Abstract: Objective To explore the clinical features of patients with Wilson’s disease and hyperbilirubinemia. Method Twenty-four patients with Wilson’s disease and twenty-eight with chronic hepatitis B of severe degree were included in this study. The manifestation and routine laboratory tests were collected. The peripheral blood ATP7B gene mutations in exon 8， 12， 13 and 16 were analyzed by direct sequencing. Results The patients with WD had the features of significantly younger（33.2 vs. 41.8 yr old，P=0.049），longer delay diagnosis time（8.2 vs. 1 month，P<0.001） as compared to patients with hepatitis B；the total urine copper in 24 hours was significantly elevated [（919.83±1017.15） μg vs. （204.79±191.85） μg，P<0.001]；the patients with WD had significantly higher serum glutamyltranspeptidase level [（175.74±245.99） U/L] as compared with in patients with hepatitis B[（133.44±115.95） U/L，P=0.004]，which had a positive correlation with 24 hours total urine copper drainage（r=0.552，P=0.012）；all the patients with WD were positive for ATP7B mutation，while only 4 patients with hepatitis B positive. Conclusion Serum copper and ceruloplasmin levels may be useful for screening patients with WD and jaundice，and the 24 hour urine copper excretion is an important index for differential diagnosis from severe chronic hepatitis B.

Key words: Wilson’s Disease, Hyperbilirubinemia, Clinical features, Differential diagnosis