关键词: 肝豆状核变性, 铜代谢, 临床分型, 临床特点

Abstract: Objective To investigate the clinical features of patients with Wilson’s disease（WD） in different clinical classification. Methods Clinical data of 256 inpatients with WD were collected retrospectively. The patients were then divided into liver type,cerebral type and mixed type according to their major clinical presentations and the differences in clinical features of patients in each group were further analyzed. Results Among 256 patients with WD,patients with mixed type （152 cases,59.4%） and liver type（74cases,28.9%）were the common type as compared to cerebral type （27cases,10.5%） or other subtypes（3 cases,1.2%）. The ratio of patients with decompensated cirrhosis and the levels of various liver serum biochemical parameters （ALT,AST,ALP,GGT,BIL and GLB） in patients with liver type （78.4%） were higher than in patient with mixed type （22.0%,P<0.05）. Serum copper in patients with liver type [（1.04±1.50）mg/L] were lower than patients with cerebra type [（2.96±2.88） mg/L] and mixed type [（2.34±2.68）mg/L,P<0.001],but no difference in serum ceruloplasmin level and 24-h urinary copper excretion between the two groups（P>0.05）. The positive ratio of Kayser-Fleischer rings in patients with liver type （64.9%） was lower than in patients with cerebral type （92.6%） and mixed type （90.1%,P<0.05）. A logistic regression analysis showed that age （OR 0.922,P=0.014） and serum ceruloplasmin level （OR=35902.1,P=0.015） were related to the presence of Kayser-Fleischer rings. Only 3（9.7%） out of 31 patients with WD with liver type developed into mixed type during the average follow-up of（8.3±5.8） years. Conclusions Mixed and liver type are more common in patients with WD,and liver dysfunction is more severe in patients with liver type than in mixed type,suggesting that the liver is the most common target in WD.

Key words: Wilson’, s disease, Copper metabolism, Clinical classification, Clinical features