From the Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea (Yim, Kim, S.-G. Lee).
The Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea (Yim).
Arch Pathol Lab Med. 2021 Jul 1;145(7):877-882. doi: 10.5858/arpa.2020-0029-OA.
CONTEXT.—: Recently, an exchangeable copper (CuEXC) assay has been suggested as a robust and feasible diagnostic tool for Wilson disease (WD). Although WD is a disorder that requires lifelong treatment and monitoring, few data are currently available regarding the status of copper levels in children.
OBJECTIVE.—: To evaluate the performance of copper assays and establish a reference interval for total copper and CuEXC in the pediatric population.
DESIGN.—: Serum samples from children aged 1-5 (n = 122), 6-12 (n = 125), and 13-18 years (n = 120) were analyzed. Total copper and CuEXC concentrations were directly measured using inductively coupled plasma mass spectrometry, and relative CuEXC levels were calculated. Total copper reference intervals, CuEXC levels, and relative CuEXC levels were determined based on the 2.5th and 97.5th percentiles of the data with 90% confidence intervals.
RESULTS.—: There were significant differences in the median concentrations of total copper and relative CuEXC among the age groups. Reference intervals determined for total copper were 82 to 167, 75 to 139, and 64 to 133 μg/dL for children aged 1 to 5, 6 to 12, and 13 to 18 years, respectively. The reference intervals for CuEXC were 4.29 to 9.79, 4.02 to 9.09, and 3.55 to 8.25 μg/dL for children aged 1 to 5, 6 to 12, and 13 to 18 years, respectively. Among 11 patients with suspected WD, relative CuEXC values were elevated in all 3 diagnosed with WD.
CONCLUSIONS.—: The pediatric reference intervals derived in this study are expected to be useful for the diagnosis, differential diagnosis, treatment, and monitoring of pediatric patients with WD.
最近，一种可交换铜（CuEXC）检测法被认为是诊断威尔逊病（WD）的一种强大且可行的诊断工具。尽管 WD 是一种需要终身治疗和监测的疾病，但目前关于儿童铜水平状况的数据很少。
评估铜检测方法的性能，并为儿科人群建立总铜和 CuEXC 的参考区间。
分析了年龄在 1-5 岁（n=122）、6-12 岁（n=125）和 13-18 岁（n=120）的儿童的血清样本。使用电感耦合等离子体质谱法直接测量总铜和 CuEXC 浓度，并计算相对 CuEXC 水平。总铜参考区间、CuEXC 水平和相对 CuEXC 水平基于数据的第 2.5 和 97.5 百分位数，置信区间为 90%。
不同年龄组的总铜和相对 CuEXC 中位数浓度存在显著差异。确定的总铜参考区间分别为 1 至 5 岁儿童 82 至 167μg/dL、6 至 12 岁儿童 75 至 139μg/dL、13 至 18 岁儿童 64 至 133μg/dL。CuEXC 的参考区间分别为 1 至 5 岁儿童 4.29 至 9.79μg/dL、6 至 12 岁儿童 4.02 至 9.09μg/dL、13 至 18 岁儿童 3.55 至 8.25μg/dL。在 11 名疑似 WD 的患者中，3 名确诊 WD 的患者的相对 CuEXC 值均升高。
本研究得出的儿科参考区间有望为 WD 儿科患者的诊断、鉴别诊断、治疗和监测提供有用的信息。
