Aoki Kikumaro
Kagawa Nutrition University, Saitama, Japan.
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:80.
In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according to law. A new activity involving screening for Wilson disease now necessitates taking dried blood specimens from children 1-3 years old.
20世纪70年代，政府开始采取措施治疗先天性疾病。1977年10月，日本全国开始进行大规模新生儿筛查，以检测包括苯丙酮尿症、枫糖尿症、同型胱氨酸尿症、组氨酸血症和半乳糖血症在内的五种先天性代谢缺陷。1979年，先天性甲状腺功能减退症的大规模筛查被纳入原项目。1989年，增加了先天性肾上腺皮质增生症的筛查，1992年，组氨酸血症的筛查被停止。目前，筛查涵盖六种疾病。政府最初支付筛查测试费用的一半，2001年提高到全额费用（约3000日元）。家长支付样本采集费用。该项目依法实施。一项涉及威尔逊病筛查的新活动现在需要采集1至3岁儿童的干血标本。
