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Kim JA, Kim HJ, Cho JM, et al. Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease. Pediatr Gastroenterol Hepatol Nutr. 2015;18(3):187-92doi: 10.5223/pghn.2015.18.3.187.
Kim, J. A., Kim, H. J., Cho, J. M., Oh, S. H., Lee, B. H., Kim, G. H., Choi, J. H., Kim, K. M., & Yoo, H. W. (2015). Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease. Pediatric gastroenterology, hepatology & nutrition, 18(3), 187-92. https://doi.org/10.5223/pghn.2015.18.3.187
Kim, Jung Ah, et al. "Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease." Pediatric gastroenterology, hepatology & nutrition vol. 18,3 (2015): 187-92. doi: https://doi.org/10.5223/pghn.2015.18.3.187
Kim JA, Kim HJ, Cho JM, Oh SH, Lee BH, Kim GH, Choi JH, Kim KM, Yoo HW. Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease. Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):187-92. doi: 10.5223/pghn.2015.18.3.187. Epub 2015 Sep 25. PMID: 26473139; PMCID: PMC4600703.
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Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):187-92. doi: 10.5223/pghn.2015.18.3.187. Epub 2015 Sep 25.

Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease.

Pediatric gastroenterology, hepatology & nutrition

Jung Ah Kim, Hyun Jin Kim, Jin Min Cho, Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo

Affiliations

  1. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  2. Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

PMID: 26473139 PMCID: PMC4600703 DOI: 10.5223/pghn.2015.18.3.187

Abstract

PURPOSE: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured through hepatitis screening in both adults and children. Herein, we evaluated the diagnostic value of ceruloplasmin for the diagnosis of WD among children with hepatitis.

METHODS: We retrospectively reviewed data on serum ceruloplasmin levels measured as a serologic marker for patients with hepatitis at Asan Medical Center (Seoul, Korea) between from January 2004 to November 2013. The diagnosis of WD was confirmed by the identification of pathogenic variants in the ATP7B gene. To determine the diagnostic accuracy of ceruloplasmin, receiver operation characteristic (ROC) curves were constructed and the area under curve (AUC) were calculated.

RESULTS: Measurements of serum ceruloplasmin were performed in 2,834 children who had hepatitis. Among these, 181 (6.4%) children were diagnosed with WD. The sensitivity, specificity, and accuracy of a ceruloplasmin level of <20 mg/dL in the discrimination of WD were 93.4%, 84.2%, and 84.8%, respectively. In this study, 418 (14.7%) false-positive cases and 12 (0.4%) false-negative cases were noted. Using a ROC curve, a ceruloplasmin level of ≤16.6 mg/dL showed the highest AUC value (0.956) with a sensitivity of 91.2%, a specificity of 94.9%, and an accuracy of 94.7%.

CONCLUSION: The measurement of serum ceruloplasmin was frequently used for the screening of WD in children, despite a low positive rate. The diagnostic value of ceruloplasmin may be strengthened by adopting a new lower cut-off level.

Keywords: Accuracy; Ceruloplasmin; Child; Genetic diagnosis; Hepatitis

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