Olivier Guillaud1,2, Anne-Sophie Brunet1,3, Isabelle Mallet1,4, Jérôme Dumortier1,2,5, Martine Pelosse1,3, Sophie Heissat1,3, Christine Rivet1,3, Alain Lachaux1,3,5, Muriel Bost1,4,6. 1. French National Reference Center for Wilson Disease, Femme Mère Enfant Hospital, Hospices civils de Lyon, Bron, France. 2. Department of Hepatogastroenterology, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France. 3. Department of Pediatric Hepatogastroenterology and Nutrition, Femme mère enfant Hospital, Hospices Civils de Lyon, Bron, France. 4. Department of Biochemistry and Molecular biology, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France. 5. University Claude Bernard Lyon 1, Lyon, France. 6. Department of Molecular Genetics and Genetic Diseases of Metabolism, Department of Biology and Pathology, Hospices Civils de Lyon, Bron, France.
Abstract
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patients with chronic liver diseases. METHODS: Measuring of exchangeable serum copper levels and relative exchangeable copper was performed in a group of Wilson disease patients at diagnosis or at clinical deterioration because of non-compliance (group 1, n=9), a group of stable WD patients (group 2, n=40), and two groups of patients (adult and paediatric) followed for non-Wilsonian liver diseases (group 3, n=103 and group 4, n=49 respectively). RESULTS: Exchangeable serum copper (N: 0.6-1.1 μmol/L) was significantly higher in group 1 (mean 2.2±0.7 μmol/L) compared to the other three groups: group 2=0.9±0.4 μmol/L, group 3=1.2±0.4 μmol/L, group 4=1.1±0.3 μmol/L (P<0.05). Relative exchangeable copper was significantly higher in Wilson disease patients group 1 and 2 (mean 52.6% and 43.8%) compared to patients suffering from other liver diseases (mean 7.1% and 5.9%) (P<0.05). CONCLUSIONS: Our study confirms that the determination of relative exchangeable copper is a highly valuable tool for the diagnosis of Wilson disease.
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patients with chronic liver diseases. METHODS: Measuring of exchangeable serum copper levels and relative exchangeable copper was performed in a group of Wilson diseasepatients at diagnosis or at clinical deterioration because of non-compliance (group 1, n=9), a group of stable WDpatients (group 2, n=40), and two groups of patients (adult and paediatric) followed for non-Wilsonian liver diseases (group 3, n=103 and group 4, n=49 respectively). RESULTS: Exchangeable serum copper (N: 0.6-1.1 μmol/L) was significantly higher in group 1 (mean 2.2±0.7 μmol/L) compared to the other three groups: group 2=0.9±0.4 μmol/L, group 3=1.2±0.4 μmol/L, group 4=1.1±0.3 μmol/L (P<0.05). Relative exchangeable copper was significantly higher in Wilson diseasepatients group 1 and 2 (mean 52.6% and 43.8%) compared to patients suffering from other liver diseases (mean 7.1% and 5.9%) (P<0.05). CONCLUSIONS: Our study confirms that the determination of relative exchangeable copper is a highly valuable tool for the diagnosis of Wilson disease.
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