A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method.
A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method.
复制标题
使用ATP硫酶方法的儿童中血浆焦磷酸血浆水平的参考范围。
DOI：
10.1210/clinem/dgab615
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发表时间：
2022-01-01
期刊：
影响因子：
--
通讯作者：
Rutsch F
中科院分区：
文献类型：
--
作者：
Bernhard E;Nitschke Y;Khursigara G;Sabbagh Y;Wang Y;Rutsch F
婴儿全身性动脉钙化、弹性纤维性假黄瘤、常染色体隐性遗传性低磷酸盐血症佝偻病2型和低磷酸盐血症是与血浆无机焦磷酸盐（PPi）水平改变相关的罕见遗传性疾病。在本研究中，我们旨在建立儿科人群血浆PPi的参考范围，这对于支持其作为矿化障碍儿童的生物标志物至关重要。从200名1天至18岁的儿童中采集血浆样本，这些儿童接受了血液检测，以确定不影响血浆PPi水平的医疗条件。采用经验证的三磷酸腺苷（ATP）硫酸化酶法测定先证者血浆中的PPi。ATP硫酸化酶试验的分析灵敏度为0.15 - 10 µM PPi。相同样品的批间和批内变异系数低于10%。0至18岁儿童和青少年血浆中PPi的标准范围计算为2.36至4.44 µM，中位数为3.17 µM，男性和女性先证者之间无差异。PPi血浆水平在不同儿童年龄组中无显著差异。我们的结果与成人血浆PPi的报告标准范围（2-5 µM）没有显著差异。我们提出所描述的ATP硫酸化酶方法作为一种诊断工具，以测量血浆中的PPi水平作为儿科人群的生物标志物。
Generalized arterial calcification of infancy, pseudoxanthoma elasticum, autosomal recessive hypophosphatemic rickets type 2, and hypophosphatasia are rare inherited disorders associated with altered plasma levels of inorganic pyrophosphate (PPi). In this study, we aimed to establish a reference range for plasma PPi in the pediatric population, which would be essential to support its use as a biomarker in children with mineralization disorders. Plasma samples were collected from 200 children aged 1 day to 18 years who underwent blood testing for medical conditions not affecting plasma PPi levels. PPi was measured in proband plasma utilizing a validated adenosine triphosphate (ATP) sulfurylase method. The analytical sensitivity of the ATP sulfurylase assay consisted of 0.15 to 10 µM PPi. Inter- and intra-assay coefficients of variability on identical samples were below 10%. The standard range of PPi in the blood plasma of children and adolescents aged 0 to 18 years was calculated as 2.36 to 4.44 µM, with a median of 3.17 µM, with no difference between male and female probands. PPi plasma levels did not differ significantly in different pediatric age groups. Our results yielded no noteworthy discrepancy to the reported standard range of plasma PPi in adults (2-5 µM). We propose the described ATP sulfurylase method as a diagnostic tool to measure PPi levels in plasma as a biomarker in the pediatric population.
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