Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting.

ABSTRACT:

Background

Wilson disease (WD) is a rare disorder of copper metabolism.

Objective

To describe the authors' clinical experience with a cohort of 48 adult patients followed in an ambulatory setting.

Methods

A retrospective chart review of patients with a diagnosis of WD was performed.

Results

Fifty-nine charts were identified and 11 were excluded on further review. At diagnosis, 14 patients were asymptomatic, with 13 hepatic, 15 neurological and six mixed hepatic⁄neurological presentations. Ceruloplasmin levels were low (<0.20 g⁄L) in 94%, and 24 h urinary copper levels high (>0.60 µmol⁄L) in 95% of cases. D-penicillamine was the most common initial therapy (48%), with zinc the most common at review (65%). Overall, biopsy and ultrasound reports documented cirrhos

SUBMITTER: Moores A 

PROVIDER: S-EPMC3378279 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature