Relative exchangeable copper: a promising tool for family screening in Wilson disease.
Mov Disord
; 29(4): 558-62, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24375554
ABSTRACT
BACKGROUND:
Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.METHODS:
Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.RESULTS:
Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.CONCLUSIONS:
Exchangeable copper appears to be a promising tool for family screening in Wilson disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cobre
/
Degeneração Hepatolenticular
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Adolescent
/
Adult
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Child
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Child, preschool
/
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
França