Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children

Backgrounds/Aims A urinary copper (Cu) >25 μmol/24 h following penicillamine had a reported specificity of 98.2% and sensitivity of 88.2% in diagnosing Wilson’s disease (WD). We have re-evaluated this test. Ninety-eight subjects were studied at presentation. Methods Thirty-eight (19 girls, 19 boy...

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Published in:Journal of hepatology 2007-08, Vol.47 (2), p.270-276
Main Authors: Müller, Thomas, Koppikar, Smita, Taylor, Rachel M, Carragher, Fiona, Schlenck, Barbara, Heinz-Erian, Peter, Kronenberg, Florian, Ferenci, Peter, Tanner, Stuart, Siebert, Uwe, Staudinger, Roland, Mieli-Vergani, Giorgina, Dhawan, Anil
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Bones, joints and connective tissue. Antiinflammatory agents
Ceruloplasmin - metabolism
Chelating Agents
Child
Child, Preschool
Circadian Rhythm
Copper
Copper - blood
Copper - metabolism
Copper - urine
Diagnostic Techniques, Digestive System - standards
DNA Mutational Analysis
Female
Gastroenterology and Hepatology
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - metabolism
Hepatolenticular Degeneration - pathology
Humans
Liver
Liver - metabolism
Liver - pathology
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Other metabolic disorders
Penicillamine
Pharmacology. Drug treatments
Sensitivity and Specificity
Wilson’s disease
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Summary:Backgrounds/Aims A urinary copper (Cu) >25 μmol/24 h following penicillamine had a reported specificity of 98.2% and sensitivity of 88.2% in diagnosing Wilson’s disease (WD). We have re-evaluated this test. Ninety-eight subjects were studied at presentation. Methods Thirty-eight (19 girls, 19 boys; median age 10.3 years; range 5–16 years) had an ultimate diagnosis of WD. Sixty (24 girls, 36 boys; median age 10.1, range 2.3–15 years) had other liver disorders. Urinary Cu was estimated for 24 h before (basal Cu) and for 24 h whilst giving penicillamine 500 mg orally 12 hourly × 2 (post-penicillamine Cu). Results Both basal Cu and post-penicillamine Cu differed significantly between WD patients and controls (basal Cu: median 6.5 μmol/24 h, range 0.9–109 μmol/24 h, versus median: 0.8 μmol/24 h, range 0.1–19.5, p < 0.0001; post-penicillamine Cu: median 36.9 μmol/24 h, range 1.98–219 μmol/24 h, versus median 12.35 μmol/24 h, range 0.5–49.8 μmol/24 h, p < 0.0001). A post-penicillamine Cu >25 μmol/24 h was observed in 29/38 patients with WD and in 4/60 controls. 25/38 WD patients were symptomatic. Twenty-three of these and 6/13 asymptomatic siblings had a positive test. The test had a sensitivity of 76% (95% confidence interval [CI], 59.8–88.6%) and a specificity of 93% (95% CI, 83.8–98.2%). Sensitivity was better in symptomatic patients (92%, [95% CI; 74–99%]) than asymptomatic (46%, [95% CI; 19.2–74.9%]). Conclusions This test is valuable in the diagnosis of WD with active liver disease, but is unreliable to exclude the diagnosis in asymptomatic siblings.
ISSN:0168-8278
1600-0641
DOI:10.1016/j.jhep.2007.03.011