Biochemical diagnosis of Wilson's disease: an update
Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic per...
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| Published in: | Advances in laboratory medicine Vol. 3; no. 2; pp. 103 - 113 |
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| Format: | Journal Article |
| Language: | English |
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01-06-2022
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| Abstract | Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the
gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs. |
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| AbstractList | Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the
ATP7B
gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs. Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs.Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs. Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs. Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory comments. At present, a rapid, simple, reliable biochemical test that confirms diagnosis of WD is not available. However, diagnosis can be established based on serum ceruloplasmin and urinary copper excretion. Total serum copper should be employed with caution, since it has a low negative predictive value. The use of estimated non-ceruloplasmin-bound copper is not recommended. Nevertheless, measured relative exchangeable copper has very high sensitivity and specificity and emerges as a potential gold standard for the biochemical diagnosis of WD. The development of novel assays for WD detection makes this disorder a potential candidate to be included in newborn screening programs. |
| Author | Bauça, Josep Miquel Martínez-Morillo, Eduardo |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37361868$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1021/acs.jproteome.6b00828 10.1111/eci.13147 10.1080/10408363.2020.1781778 10.1111/j.1478-3231.2005.01072.x 10.1111/ene.13171 10.1111/liv.14678 10.1097/MPG.0000000000001787 10.1002/mds.21693 10.3390/diagnostics11020282 10.1002/hep.23910 10.1007/s00216-009-2809-6 10.1080/14740338.2021.1956460 10.1002/mds.21201 10.1016/j.cca.2011.08.019 10.1002/ncp.10328 10.1007/s12519-010-0023-4 10.21037/atm.2019.03.02 10.1136/jclinpath-2019-206054 10.1373/clinchem.2015.240903 10.1373/clinchem.2004.040154 10.1016/j.cca.2018.01.037 10.33176/AACB-18-00014 10.5858/arpa.2020-0029-OA 10.1053/j.gastro.2021.02.052 10.1016/j.chemosphere.2019.03.171 10.1177/0004563216676843 10.1002/hep.22261 10.1016/j.ncl.2020.01.005 10.1111/nyas.12423 10.1373/clinchem.2018.298927 10.1038/ncpneuro0291 10.1111/liv.13520 10.4254/wjh.v13.i6.634 10.1016/j.clinbiochem.2015.10.003 10.1002/cld.1041 10.1034/j.1600-0676.2003.00824.x 10.1016/j.jtemb.2016.02.006 10.1007/s00216-021-03517-y 10.1016/j.labcli.2017.06.004 10.1111/liv.14263 10.4254/wjh.v5.i3.156 10.1016/j.jhep.2011.11.007 10.1136/jnnp-2021-326123 10.1002/14651858.CD012267.pub2 10.1373/clinchem.2005.052688 10.1002/ncp.10582 10.5582/irdr.2017.01057 10.1002/hep.28560 10.1007/s00439-020-02161-3 10.1002/hep.22446 10.1016/j.jtemb.2007.11.001 10.1002/mds.25763 10.21037/atm.2019.02.10 |
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| Keywords | ceruloplasmin copper Wilson’s disease ATP7B gene |
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| Snippet | Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the
gene. This condition is characterized by the accumulation of... Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation... Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation... Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation... |
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| Title | Biochemical diagnosis of Wilson's disease: an update |
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