本文分析了40例小儿肝豆状核变性,性别发病间无明显差异;8—10岁最为多见,但因本病发病缓慢,早期症状不明显,具体发病年龄只能作为参考;有家族史者24例(占60%),其中有明确肝豆状核变性家族史者仅5例;发病至确诊的时间3个月至8年不等;本文描述了本病的主要症状、体征及实验室检查,在讨论中介绍了 Deiss 氏对本病的分期以及笔者对早期诊断的看法。 This article analyzes the 40 children with Wilson’s disease, no significant difference between the incidence of gender; 8-10 years of age the most common, but due to the slow onset of the disease, the early symptoms are not obvious, the specific age of onset can only be used as a reference; family history 24 cases (60%), of which there is a clear family history of Wilson’s disease in only 5 cases; onset to diagnosis of time ranging from 3 months to 8 years; this article describes the main symptoms of the disease, signs and experiments Room examination, in the discussion introduced Deiss’s staging of the disease and the author’s view of early diagnosis.