Pediatr Gastroenterol Hepatol Nutr.  2015 Sep;18(3):187-192. 10.5223/pghn.2015.18.3.187.

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

• Kim JA
• Kim HJ
• Cho JM
• Oh SH
• Lee BH
• Kim GH
• Choi JH
• Kim KM
• Yoo HW

• KMID: 2068796
• DOI: http://doi.org/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 < or =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.

Keyword

Ceruloplasmin; Genetic diagnosis; Child; Hepatitis; Accuracy

MeSH Terms

Adult
Area Under Curve
Ceruloplasmin*
Child
Chungcheongnam-do
Diagnosis*
Discrimination (Psychology)
Hepatitis
Hepatolenticular Degeneration*
Humans
Mass Screening
Retrospective Studies
ROC Curve
Sensitivity and Specificity
Ceruloplasmin

Figure

• 

  Fig. 1 A cut-off value of serum ceruloplasmin of <16.6 mg/dL showed maximal area under curve of 0.956 on the receiver operation characteristic analysis.

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