Bozkowa K, Cabalska B, Duczyńska N, Grodzka Z, Sendecka E, Nowakowska A, Lenartowska I, Kasperska-Dworak A, Helwich E
Probl Med Wieku Rozwoj. 1981;10:69-85.
The aim of present study was to evaluate the effectiveness of screening program for early detection of some metabolic errors in newborn population. The examinations included: early diagnostic of some amino acids and carbohydrates disturbances, cystic fibrosis and congenital hypothyreosis. Guthrie test and multidirectional urine screening test were used for the diagnostics of inborn errors in amino acids metabolism. Guthrie test for phenylalanine proved its high effectiveness and taking into account the relatively high frequency of phenylketonuria in our population this screening has been introduced as obligatory. The evaluation of pilot screening for tyrosinemia, homocystinuria and histidinemia in spite of no objections as to the tests themselves proved low frequency of these disorders in our country, sofar these tests have been abandoned. Multidirectional urine screening carried out in 6-8 weeks old infants allows for follow up control for some aminoacidopathies, and also for the detection of some transport metabolism and other metabolic errors. There is no doubt that screening tests for galactosemia should be carried out because of severe course of the disease and good results of its treatment. Problem to be discussed is the choice of screening procedure and age at which it should be performed. Cystic fibrosis being one of the most common disease in the group of metabolic disorders needs to be screened, because the detection allows for early introduction of complex palliative treatment. The comparative evaluation of three meconium tests for cystic fibrosis revealed dry paper meconium test to be the most useful and following to organize central screening center. Skin chloride system being fast and easy test is too expensive to be introduced as mass screening. Results of pilot screening study for congenital hypothyreosis point out the necessity for the mass diagnostic of this disorders. Choice of the test however is connected with economical aspects of the screening procedure.
本研究的目的是评估筛查项目在新生儿群体中早期发现某些代谢紊乱的有效性。检查项目包括：某些氨基酸和碳水化合物紊乱、囊性纤维化和先天性甲状腺功能减退的早期诊断。采用格思里试验和多向尿液筛查试验诊断氨基酸代谢先天性疾病。苯丙氨酸格思里试验证明了其高效性，鉴于我国苯丙酮尿症发病率相对较高，该筛查已被列为强制性项目。尽管对酪氨酸血症、同型胱氨酸尿症和组氨酸血症的试验本身没有异议，但对这些疾病在我国的低发病率进行的初步筛查评估表明，目前已放弃这些试验。对6 - 8周龄婴儿进行的多向尿液筛查可对某些氨基酸代谢病进行后续监测，还可检测某些转运代谢和其他代谢紊乱。毫无疑问，由于半乳糖血症病情严重且治疗效果良好，应开展相关筛查试验。有待讨论的问题是筛查程序的选择及其实施年龄。囊性纤维化是代谢紊乱组中最常见的疾病之一，需要进行筛查，因为早期发现有助于尽早开展综合姑息治疗。对三种囊性纤维化胎粪试验的比较评估表明，干纸胎粪试验最为有用，随后应设立中央筛查中心。皮肤氯检测系统虽然快速简便，但成本过高，无法作为大规模筛查项目采用。先天性甲状腺功能减退初步筛查研究结果表明有必要对该疾病进行大规模诊断。然而，检测方法的选择与筛查程序的经济因素有关。
