儿童肝豆状核变性诊断难点问题及其对策

Diagnostic difficulties in children's Wilson's disease and their countermeasures

肝豆状核变性是儿童最为常见并可治疗的常染色体隐性遗传病,其基因突变类型多变而复杂,临床表型千变万化。不典型患者难以识别或易被忽略。本文结合临床实际问题,从临床诊断要素、诊断思路和诊断难点问题及其对策三个方面进行阐述。

Hepatolenticular degeneration, also called Wilson＇ s disease, is one of the most common and manageable autosomal recessive genetic disease in children. The types of gene mutation of this disease are diverse and the clinical manifestations are variable. Atypical patients are difficult to recognize and easy to be neglected. Three aspects of Wilson＇ s disease including clinical diagnostic key points, diagnostic thinking and countermeasures for diagnostic difficulties, combined with the clinical practical problems, will be discussed in this paper.