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Article: Diagnostic accuracy of serum ceruloplasmin in Wilson disease: Determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects

TitleDiagnostic accuracy of serum ceruloplasmin in Wilson disease: Determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects
Authors
Issue Date2008
PublisherAmerican Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
Citation
Clinical Chemistry, 2008, v. 54 n. 8, p. 1356-1362 How to Cite?
AbstractBACKGROUND: 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 thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals. METHODS: Serum ceruloplasmin concentration was measured by a nephelometric method in 57 Wilson disease patients and 71 family members (49 heterozygotes and 22 wild-type homozygotes), a validation group of 25 subjects clinically suspected of Wilson disease, and 690 normal individuals. We performed ROC analysis using Analyze-it software and confirmed the genotypes by direct DNA sequencing of ATP7B. RESULTS: Serum ceruloplasmin concentrations <0.20, 0.14, and 0.10 g/L showed positive predictive values of 48.3%, 100%, and 100%, respectively, and negative predictive values of 98.7%, 97.1%, and 91.9%. In the validation group, a serum ceruloplasmin threshold of 0.14 g/L rendered 100% sensitivity and specificity. Forty of 690 healthy subjects had serum ceruloplasmin concentrations <0.20 g/L; however, these 40 individuals had normal genotypes by DNA sequencing, and none of the 40 had ceruloplasmin concentrations <0.14 g/L. CONCLUSIONS: The diagnostic accuracy for Wilson disease using a serum ceruloplasmin concentration of 0.14 g/L as the local decision threshold was better than that using a threshold of 0.20 g/L. We suggest that laboratories providing ceruloplasmin assays determine decision thresholds based on local populations. © 2008 American Association for Clinical Chemistry.
Persistent Identifierhttp://hdl.handle.net/10722/148574
ISSN
2015 Impact Factor: 7.457
2015 SCImago Journal Rankings: 2.472
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorTam, Sen_US
dc.date.accessioned2012-05-29T06:13:49Z-
dc.date.available2012-05-29T06:13:49Z-
dc.date.issued2008en_US
dc.identifier.citationClinical Chemistry, 2008, v. 54 n. 8, p. 1356-1362en_US
dc.identifier.issn0009-9147en_US
dc.identifier.urihttp://hdl.handle.net/10722/148574-
dc.description.abstractBACKGROUND: 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 thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals. METHODS: Serum ceruloplasmin concentration was measured by a nephelometric method in 57 Wilson disease patients and 71 family members (49 heterozygotes and 22 wild-type homozygotes), a validation group of 25 subjects clinically suspected of Wilson disease, and 690 normal individuals. We performed ROC analysis using Analyze-it software and confirmed the genotypes by direct DNA sequencing of ATP7B. RESULTS: Serum ceruloplasmin concentrations <0.20, 0.14, and 0.10 g/L showed positive predictive values of 48.3%, 100%, and 100%, respectively, and negative predictive values of 98.7%, 97.1%, and 91.9%. In the validation group, a serum ceruloplasmin threshold of 0.14 g/L rendered 100% sensitivity and specificity. Forty of 690 healthy subjects had serum ceruloplasmin concentrations <0.20 g/L; however, these 40 individuals had normal genotypes by DNA sequencing, and none of the 40 had ceruloplasmin concentrations <0.14 g/L. CONCLUSIONS: The diagnostic accuracy for Wilson disease using a serum ceruloplasmin concentration of 0.14 g/L as the local decision threshold was better than that using a threshold of 0.20 g/L. We suggest that laboratories providing ceruloplasmin assays determine decision thresholds based on local populations. © 2008 American Association for Clinical Chemistry.en_US
dc.languageengen_US
dc.publisherAmerican Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.orgen_US
dc.relation.ispartofClinical Chemistryen_US
dc.subject.meshAdenosine Triphosphatases - Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshCation Transport Proteins - Geneticsen_US
dc.subject.meshCeruloplasmin - Analysisen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFalse Negative Reactionsen_US
dc.subject.meshFalse Positive Reactionsen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHepatolenticular Degeneration - Blood - Diagnosis - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPredictive Value Of Testsen_US
dc.subject.meshRoc Curveen_US
dc.subject.meshReference Valuesen_US
dc.subject.meshReproducibility Of Resultsen_US
dc.subject.meshSensitivity And Specificityen_US
dc.titleDiagnostic accuracy of serum ceruloplasmin in Wilson disease: Determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjectsen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1373/clinchem.2008.103432en_US
dc.identifier.pmid18556333-
dc.identifier.scopuseid_2-s2.0-48949089341en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-48949089341&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume54en_US
dc.identifier.issue8en_US
dc.identifier.spage1356en_US
dc.identifier.epage1362en_US
dc.identifier.eissn1530-8561-
dc.identifier.isiWOS:000258090100013-
dc.publisher.placeUnited Statesen_US

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