Diagnostic Accuracy of Serum Ceruloplasmin in Wilson Disease: Determination of Sensitivity and Specificity by ROC Curve Analysis among ATP7B-Genotyped Subjects

• Published in: Clinical chemistry (Baltimore, Md.) Vol. 54; no. 8; pp. 1356 - 1362
• Main Authors: Mak, Chloe M, Lam, Ching-Wan, Tam, Sidney
• Format: Journal Article
• Language: English
• Published: Washington, DC Am Assoc Clin Chem 01.08.2008; American Association for Clinical Chemistry; Oxford University Press
• Subjects: Adenosine Triphosphatases - genetics; Adolescent; Adult; Analytical, structural and metabolic biochemistry; Biological and medical sciences; Cation Transport Proteins - genetics; Ceruloplasmin - analysis; Chelation therapy; Child; Child, Preschool; Copper-transporting ATPases; Deoxyribonucleic acid; DNA; False Negative Reactions; False Positive Reactions; Fundamental and applied biological sciences. Psychology; Gallbladder diseases; Genotype; Genotypes; Hepatolenticular Degeneration - blood; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Humans; Investigative techniques, diagnostic techniques (general aspects); Local population; Medical sciences; Methods; Middle Aged; Mutation; Patients; Predictive Value of Tests; Reference Values; Reproducibility of Results; ROC Curve; Sensitivity and Specificity; Studies; Ceruloplasmin; Human; Ferroxidase; Nervous system diseases; Wilson disease; Enzyme; Curve; Metabolic diseases; Biochemistry; Enzymopathy; Genetic disease; Accuracy; Sensitivity; Specificity; Clinical biology; Digestive diseases; Serum; Oxidoreductases; Diagnosis; Molecular biology; Copper

Background: A serum ceruloplasmin concentration below 0.20 g/L is conventionally considered as one of the major diagnostic criteria for Wilson disease. This decision threshold has not been fully validated for its diagnostic characteristics, however. In this study, we evaluated various decision thres...