor of Naturopathy; nasal deformity; natural death; Naval Dispensary; neonatal death; neoplastic ... |
| familial emphysema | Emphysema inherited in association with severe alpha-1 antitrypsin deficiency. It may occur as an isolated feature or with cutis laxa and haemolytic anaemia. (05 Mar 2000) |
|---|---|
| familial erythroblastic anaemia | An outmoded term for thalassaemia major. (05 Mar 2000) |
| familial fat-induced hyperlipaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
| familial glycinuria | A metabolic disorder believed to be due to defective renal glycine reabsorption; it may or may not be accompanied by oxalate urolithiasis; may be the heterozygous state of iminoglycinuria; autosomal dominant inheritance. (05 Mar 2000) |
| familial goiter | A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: 1) iodide transport defect, in which the gland is unable to concentrate iodide; 2) organification defect, in which the iodination of tyrosine is defective; 3) Pendred's syndrome; 4) coupling defect, in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; 5) iodotyrosine deiodinase defect, in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; 6) plasma iodoprotein disorder, in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; 7) hereditary hyperthyroidism. (05 Mar 2000) |
| familial high density lipoprotein deficiency | Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. Synonym: familial high {density lipoprotein deficiency}, Tangier disease. Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood (05 Mar 2000) |
| familial hyperbetalipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |
| familial hypercholesteraemic xanthomatosis | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| familial hypercholesterolaemia | <biochemistry, cardiology> Excess of cholesterol in plasma as a result of defects in the recycling process that leads to reduced uptake of LDL (low density lipoprotein) into coated vesicles. (18 Nov 1997) |
| familial hypercholesterolaemia with hyperlipaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |
| familial hyperchylomicronaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
| familial hyperchylomicronaemia with hyperprebetalipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of chylomicrons, VLDL, pre-beta-lipoproteins, and triglycerides, and slight rise of cholesterol on a normal diet, with beta-lipoproteins normal; may be accompanied by bouts of abdominal pain, hepatosplenomegaly, susceptibility to atherosclerosis, and abnormal glucose tolerance; probably autosomal recessive inheritance. Synonym: combined fat-and carbohydrate-induced hyperlipaemia, familial hyperchylomicronaemia with hyperprebetalipoproteinaemia, mixed hyperlipaemia. (05 Mar 2000) |
| familial hyperlipoproteinaemia | <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia. Origin: Gr. Haima = blood (27 Sep 1997) |
| familial hyperprebetalipoproteinaemia | Plasma levels of VLDL, pre-beta-lipoproteins and triglycerides are increased on a normal diet, but beta-lipoproteins, cholesterol, and phospholipids are normal; hypertriglyceridemia is induced by a high carbohydrate diet; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease; probably autosomal recessive inheritance. Synonym: carbohydrate-induced hyperlipaemia, familial hyperprebetalipoproteinaemia, familial hypertriglyceridemia. (05 Mar 2000) |