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Liver Int. 2011 Jan;31(1):83-91. doi: 10.1111/j.1478-3231.2010.02354.x. Epub 2010 Oct 20.

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

Author information

1
4th Department of Internal Medicine, 1st Faculty of Medicine, Charles University in Prague, General Teaching Hospital, Prague, Czech Republic. bruha@cesnet.cz

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.

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).

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).

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.

[Indexed for MEDLINE]

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