P0207 EVALUATION OF NON-INVASIVE TESTS??? SENSITIVITY IN DIAGNOSIS OF WILSON DISEASE IN CHILDREN

Abstract

Introduction: Wilson disease (WD) is an autosomal recessive disorder disturbing copper metabolism. The responsible gene (ATP7B) coding membrane-bound copper-binding proteine is situated on chromosome 13 q14–q21. The diagnosis of WD depends on combination of non-ivasive (ceruloplasmin, serum copper, 24h urinary copper excretion), invasive (hepatic copper) and genetic (mutation analysis) findings. Methods: 27 patients (aged 9–18, 16M, 11F) with confirmed WD were involved to the study. In 23 of them the diagnosis was confirmed by identification of two mutations of ATP7B (H1069Q was the most predominant – 42%). In 4 outstanding WD was confirmed by increased (> 250 mg/g dry weight) hepatic copper content. All but one (with hepatoneurological symptoms) suffer from liver symptoms. Results: Ceruloplasmin <20 [mg/dl], serum copper <70 [mg/dl], 24h urinary copper excretion >100 [mg/24h] were regarded as values characteristic for Wilson’s disease. The results of non-invasive tests were as follows [mean±SD; 95% CI]: ceruloplasmin 9,12±8,14; 5,60–12,64 [mg/dl], serum copper 34,69±19,83; 26,11–43,27[mg/dl], 24h urinary copper excretion 267,95±452,77; 67,20–468,70 [mg/24h]. The sensitivity of these tests were: 87% (20/23) for ceruloplasmin, 96% (22/23) for serum total copper and 73% (16/22) for 24h urinary copper excretion. None of our patients had three tests within normal ranges and one had two of three tests within normal ranges. Conclusion: 1. Serum total copper seems to have the highest sensitivity. 2. The sensivities of ceruloplasmin and 24h urinary copper excretion are too low to be used as screening tests 3. Evaluation of all three non-invasive tests in differential diagnosis of liver disease is recommended.