PURPOSE: Wilson disease (WD) is an autosomal recessively inherited disorder of copper accumulation and toxicity. Its recognition is easy in the presence of typical clinical presentations. Unexplained liver test abnormalities are a diagnostic challenge and require more examinations. The objective of this study is to assess the diagnostic value of ceruloplasmin, 24-hour urine copper excretion and Leipzig scoring system in WD.
MATERIAL AND METHODS: Sixty-five patients with WD (22 females and 43 males) and control group of 17 patients with other chronic liver diseases (CLD) were analyzed. The values of the parameters of copper metabolism and Leipzig scoring system were evaluated.
RESULTS: Average ceruloplasmin level was under 0,2 g/L and 24-hour urinary copper concentration was increased. D-penicillamine challenge test showed a mean value of 17,4 µmol/24 hours of urinary copper excretion in WD patients versus 5,46 µmol/24 hours in CLD ones. According to the Leipzig scoring diagnostic criteria, 58 WD patients (89,23% of the cases) presented with a score ≥4 (maximal value of 12). Score 3 was found out in seven patients, however, the exclusion of other etiology and the clinical course of the disease confirmed the diagnosis. The control subjects presented with a score ≤3 as it was ≤2 in 76,5% of the cases.
CONCLUSION: Our results confirm the diagnostic value for WD of the Leipzig scoring system combined with clinical symptoms, laboratory parameters of copper metabolism, genetic testing and liver biopsy in clinical practice.
Brewer, G. J. Recognition, diagnosis, and management of Wilson`s disease.- Proc. Soc. Exp. Biol. Med. 2000; 223(1): 39-46.
Das, S. K., K. Ray. Wilson`s disease: an update.- Nat. Clin. Pract. Neurol. 2006; 2(9): 482-493.
EASL Clinical Practice Guidelines:Wilson`s disease.- J. Hepatol. 2012; 56(3): 671-685.
Ferenci, P., K. Caca, G. Loudianos, G. MieliVergani, S. Tanner, I. Sternlieb, et al. Diagnosis and phenotypic classification of Wilson disease.- Liver Int. 2003;23(3): 139-142.
Foruny, J. R., D. Boixeda, A. L. Sanroman, E.V. Sequeros, M. Villafruela, M. V. Romero, et al. Usefulness of penicillamine-stimulated urinary copper excretion in the diagnosis of adult Wilson`s disease.- Scand. J. Gastroenterol. 2008;43(5): 597-603.
Kolarski, V. Wilson`s disease.- In: Hepatology. Sofia, Tilia. 1998; 441-454 (in Bulgarian).
Mahjob, F., R. Fereiduni, I. Jahanzad, F. Farahmand, M. Monajemzadeh, M. Najafi.
Atomic absorption spectrometry in Wilson`s disease and its comparison with other laboratory tests and paraclinical findings.- Iran. J. Pediatr. 2012;22(1): 52-56.
Mansoor, S., A. K. Naveed, A. Majeed. Analysis of clinical and biochemical spectrum of Wilson disease patients.- Indian J. Pathol. Microbiol., 2012; 55(3): 365-369.
Martins da Costa, C., D. Baldwin, B. Portmann, Y. Lolin, A.P. Mowat, G. Mieli- Vergani. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson`s disease. Hepatology. 1992;15(4); 609-615.
Mateva, L. Wilson`s disease.- In: Internal medicine. Ed. by Z. Krastev. Sofia. 2004;272-273 (in Bulgarian).
Merle, U., M. Schaefer, P. Ferenci, W. Stremmel. Clinical presentation, diagnosis and long-term outcome of Wilson`s disease: a cohort study. Gut. 2007;56(1): 115-120.
Moores, A., S. Fox, A. Lang, G. M. Hirschfield. Wilson disease: Canadian perspectives on presentation and outcomes from adult ambulatory setting. Can. J. Gastroenterol. 2012;26(6): 333-339.
Muller, T., S. Koppikar, R. Taylor, F. Carragher, B. Schlenck, P. Hainz-Erian, et al. Re-evaluation of the penicillamine challenge test in the diagnosis
of Wilson`s disease in children. J. Hepatol. 2007;47(2): 270-276.
Nicastro, E., G. Ranucci, P. Vajro, A. Vegnente, R. Iorio. Re-evaluation of diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology. 2010;52(2): 1948-1956.
Roberts, E. A., M. L. Schilsky. Diagnosis and treatment of Wilson disease: An update. Hepatology. 2008;47(6): 2089-2111.
Rozencrantz, R., M. L. Schilsky. Wilson disease. Pathogenesis and clinical considerations in diagnosis and treatment. Semin. Liver Dis. 2011;31(3): 245-259.
Shah, R., M. Piper. Wilson disease. eMedicine Specialties, Gastroenterology, Systemic Disease. Updated, August 25, 2009.
Walshe, J. M. The pattern of urinary copper excretion and its response to treatment in patients with Wilson`s disease. Q. J. Med. 2011;104(9): 775-778.
Walshe, J. M. Serum `free` copper in Wilson disease. Q. J. Med. 2012;105(5): 419-423.
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