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苯丙酸酮尿症等先天性代谢异常是发育障碍性重症疾病,多伴有进行性智力低下,但如果于生后早期确诊并加以治疗,则可以预防,仅依据临床症状难以做出早期诊断。所以,近20年来各国的新生儿普查都是从全部新生儿采少量血涂在试纸上,通过气-液相色谱法筛选异常儿。先天性甲状腺机能减退症(呆小症)等内分泌疾病如果与上述代谢异常疾病同样,在新生儿期予以确诊治疗,则也可以预防甲状腺机能障碍,所以,研制出用放射免疫测定法(RIA)测定血液试纸上激素。但是,在测定普查一类的多数检体时,应用放射性同位素(RI)的RIA不适用,最好采用非放射性免疫测定法,其一是用酶代替RI的酶免疫测定法(EIA)。EIA法对普查新生儿呆小症最有效。
Congenital metabolic disorders such as ketoprofen, phenylpropionate and other congenital metabolic disorders are progressive degenerative disorders, often accompanied by progressive mental retardation, but if diagnosed and treated early in life can be prevented, based on clinical symptoms alone is difficult to make early diagnosis . Therefore, in recent 20 years, the newborn censuses of all countries have taken a small amount of blood from all newborns on test strips and screened for abnormalities by gas-liquid chromatography. Congenital hypothyroidism (sepsis) and other endocrine diseases such as metabolic disorders and the same disease, diagnosis and treatment of neonatal period, you can also prevent thyroid dysfunction, therefore, developed by radioimmunoassay (RIA) Determination of blood test strips of hormones. However, RIA using radioisotopes (RIs) is not suitable for the determination of most specimens in census. Non-radioactive immunoassay is the best method. One is enzyme immunoassay (EIA) using enzyme instead of RI. The EIA method is most effective in census neonates.