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Total and Exchangeable Copper Assay Using Inductively Coupled Plasma Mass Spectrometry and Establishment of a Pediatric Reference Interval

 Jisook Yim  ;  Soo Beom Kwon  ;  Jung Sun Han  ;  Jeong-Ho Kim  ;  Eun Hee Lee  ;  Sang-Guk Lee 
 ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, Vol.145(7) : 877-882, 2021-07 
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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.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jeong Ho(김정호) ORCID logo https://orcid.org/0000-0003-2479-0548
Lee, Sang-Guk(이상국) ORCID logo https://orcid.org/0000-0003-3862-3660
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