Newborn screening for metabolic diseases: Saving children's lives and improving outcomes
Newborn screening for metabolic diseases: Saving children's lives and improving outcomes
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DOI：
10.1016/j.clinbiochem.2014.05.010
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发表时间：
2014-06-01
影响因子：
2.8
通讯作者：
Bennett, Michael J.
中科院分区：
文献类型：
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作者：
Bennett, Michael J.
新生儿代谢性疾病筛查最初是在20世纪60年代引入的，当时有一个早期诊断苯丙酮尿症的项目。在筛查中引入其他条件的准则要求，这种条件足够常见，值得筛查，可以治疗，诊断费用不高。筛查中增加的其他条件包括先天性甲状腺功能减退症和先天性肾上腺皮质增生症。中链酰基辅酶A脱氢酶缺乏症的认识加上串联质谱作为诊断工具的出现，允许将更多的条件纳入筛选程序，其中一些不符合最初的纳入标准。本报告将讨论新生儿代谢性疾病筛查的现状，并报告通过筛查确定的患者的临床结局指标。(C)2014年加拿大临床化学家协会。爱思唯尔公司出版All rights reserved.
Newborn screening for metabolic diseases was initially introduced in the 1960s with a program for the early diagnosis of phenylketonuria. Guidelines for the introduction of additional conditions to the screen required that the condition was sufficiently common to merit screening, that it was treatable and that the cost of diagnosis was not prohibitive. Additional conditions added to the screen included congenital hypothyroidism and congenital adrenal hyperplasia. The recognition of medium-chain acyl0CoA dehydrogenase deficiency coupled to the advent of tandem mass spectrometry as a diagnostic tool allowed for the inclusion of many more conditions into screening programs, some of which do not fit the original criteria for inclusion. This presentation will discuss the current state of newborn screening for metabolic diseases and report on clinical outcome measures of patients identified by screening. (C) 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.