Calculated parameters for the diagnosis of Wilson disease
Introduction: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR)...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer – Medknow Publications
2023-03-01
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| Series: | Singapore Medical Journal |
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| Online Access: | https://journals.lww.com/10.11622/smedj.2022019 |
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| _version_ | 1823861480547680256 |
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| author | Nada Syazana Zulkufli Pavai Sthaneshwar Wah-Kheong Chan |
| author_facet | Nada Syazana Zulkufli Pavai Sthaneshwar Wah-Kheong Chan |
| author_sort | Nada Syazana Zulkufli |
| collection | DOAJ |
| description | Introduction:
The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD.
Methods:
A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation.
Results:
Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels <0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (P < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances.
Conclusion:
Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin <0.14 g/L was better than that of <0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD. |
| format | Article |
| id | doaj-art-8611ea6861124d2a854c2aa96e6fdaab |
| institution | Kabale University |
| issn | 0037-5675 2737-5935 |
| language | English |
| publishDate | 2023-03-01 |
| publisher | Wolters Kluwer – Medknow Publications |
| record_format | Article |
| series | Singapore Medical Journal |
| spelling | doaj-art-8611ea6861124d2a854c2aa96e6fdaab2025-02-09T13:46:08ZengWolters Kluwer – Medknow PublicationsSingapore Medical Journal0037-56752737-59352023-03-0164318819510.11622/smedj.2022019Calculated parameters for the diagnosis of Wilson diseaseNada Syazana ZulkufliPavai SthaneshwarWah-Kheong ChanIntroduction: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD. Methods: A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation. Results: Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels <0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (P < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances. Conclusion: Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin <0.14 g/L was better than that of <0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD.https://journals.lww.com/10.11622/smedj.2022019caeruloplasmindiscriminant functionfree coppernon-caeruloplasmin copperwilson disease |
| spellingShingle | Nada Syazana Zulkufli Pavai Sthaneshwar Wah-Kheong Chan Calculated parameters for the diagnosis of Wilson disease Singapore Medical Journal caeruloplasmin discriminant function free copper non-caeruloplasmin copper wilson disease |
| title | Calculated parameters for the diagnosis of Wilson disease |
| title_full | Calculated parameters for the diagnosis of Wilson disease |
| title_fullStr | Calculated parameters for the diagnosis of Wilson disease |
| title_full_unstemmed | Calculated parameters for the diagnosis of Wilson disease |
| title_short | Calculated parameters for the diagnosis of Wilson disease |
| title_sort | calculated parameters for the diagnosis of wilson disease |
| topic | caeruloplasmin discriminant function free copper non-caeruloplasmin copper wilson disease |
| url | https://journals.lww.com/10.11622/smedj.2022019 |
| work_keys_str_mv | AT nadasyazanazulkufli calculatedparametersforthediagnosisofwilsondisease AT pavaisthaneshwar calculatedparametersforthediagnosisofwilsondisease AT wahkheongchan calculatedparametersforthediagnosisofwilsondisease |