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目的:观察24例肝豆状核变性的临床表现。方法:回顾性分析24例肝豆状核变性患者的临床资料。结果:发病年龄(16.2±8.1)岁,首发症状以神经系统症状和消化系统症状为主,分别占62.5%和25.0%,以肢体震颤和肝损害多见。患者均出现血清铜和铜蓝蛋白含量减低、24h尿铜含量升高及角膜色素环阳性;66.7%患者D-青霉胺等治疗有效。结论:肝豆状核变性青少年多发,以神经和消化系统为主要表现;血清铜,铜蓝蛋白,尿铜及角膜色素环是其特征性改变。
Objective: To observe the clinical manifestations of hepatolenticular degeneration in 24 cases. Methods: The clinical data of 24 patients with hepatolenticular degeneration were retrospectively analyzed. Results: The onset age (16.2 ± 8.1) years old, the first symptom of neurological symptoms and digestive system symptoms, accounting for 62.5% and 25.0%, respectively, to limb tremor and liver damage more common. Patients with lower levels of serum copper and ceruloplasmin, urinary copper content increased 24h and corneal pigment ring positive; 66.7% of patients treated with D-penicillamine and other effective. Conclusions: Wilson’s disease is predominant in adolescents with neurodegeneration and digestive system. Serum copper, ceruloplasmin, urinary copper and corneal pigment ring are characteristic changes.