Late onset Wilson's disease: Therapeutic implications
Identifieur interne : 002792 ( Main/Exploration ); précédent : 002791; suivant : 002793Late onset Wilson's disease: Therapeutic implications
Auteurs : Anna Członkowska [Pologne] ; Maria Rodo [Pologne] ; Gra Yna Gromadzka [Pologne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cuivre.
English descriptors
- KwdEn :
- Age of Onset, Aged, Aged, 80 and over, Biological Markers (blood), Ceruloplasmin (analysis), Copper, Female, Genotype, Hepatolenticular Degeneration (blood), Hepatolenticular Degeneration (diagnosis), Hepatolenticular Degeneration (genetics), Humans, Male, Nervous system diseases, Phenotype, Siblings, Treatment, Wilson disease, Wilson's disease, genotype, late onset, phenotype, treatment.
- 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? © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21985
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003584
- to stream Istex, to step Curation: 003584
- to stream Istex, to step Checkpoint: 001348
- to stream PubMed, to step Corpus: 002293
- to stream PubMed, to step Curation: 002293
- to stream PubMed, to step Checkpoint: 002243
- to stream Ncbi, to step Merge: 002068
- to stream Ncbi, to step Curation: 002068
- to stream Ncbi, to step Checkpoint: 002068
- to stream Main, to step Merge: 003370
- to stream PascalFrancis, to step Corpus: 001251
- to stream PascalFrancis, to step Curation: 001A68
- to stream PascalFrancis, to step Checkpoint: 001213
- to stream Main, to step Merge: 003821
- to stream Main, to step Curation: 002792
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Late onset Wilson's disease: Therapeutic implications</title>
<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
</author>
<author><name sortKey="Rodo, Maria" sort="Rodo, Maria" uniqKey="Rodo M" first="Maria" last="Rodo">Maria Rodo</name>
</author>
<author><name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6</idno>
<date when="2008" year="2008">2008</date>
<idno type="doi">10.1002/mds.21985</idno>
<idno type="url">https://api.istex.fr/document/5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003584</idno>
<idno type="wicri:Area/Istex/Curation">003584</idno>
<idno type="wicri:Area/Istex/Checkpoint">001348</idno>
<idno type="wicri:doubleKey">0885-3185:2008:Czlonkowska A:late:onset:wilson</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:18311837</idno>
<idno type="wicri:Area/PubMed/Corpus">002293</idno>
<idno type="wicri:Area/PubMed/Curation">002293</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002243</idno>
<idno type="wicri:Area/Ncbi/Merge">002068</idno>
<idno type="wicri:Area/Ncbi/Curation">002068</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002068</idno>
<idno type="wicri:Area/Main/Merge">003370</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:08-0251883</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001251</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001A68</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001213</idno>
<idno type="wicri:doubleKey">0885-3185:2008:Czlonkowska A:late:onset:wilson</idno>
<idno type="wicri:Area/Main/Merge">003821</idno>
<idno type="wicri:Area/Main/Curation">002792</idno>
<idno type="wicri:Area/Main/Exploration">002792</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Late onset Wilson's disease: Therapeutic implications</title>
<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Experimental and Clinical Pharmacology, Medical University, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rodo, Maria" sort="Rodo, Maria" uniqKey="Rodo M" first="Maria" last="Rodo">Maria Rodo</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Genetics, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Experimental and Clinical Pharmacology, Medical University, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-04-30">2008-04-30</date>
<biblScope unit="vol">23</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="896">896</biblScope>
<biblScope unit="page" to="898">898</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6</idno>
<idno type="DOI">10.1002/mds.21985</idno>
<idno type="ArticleID">MDS21985</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<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>Copper</term>
<term>Female</term>
<term>Genotype</term>
<term>Hepatolenticular Degeneration (blood)</term>
<term>Hepatolenticular Degeneration (diagnosis)</term>
<term>Hepatolenticular Degeneration (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
<term>Siblings</term>
<term>Treatment</term>
<term>Wilson disease</term>
<term>Wilson's disease</term>
<term>genotype</term>
<term>late onset</term>
<term>phenotype</term>
<term>treatment</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Ceruloplasmin</term>
</keywords>
<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>
<term>Siblings</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Cuivre</term>
<term>Génotype</term>
<term>Maladie de Wilson</term>
<term>Pathologie du système nerveux</term>
<term>Phénotype</term>
<term>Traitement</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cuivre</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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? © 2008 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Pologne</li>
</country>
</list>
<tree><country name="Pologne"><noRegion><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
</noRegion>
<name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
<name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name>
<name sortKey="Gromadzka, Gra Yna" sort="Gromadzka, Gra Yna" uniqKey="Gromadzka G" first="Gra Yna" last="Gromadzka">Gra Yna Gromadzka</name>
<name sortKey="Rodo, Maria" sort="Rodo, Maria" uniqKey="Rodo M" first="Maria" last="Rodo">Maria Rodo</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002792 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002792 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6 |texte= Late onset Wilson's disease: Therapeutic implications }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |