1.苯酮尿症(Phenylketonuria；PKU)
2.先天性甲狀腺低能症(Congenital Hypothyroidism；CHT)
3.高胱胺酸尿症(Homocystinuria)
4.半乳糖血症(Galactosemia；GAL)
5.葡萄糖六磷酸鹽去氫酶缺乏症
(Glucose-6-Phosphate
Dehydrogenase Deficiency；G6PD Deficiency)
6.先天性腎上腺增生症(Congenital Adrenal Hyperplasia；CAH)
7.楓漿尿症(Maple
Syrup Urine Disease；MSUD)
8.中鏈醯輔酶A去氫氫酵素缺乏症(Medium Chain Acyl-CoA Dehydrogenase Deficiency；MCAD)
9.戊二酸血症第一型(Glutaric
Acidemia Type I；GAI)
10.異戊酸血症(Isovaleric
Acidemia；IVA)
11.甲基丙二酸血症(Methylmalonic
Acidemia；MMA)
學名
商品名
結構
onset
peak
duration
速效
Insulin aspart
Novorapid
利用重組DNA技術，將B28 proline改為aspartic acid，使insulin無法結合為hexamer而維持insulin monomer，即有生理活性的胰島素
10-20m
1.5-2.5h
4-5h
短效
Regular insulin
Actrapid
即人體胰島素
30m
2-4h
5-7h
中效
NPH
Monotard
利用Zn與protamine改變
1-3h
4-9h
14-20h
長效
Insulin detemir
Levemir
B29外接14-carbon fatty acid chain (myristic acid)
1-3h
8-10h
24h
Insulin glargine
Lantus
A21 Aspargine以glycine置換
在B carboxy terminal外加2個arginines，使sc注射後易形成hexmer
1-2h
no
16-24h
混合型
Biphasic insulin aspart
Novomix
可溶性的insulin aspart與protamine結晶的insulin aspart組成，比例為30比70
Type
Acute thyroiditis
(Suppurative thyroiditis)
Subacute thyroiditis
(de Quervain’s)
Hashimoto’s thyroiditis
Riedel’s thyroiditis
Etiology
Bacteria>other pathogen
Virus?
Autoimmune
Unknown
Clinical finding
acutely ill with fever, dysphagia, dysphonia, anterior neck pain and erythema, and a tender thyroid mass
preceding URI, fever and severe neck pain, swelling, thyrotoxicosis syndrome
Usually hypothyrodisim; painless; +/-goiter
rock-hard, fixed, painless goiter, esophageal compression or hypoparathyroidism
Age at onset(yr)
Children, 20-40
20-60
All ages, peak 30-50
30-60
ESR
High
High
Normal
Normal
Thyroid
Usually euthyroidism
Early thyrotoxicosis, then hypothyroidism
Hypothyroidism
Usually euthyroidism
24-hr 123I uptake
Cold lesion
Low RAI uptake
Variable
Low or normal
Pathological findings
Abscess formation
Giant cells, granulomas
Lymphocytic infiltration, germinal centers, fibrosis
Dense fibrosis
