Hill A, Casey R, Zaleski W A
Clin Chim Acta. 1976 Oct 1;72(1):1-15. doi: 10.1016/0009-8981(76)90032-2.
A review of factors which may be responsible for false positive and false negative results in a screening program for the detection of inborn errors of metabolism is presented. Administration of medication, dietary therapy, chemical treatment of specimens, delay in analysis, hypersensitivity of procedures utilized, interfering metabolites and inadequate metabolic development or enzymatic maturation in the patient may all produce results resembling an actual inborn error of metabolism. Inadequate nutritional intake prior to procurement of specimen and loss of material during analytical procedures may produce false negative results. As well, certain less severe variants of inborn errors may present in an unusual manner or may only present during periods of stress to the patient. These factors are discussed in relation to the performance of a metabolic screening program. It is suggested that these progrms should be performed by specialized, central laboratories experienced in the complexities of detection of inborn errors of metabolism.
本文综述了在先天性代谢缺陷筛查项目中可能导致假阳性和假阴性结果的因素。用药、饮食治疗、标本化学处理、分析延迟、所用检测方法的高敏感性、干扰代谢物以及患者代谢发育或酶成熟不足等都可能产生类似先天性代谢缺陷的结果。采集标本前营养摄入不足以及分析过程中物质损失可能导致假阴性结果。此外，某些不太严重的先天性代谢缺陷变异型可能以不寻常的方式出现，或者仅在患者处于应激状态时出现。文中结合代谢筛查项目的实施对这些因素进行了讨论。建议这些项目应由在先天性代谢缺陷检测复杂性方面经验丰富的专业中央实验室来开展。
