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Article: Wilson's disease: A patient undiagnosed for 18 years

TitleWilson's disease: A patient undiagnosed for 18 years
Authors
KeywordsAdenosinetriphosphatase/genetics
Ceruloplasmin
Copper/metabolism
Hepatolenticular degeneration
Liver diseases
Issue Date2006
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2006, v. 12 n. 2, p. 154-158 How to Cite?
AbstractWilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson's disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson's disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 μmol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 μmol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson's disease in children younger than 1 year.
Persistent Identifierhttp://hdl.handle.net/10722/45388
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorFan, STen_HK
dc.contributor.authorLiu, CLen_HK
dc.contributor.authorLam, CWen_HK
dc.date.accessioned2007-10-30T06:24:24Z-
dc.date.available2007-10-30T06:24:24Z-
dc.date.issued2006en_HK
dc.identifier.citationHong Kong Medical Journal, 2006, v. 12 n. 2, p. 154-158en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45388-
dc.description.abstractWilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson's disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson's disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 μmol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 μmol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson's disease in children younger than 1 year.en_HK
dc.format.extent306688 bytes-
dc.format.extent711321 bytes-
dc.format.extent4923 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectAdenosinetriphosphatase/geneticsen_HK
dc.subjectCeruloplasminen_HK
dc.subjectCopper/metabolismen_HK
dc.subjectHepatolenticular degenerationen_HK
dc.subjectLiver diseasesen_HK
dc.subject.meshDiagnostic Errorsen_HK
dc.subject.meshGenetic Screeningen_HK
dc.subject.meshHepatolenticular Degeneration - blood - diagnosis - geneticsen_HK
dc.subject.meshCeruloplasmin - metabolismen_HK
dc.subject.meshInfant, Newbornen_HK
dc.titleWilson's disease: A patient undiagnosed for 18 yearsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=12&issue=2&spage=154&epage=158&date=2006&atitle=Wilson%27s+disease:+a+patient+undiagnosed+for+18+yearsen_HK
dc.identifier.emailFan, ST: stfan@hku.hken_HK
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityFan, ST=rp00355en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid16603785-
dc.identifier.scopuseid_2-s2.0-33646471701en_HK
dc.identifier.hkuros116853-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33646471701&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume12en_HK
dc.identifier.issue2en_HK
dc.identifier.spage154en_HK
dc.identifier.epage158en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK
dc.identifier.scopusauthoridFan, ST=7402678224en_HK
dc.identifier.scopusauthoridLiu, CL=7409789712en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK

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