Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Kroll, Charles; Ferber, Matthew J.; Dawson, B.; Jacobson, Robert M.; Mensink, Kara A.; Lorey, Fred; Sherwin, John E.; Cunningham, George C.; Rinaldo, Piero; Matern, Dietrich

doi:10.1016/j.ymgme.2006.03.008

Cited by 52 publications

(35 citation statements)

References 18 publications

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“…The disease frequency is highly variable, and WD is seen more frequently in Sardinia, China, Japan, and other Asian populations (2)(3)(4)(5)(6)(7)(8)(9). Underdiagnosis of WD is highly likely, especially during the asymptomatic phase and in patients with atypical presentations.…”

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confidence: 99%

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

2008

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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 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.

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confidence: 99%

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

2008

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“…Linearity was established between 20 and 95 mg/dL (200 and 950 mg/L), with correlation coefficient (R 2 ) Ն0.98. Stability of DBS was tested previously, and long-term stability was observed in specimens maintained at Ϫ20°C for years (11 ).…”

Section: Validation Resultsmentioning

confidence: 99%

“…Patient samples used for method correlation were the same as in a previous study (7,11 ). Protein extraction, reduction, and digestion were performed in a single step.…”

Section: Sample Preparationmentioning

confidence: 99%

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening

et al. 2008

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BACKGROUND: Newborn screening to identify infants with treatable congenital disorders is carried out worldwide. Recent tandem mass spectrometry (MS/ MS) applications have markedly expanded the ability to screen for Ͼ50 metabolic diseases with a single dried blood spot (DBS). The feature that makes metabolic disorders particularly amenable to screening is the presence of specific small-molecule metabolites. Many treatable disorders such as Wilson disease, however, are characterized by absent or diminished large proteins in plasma or within circulating blood cells, for which there are currently no cost-effective screening methods.

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“…If father is bi chance heterozygous, chance of fetal affection is 50% [1].This new-born needed screening as the paternal status was unknown. Measurement of ceruloplasmin level in Guthrie dried blood spots of new-born had been advised, which they could not afford at that time [5]. However a negative blood or urine screening of a new born do not entirely rule out the disease process and a repeat screening should be advised at two to fi ve years of age [1].…”

Section: Discussionmentioning

confidence: 99%

Pregnancy in a woman with Wilson's disease treated with zinc: A case report

Bhattacharyya

Saha

Samanta

et al. 2012

Korean J Obstet Gynecol

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Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

Cited by 52 publications

References 18 publications

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

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

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening

Pregnancy in a woman with Wilson's disease treated with zinc: A case report

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