不列颠哥伦比亚省对新生儿进行半乳糖血症筛查。
Screening of newborn infants for galactosemia in British Columbia.
作者信息
Kirby L T, Norman M G, Applegarth D A, Hardwick D F
出版信息
Can Med Assoc J. 1985 May 1;132(9):1033-5.
With simple microbiologic and fluorescent tests, we detected two cases of classic galactosemia, confirmed by specific enzyme assays, in the first 25 000 newborn infants in British Columbia screened for this disorder. The results were equivocally abnormal for another 31 infants, and a second blood sample was requested from each, either for repeat screening or for enzyme assays. The two infants with galactosemia were in hospital with an undiagnosed acute illness and had only a trace of non-glucose reducing substances in the urine when the screening tests were done. Screening for galactosemia fits well with our established programs of screening for phenylketonuria and hypothyroidism and costs less than $1 per infant tested.
通过简单的微生物学和荧光测试，我们在不列颠哥伦比亚省最初接受这种疾病筛查的25000名新生儿中，检测出两例经特定酶测定确诊的典型半乳糖血症病例。另有31名婴儿的检测结果异常情况不明确，于是要求为每人采集第二份血样，用于重复筛查或酶测定。两名患有半乳糖血症的婴儿当时因未确诊的急性疾病住院，在进行筛查测试时，其尿液中只有微量非葡萄糖还原性物质。半乳糖血症筛查与我们既定的苯丙酮尿症和甲状腺功能减退症筛查项目非常契合，每位接受检测的婴儿成本不到1美元。
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