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Article: Diagnosis of Wilson's disease: A comprehensive review

TitleDiagnosis of Wilson's disease: A comprehensive review
Authors
Issue Date2008
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/10408363.asp
Citation
Critical Reviews In Clinical Laboratory Sciences, 2008, v. 45 n. 3, p. 263-290 How to Cite?
AbstractWilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B. The worldwide prevalence is about 1 in 30,000, which may vary by population. Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening. Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean. Diagnosis relies on a high clinical suspicion, typical neurological symptoms, presence of Kayser-Fleischer rings, and reduced serum ceruloplasmin concentration. The conventional value of < 0.20 g/l is not a universal diagnostic value. Age of the subjects and analytical variations should be considered when interpreting these levels. Patients with inconclusive findings require further investigations such as 24 h urinary free-copper excretion, penicillamine challenge test, liver copper measurement, and detection of gene mutations. Direct molecular diagnosis remains the most decisive tool. Other tests such as non-ceruloplasmin-bound copper are unreliable. Potential pitfalls and limitations of these diagnostic markers are critically reviewed in this paper. The mainstays of therapy are trientine, penicillamine, and/or zinc. Liver transplantation is lifesaving for those with advanced disease. Ceruloplasmin oxidase activity and serum free-copper concentration should be monitored in patients on long-term de-coppering therapy to prevent iatrogenic copper deficiency. Copyright © 2008 Informa Healthcare USA, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148569
ISSN
2015 Impact Factor: 4.167
2015 SCImago Journal Rankings: 1.668
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:13:47Z-
dc.date.available2012-05-29T06:13:47Z-
dc.date.issued2008en_US
dc.identifier.citationCritical Reviews In Clinical Laboratory Sciences, 2008, v. 45 n. 3, p. 263-290en_US
dc.identifier.issn1040-8363en_US
dc.identifier.urihttp://hdl.handle.net/10722/148569-
dc.description.abstractWilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B. The worldwide prevalence is about 1 in 30,000, which may vary by population. Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening. Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean. Diagnosis relies on a high clinical suspicion, typical neurological symptoms, presence of Kayser-Fleischer rings, and reduced serum ceruloplasmin concentration. The conventional value of < 0.20 g/l is not a universal diagnostic value. Age of the subjects and analytical variations should be considered when interpreting these levels. Patients with inconclusive findings require further investigations such as 24 h urinary free-copper excretion, penicillamine challenge test, liver copper measurement, and detection of gene mutations. Direct molecular diagnosis remains the most decisive tool. Other tests such as non-ceruloplasmin-bound copper are unreliable. Potential pitfalls and limitations of these diagnostic markers are critically reviewed in this paper. The mainstays of therapy are trientine, penicillamine, and/or zinc. Liver transplantation is lifesaving for those with advanced disease. Ceruloplasmin oxidase activity and serum free-copper concentration should be monitored in patients on long-term de-coppering therapy to prevent iatrogenic copper deficiency. Copyright © 2008 Informa Healthcare USA, Inc.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/10408363.aspen_US
dc.relation.ispartofCritical Reviews in Clinical Laboratory Sciencesen_US
dc.subject.meshAdenosine Triphosphatases - Geneticsen_US
dc.subject.meshCation Transport Proteins - Geneticsen_US
dc.subject.meshCeruloplasmin - Analysis - Deficiency - Metabolismen_US
dc.subject.meshCopper - Blood - Metabolism - Urineen_US
dc.subject.meshHepatolenticular Degeneration - Diagnosis - Genetics - Therapyen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.titleDiagnosis of Wilson's disease: A comprehensive reviewen_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.doi10.1080/10408360801991055en_US
dc.identifier.pmid18568852en_US
dc.identifier.scopuseid_2-s2.0-45849096470en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-45849096470&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume45en_US
dc.identifier.issue3en_US
dc.identifier.spage263en_US
dc.identifier.epage290en_US
dc.identifier.isiWOS:000256671300001-
dc.publisher.placeUnited Kingdomen_US

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