MovDisordV3, PubMed, Corpus, bibRecord, 002293

Late onset Wilson's disease: therapeutic implications.

Identifieur interne : 002293 ( PubMed/Corpus ); précédent : 002292; suivant : 002294

Late onset Wilson's disease: therapeutic implications.

Auteurs : Anna Członkowska ; Maria Rodo ; Grazyna Gromadzka

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18311837

English descriptors

KwdEn :
- Age of Onset, Aged, Aged, 80 and over, Biological Markers (blood), Ceruloplasmin (analysis), Female, Hepatolenticular Degeneration (blood), Hepatolenticular Degeneration (diagnosis), Hepatolenticular Degeneration (genetics), Humans, Male, Siblings.
MESH :
- chemical , analysis : Ceruloplasmin.
- chemical , blood : Biological Markers.
- blood : Hepatolenticular Degeneration.
- diagnosis : Hepatolenticular Degeneration.
- genetics : Hepatolenticular Degeneration.
- Age of Onset, Aged, Aged, 80 and over, Female, Humans, Male, Siblings.

Abstract

The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84-year-old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser-Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy?

DOI: 10.1002/mds.21985
PubMed: 18311837

Links to Exploration step

pubmed:18311837

Le document en format XML

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<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
<affiliation><nlm:affiliation>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rodo, Maria" sort="Rodo, Maria" uniqKey="Rodo M" first="Maria" last="Rodo">Maria Rodo</name>
</author>
<author><name sortKey="Gromadzka, Grazyna" sort="Gromadzka, Grazyna" uniqKey="Gromadzka G" first="Grazyna" last="Gromadzka">Grazyna Gromadzka</name>
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<author><name sortKey="Rodo, Maria" sort="Rodo, Maria" uniqKey="Rodo M" first="Maria" last="Rodo">Maria Rodo</name>
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<author><name sortKey="Gromadzka, Grazyna" sort="Gromadzka, Grazyna" uniqKey="Gromadzka G" first="Grazyna" last="Gromadzka">Grazyna Gromadzka</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term>
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<term>Ceruloplasmin (analysis)</term>
<term>Female</term>
<term>Hepatolenticular Degeneration (blood)</term>
<term>Hepatolenticular Degeneration (diagnosis)</term>
<term>Hepatolenticular Degeneration (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Siblings</term>
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<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Ceruloplasmin</term>
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<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Biological Markers</term>
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<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Hepatolenticular Degeneration</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
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<front><div type="abstract" xml:lang="en">The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84-year-old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser-Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy?</div>
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<Month>05</Month>
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<DateCompleted><Year>2008</Year>
<Month>08</Month>
<Day>06</Day>
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<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>23</Volume>
<Issue>6</Issue>
<PubDate><Year>2008</Year>
<Month>Apr</Month>
<Day>30</Day>
</PubDate>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Late onset Wilson's disease: therapeutic implications.</ArticleTitle>
<Pagination><MedlinePgn>896-8</MedlinePgn>
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<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.21985</ELocationID>
<Abstract><AbstractText>The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84-year-old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser-Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy?</AbstractText>
<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
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<AffiliationInfo><Affiliation>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</Affiliation>
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<Author ValidYN="Y"><LastName>Rodo</LastName>
<ForeName>Maria</ForeName>
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<Author ValidYN="Y"><LastName>Gromadzka</LastName>
<ForeName>Grazyna</ForeName>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002570">Ceruloplasmin</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006527">Hepatolenticular Degeneration</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName>
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Movement Disorders (revue)

Late onset Wilson's disease: therapeutic implications.

Late onset Wilson's disease: therapeutic implications.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki