目的：回顾性分析肝豆状核变性的临床表型和生存期特点,加强对该疾病早期诊断及相关预后的了解。方法：收集上海交通大学医学院附属瑞金医院2003年1月至2020年7月106例肝豆状核变性患者的一般信息、临床表现及辅助检查资料,回顾性分析其临床特点、辅助检查及生存期。结果：106例患者平均发病年龄（20.65±13.06）岁,30岁前发病者占81.1%;临床分型中,肝型70例（66.0%）,脑型13例（12.3%）,混合型23例（21.7%）;角膜色素环（Kayser-Fleischer ring,K-F环）阳性患者62例（58.5%）,各型间差异无统计学意义;血铜蓝蛋白降低者92例（86.8%）,均≤200 mg/L;进行24 h尿铜检测者11例,其中10例>100 μg;仅13例患者有明确基因检测结果,其中11例检测到致病性突变,7例患者同时存在2个突变,最常见突变位点为p.Arg778Leu。截至2020年12月1日随访44例,7例死亡,最常见死因为肝衰竭,平均生存期（485.48±13.61）个月。结论：肝豆状核变性多于青少年起病,以肝损害和神经系统损害为主要临床表现,随访患者中最常见死因为肝衰竭。

Objective To analyze clinical phenotype and survival analysis of hepatolenticular degeneration to promote its early detection, diagnosis, and treatment, and improve the understanding of the disease. Methods Total 106 patients with hepatolenticular degeneration were enrolled and their demographic information, clinical manifestations,auxiliary examination, and survival information were collected and analyzed retrospectively. Results The average age of 106 patients was(20.65±13.06) years, and 81.1% of patients were younger than 30 years old. Regarding of the clinical phenotype of hepatolenticular degeneration, there were 70 cases(66.0%) of liver type, 13 cases(12.3%) of brain type, 0 case of other type, and 23 cases (21.7%) of mixed type. Sixty-two cases (58.5%) had Kayser-Fleischer (K-F) ring, while its distribution had no difference in all types. Among 94 patients who received detection, only 2 cases had normal level of ceruloplasmin, and the others showed decreased levels of it, which were less than 200 mg/L. Urine copper within 24 h was detected in 11 patients, of which the value of it in 10 cases were more than 100 μg. Only 13 patients had definite gene test results, which showed 11 patients had mutations, 7 patients had double mutations, and the most common mutation site was p.Arg778Leu. Follow up with 44 cases, 7 cases were dead from hepatic failure and pulmonary infection. Conclusions Hepatolenticular degeneration occurs in many adolescents, and its’ main clinical manifestations were liver damage and nervous system symptoms. The diagnosis of hepatolenticular degeneration is mainly based on K-F ring, abnormal copper metabolism index and liver function, and abnormal imaging of liver and head. The most common cause of death was liver failure.