17例肝豆状核变性病例分析  

Clinical analysis of 17 cases of hepatolenticular degeneration

作　　者：张丽静[1] 余保平[1] 蒲鹏[2] 

机构地区：[1]武汉大学人民医院消化内科,湖北武汉430060 [2]武汉大学人民医院心血管内科,湖北武汉430060

出　　处：《胃肠病学和肝病学杂志》2011年第2期156-157,共2页Chinese Journal of Gastroenterology and Hepatology

摘　　要：目的探讨肝豆状核变性的临床特点,加深对该病的认识,提高早期诊断率。方法回顾性分析17例肝豆状核变性患者的临床资料。结果 17例患者(其中3例有明确的家族遗传史)平均发病年龄为(25.3±8.1)岁。其中10例以神经精神症状为主,6例以消化系统症状为主,1例表现为溶血性贫血。17例患者中13例K-F环阳性(76.5%),8例患者头颅MR I检查发现异常(47.1%),7例出现不同程度的转氨酶升高(41.2%),绝大部分出现血清铜和铜蓝蛋白含量减低。结论肝豆状核变性青少年多见,以神经系统和肝损害为主要表现,血清铜、铜蓝蛋白降低,角膜K-F环阳性是其重要改变。Objective To investigate the manifestation of hepatolenticular degeneration,and improve the early diagnosis of this disease. Methods Seventeen cases of hepatolenticular degeneration were analyzed retrospectively.Results Three cases had a familial inheritance.Ten cases mainly presented neuropsychical disorder,and 6 cases presented digestive system symptom,and 1 case presented hemolyticanemia.In the 17 cases,13 patients（76.5%） had K-F rings.Eight cases 47.1% examining MRI of the brain were detected structural abnormalities.Seven cases（41.2%） had aminotransferases rising to varying degrees.Most patients decreased levels of serum copper and ceruloplasmin.Conclusion Hepatolenticular degeneration often occurs in adolescent,characterized by neurologic disease and liver injury.Decreased serum copper,Ceruloplasmin and Kayser-Fleischer rings are important characteristics.

关 键 词：肝豆状核变性 临床表现 血清铜 铜蓝蛋白 青霉胺 

分 类 号：R575.24[医药卫生—消化系统]