将总铜和易变结合铜组分作为评估威尔逊氏病的选择性和敏感性工具

IF 1.8 Q3 MEDICAL LABORATORY TECHNOLOGY Journal of Applied Laboratory Medicine Pub Date : 2024-11-04 DOI:10.1093/jalm/jfae090
Joshua A Bornhorst, Anna C Bitzer, Patrick L Day, Michelle Wermers, Carin Y Smith, Vanessa K Pazdernik, Ryan Pelto, Banu Sankaran, Adam Quicquaro, Paul J Jannetto
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引用次数: 0

摘要

背景:开发了一种测定血清游离结合铜(LBC)和LBC部分(LBC/总铜)的双滤过法。据报道,威尔逊病(WD)患者存在总铜降低、LBC 升高和 LBC 部分升高的情况:方法:为了评估这些标记物的诊断性能,从 21 例未接受 WD 治疗者(WD-TN,未接受 WD 治疗或结果)中采集了样本:参照人群与 WD-TN 的接收器操作特征曲线显示,总铜、LBC 和 LBC 分数的曲线下面积分别为 0.99、0.81 和 0.98。使用 Youden 临界值,WD-TN 对总铜的敏感性/特异性为 95%/97%,对 LBC 的敏感性/特异性为 71%/85%,对 LBC 部分的敏感性/特异性为 95%/94%。我们提出了一种双重模型,即总铜和低密度脂蛋白胆固醇(LBC)的结果必须一致,才能被归类为 WD 的 "阳性 "或 "阴性 "结果。这样,19/21 例 WD-TN 患者被正确分类为阳性,194/213 例参照区间患者被正确分类为阴性。其余的 "不确定 "患者(约占参照组和 WD-TN 组的 9%)的总铜和低密度脂蛋白胆固醇分数结果相互矛盾。排除不确定的结果后,该模型的灵敏度/特异性明显达到 100%:结论:血清总铜和低密度脂蛋白胆固醇分类结果一致,可有效评估 WD-TN 患者的 "纳入规则 "和 "排除规则"。
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Total Copper and Labile Bound Copper Fraction as a Selective and Sensitive Tool in the Evaluation of Wilson Disease.

Background: A dual filtration-based method for determination of serum labile bound copper (LBC) and LBC fraction (LBC/total copper) was developed. Reduced total copper, elevated LBC, and elevated LBC fraction have been reported in Wilson disease (WD).

Methods: To evaluate the diagnostic performance of these markers, samples were obtained from 21 WD treatment-naïve (WD-TN, no WD treatment or <28 days of treatment) patients, 46 WD standard-of-care-treated (WD-SOC) patients, along with 246 patients representing other potential disorders of copper status. These were then compared to 213 reference interval population patients.

Results: Receiver operating characteristic curves for the reference population vs WD-TN yielded areas under the curve for total copper, LBC, and LBC fraction, of 0.99, 0.81, and 0.98, respectively. Using Youden cutoffs, sensitivity/specificity for WD-TN was 95%/97% for total copper, 71%/85% for LBC, and 95%/94% for LBC fraction. LBC values, but not total copper and LBC fraction, differed substantially between WD-TN and WD-SOC cohorts.We propose a dual model wherein total copper and LBC fraction results must agree to be classified as a "positive" or "negative" result for WD. This correctly classified 19/21 WD-TN patients as positive, and 194/213 reference interval patients as negative. The remaining "indeterminate" patients (representing approximately 9% of the reference and the WD-TN populations) exhibited conflicting total copper and LBC fraction results. When indeterminate results are excluded, this model exhibited apparent 100% sensitivity/specificity.

Conclusions: Agreement of total serum copper and LBC fraction classification may constitute an effective "rule-in" and "rule-out" assessment for WD-TN patients.

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来源期刊
Journal of Applied Laboratory Medicine
Journal of Applied Laboratory Medicine MEDICAL LABORATORY TECHNOLOGY-
CiteScore
3.70
自引率
5.00%
发文量
137
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