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Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
- Source :
-
Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2011 Jan; Vol. 31 (1), pp. 83-91. Date of Electronic Publication: 2010 Oct 20. - Publication Year :
- 2011
-
Abstract
- Background and Aims: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although the long-term survival has yet to be well documented. The aim of this study was to describe the long-term outcome of a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD.<br />Methods: The presence of mutations to the ATP7B gene, the clinical manifestations, treatments and the long-term outcomes were analysed retrospectively in 117 patients with WD (59 men and 58 women, aged at evaluation 38.5 ± 11, range 16-63 years).<br />Results: Fifty-five patients with a neurological presentation, 51 patients with a hepatic presentation and 11 asymptomatic patients were followed up for an average of 15.1 ± 10 years (median 12 years, range 1-41 years). The H1069Q ATP7B gene mutation was the most frequent genetic variant (54.3%); the frequency of this mutation did not differ between patients with either the hepatic or the neurological presentation (P = 0.099). d-penicillamine or zinc salts (81 and 17% respectively) were used for treatment, and three patients underwent liver transplantation. The majority of symptomatic patients became asymptomatic, or improved, during the follow-up (82% patients with hepatic presentation, 69% with neurological presentation). The long-term survival of patients with WD did not differ from that of the general Czech population (P = 0.95).<br />Conclusions: Long-term follow-up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population.<br /> (© 2010 John Wiley & Sons A/S.)
- Subjects :
- Adenosine Triphosphatases metabolism
Adolescent
Adult
Asymptomatic Diseases
Cation Transport Proteins metabolism
Chelating Agents metabolism
Chi-Square Distribution
Copper-Transporting ATPases
Czech Republic
DNA Mutational Analysis
Disease Progression
Female
Gene Frequency
Genetic Predisposition to Disease
Hepatolenticular Degeneration enzymology
Hepatolenticular Degeneration mortality
Hepatolenticular Degeneration therapy
Humans
Kaplan-Meier Estimate
Liver Transplantation
Male
Middle Aged
Penicillamine therapeutic use
Phenotype
Retrospective Studies
Time Factors
Treatment Outcome
Young Adult
Zinc Acetate therapeutic use
Zinc Sulfate therapeutic use
Adenosine Triphosphatases genetics
Cation Transport Proteins genetics
Copper metabolism
Hepatolenticular Degeneration genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1478-3231
- Volume :
- 31
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Liver international : official journal of the International Association for the Study of the Liver
- Publication Type :
- Academic Journal
- Accession number :
- 20958917
- Full Text :
- https://doi.org/10.1111/j.1478-3231.2010.02354.x