50例肝豆状核变性临床分析

目的探索肝豆状核变性的临床特点,为早期诊断提供依据。方法我院1988～2008年收治的50例肝豆状核变性患者,对其临床表现,实验室检查及CT和MRI检查进行分析。结果铜代谢异常损害以肝脑为主。结论青少年患者以肝硬化、贫血、骨骼畸形、锥体外系损伤临床表现为首发症状,无常见病因可寻,应考虑到本病的可能,尽早进行检查,以便能早期确诊及时治疗。

Firty cases of clinical analysis of hepatolenticular degeneration

Objective Exploration of hepatolenticular degeneration clinical diagnosis and treatment characteristics,in order to address the diagnosis and provide the basis for early diagnosis.Methods Selected from our hospital from 1988 to 2008 treated 50 cases of hepatolenticular degeneration patients,its clinical manifestations,laboratory examinations,CT and MRI examination for analysis.Results Copper metabolism of brain damage to the liver-based.Conclusion Adolescent patients with the first symptoms of liver cirrhosis,anemia,skeletal deformities and extrapyramidal clinical manifestations,no common cause could be found,should take into account the possibility of this disease as soon as possible to inspect early diagnosis and timely treatment.