Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.
复制标题
DOI：
10.1002/jimd.12163
复制
发表时间：
2020-03
影响因子：
4.2
通讯作者：
Carling RS
中科院分区：
文献类型：
--
作者：
Moat SJ;Schulenburg-Brand D;Lemonde H;Bonham JR;Weykamp CW;Mei JV;Shortland GS;Carling RS
血液苯丙氨酸分析是监测苯丙酮尿症患者和与年龄相关的苯丙氨酸靶向治疗的核心--推荐范围(0-12岁；120-360μμ/L和12岁；120-600 Mol/L)，以防止不良的神经后果。这些靶向治疗范围基于血浆苯丙氨酸浓度。然而，由于收集方便，患者通常使用干血斑(DBS)样本进行监测。血浆和DBS中的苯丙氨酸浓度存在显著差异，流动注射分析串联质谱仪分析DBS样品中的苯丙氨酸浓度比离子交换色谱法分析的配对血浆浓度低18%~28%。考虑到报道的28%的差异，苯丙氨酸浓度为360和600μ摩尔/L的DBS样品，在临界目标治疗范围阈值下的血浆当量将分别为461和768μ摩尔/L。此外，分析测试的不精确度和偏差，以及应用于滤纸采集设备以产生DBS样本的血液体积和质量等分析前因素，都会影响最终的测试结果。在将DBS结果与基于血浆浓度的目标治疗范围进行比较时，报告不准确的患者结果，加上实验室间的不准确，可能会对患者管理产生重大影响，导致不适当的饮食改变和潜在的不利患者结果。本综述旨在对血液样本中苯丙氨酸的测定相关问题提供展望，并为PKU患者未来的需求提供方向，以确保使用目标治疗范围对代谢控制进行可靠的监测。
Analysis of blood phenylalanine is central to the monitoring of patients with phenylketonuria (PKU) and age-related phenylalanine target treatment-ranges (0–12 years; 120–360 μmol/L, and >12 years; 120–600 μmol/L) are recommended in order to prevent adverse neurological outcomes. These target treatment-ranges are based upon plasma phenylalanine concentrations. However, patients are routinely monitored using dried bloodspot (DBS) specimens due to the convenience of collection. Significant differences exist between phenylalanine concentrations in plasma and DBS, with phenylalanine concentrations in DBS specimens analyzed by flow-injection analysis tandem mass spectrometry reported to be 18% to 28% lower than paired plasma concentrations analyzed using ion-exchange chromatography. DBS specimens with phenylalanine concentrations of 360 and 600 μmol/L, at the critical upper-target treatment-range thresholds would be plasma equivalents of 461 and 768 μmol/L, respectively, when a reported difference of 28% is taken into account. Furthermore, analytical test imprecision and bias in conjunction with pre-analytical factors such as volume and quality of blood applied to filter paper collection devices to produce DBS specimens affect the final test results. Reporting of inaccurate patient results when comparing DBS results to target treatment-ranges based on plasma concentrations, together with inter-laboratory imprecision could have a significant impact on patient management resulting in inappropriate dietary change and potentially adverse patient outcomes. This review is intended to provide perspective on the issues related to the measurement of phenylalanine in blood specimens and to provide direction for the future needs of PKU patients to ensure reliable monitoring of metabolic control using the target treatment-ranges.
登录
查看更多内容
影响因子：
9.3
作者：
George, Roanna S.;Moat, Stuart J.
通讯作者：
Moat, Stuart J.
影响因子：
3.5
作者：
Hall EM;Flores SR;De Jesús VR
通讯作者：
De Jesús VR
影响因子：
2.9
作者：
Lawson, A. J.;Bernstone, L.;Hall, S. K.
通讯作者：
Hall, S. K.
影响因子：
6.8
作者：
Corte, Zoraida;Venta, Rafael
通讯作者：
Venta, Rafael
影响因子：
5.2
作者：
BELTON, NR;CROMBIE, JD;FARQUHAR, JW
通讯作者：
FARQUHAR, JW