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苯丙酮尿症筛查——值得吗?

PKU screening-is it worth it?

出版信息

Can Med Assoc J. 1973 Feb 3;108(3):328-9.

PMID:4691095
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1941175/
Abstract

Ontario's program for PKU screening of newborn infants reached 94.5% of the newborn population from 1966 to 1971. There were 70 infants identified by the program, 47 of whom were classical cases and 23 atypical cases of phenylketonuria. The incidence was 1:16,700 live births for classical cases and 1:34,000 live births for atypical cases. Since the beginning of the program 44 children have been identified in infancy as having PKU and have been treated successfully. Retardation has become evident in only three infants, two of whom were missed by the screening program.The cost of identification and care of one child for five years is about $7000, much less than the $250,000 needed to provide lifetime institutional care for one severely retarded individual.

摘要

安大略省的新生儿苯丙酮尿症筛查项目在1966年至1971年间覆盖了94.5%的新生儿。该项目共筛查出70名婴儿,其中47例为典型苯丙酮尿症病例,23例为非典型病例。典型病例的发病率为每16,700例活产中有1例,非典型病例的发病率为每34,000例活产中有1例。自该项目启动以来,已有44名儿童在婴儿期被确诊患有苯丙酮尿症并得到了成功治疗。只有三名婴儿出现了智力迟钝的症状,其中两名在筛查项目中被漏检。一名儿童五年的鉴定和护理费用约为7000美元,远低于为一名严重智力迟钝者提供终身机构护理所需的25万美元。

相似文献

1
PKU screening-is it worth it?苯丙酮尿症筛查——值得吗?
Can Med Assoc J. 1973 Feb 3;108(3):328-9.
2
Phenylketonuria variants in Ontario.安大略省的苯丙酮尿症变体
Can Med Assoc J. 1976 Sep 18;115(6):509-12.
3
Detection of phenylketonuria by the newborn screening program in Thailand.泰国新生儿筛查项目对苯丙酮尿症的检测。
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Phenylketonuria. Experience at one center in the first year of screening in California.苯丙酮尿症。加利福尼亚州筛查第一年某中心的经验。
Calif Med. 1968 May;108(5):350-4.
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[20-year national screening for phenylketonuria in The Netherlands. National Guidance Commission PKU].[荷兰为期20年的苯丙酮尿症全国筛查。全国苯丙酮尿症指导委员会]
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The incidence of phenylketonuria in Thailand.泰国苯丙酮尿症的发病率。
J Med Assoc Thai. 1989 Sep;72(9):516-9.
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[Results of a nine-year phenylketonuria (PKU) screening (author's transl)].九年苯丙酮尿症(PKU)筛查结果(作者译)
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Newborn screening for hereditary metabolic disorders in Manitoba, 1965-1970.1965 - 1970年曼尼托巴省遗传性代谢疾病的新生儿筛查。
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Phenylketonuria detected by the neonatal screening program in Thailand.泰国新生儿筛查项目检测出的苯丙酮尿症。
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引用本文的文献

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Prioritising the application of genomic medicine.优先考虑基因组医学的应用。
NPJ Genom Med. 2017 Nov 21;2:35. doi: 10.1038/s41525-017-0037-0. eCollection 2017.
2
'The checkup': why, what, when, how.“体检”:为何、检查什么、何时检查以及如何检查。
Can Fam Physician. 1977 Jun;23:74-7.
3
Newborn screening in North America.北美地区的新生儿筛查。
J Inherit Metab Dis. 2007 Aug;30(4):447-65. doi: 10.1007/s10545-007-0690-z. Epub 2007 Jul 23.
4
Secondary analysis of economic data: a review of cost-benefit studies of neonatal screening for phenylketonuria.经济数据的二次分析:苯丙酮尿症新生儿筛查成本效益研究综述
J Epidemiol Community Health. 1999 Mar;53(3):179-86. doi: 10.1136/jech.53.3.179.