Late onset Wilson's disease: therapeutic implications.
Identifieur interne : 002293 ( PubMed/Curation ); précédent : 002292; suivant : 002294Late onset Wilson's disease: therapeutic implications.
Auteurs : Anna Członkowska [Pologne] ; Maria Rodo ; Grazyna GromadzkaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- 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
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pubmed:18311837Le 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 wicri:level="1"><nlm:affiliation>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
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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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<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>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Biological Markers (blood)</term>
<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>
</keywords>
<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>
</keywords>
<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<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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<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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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
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