关键词: 肝豆状核变性, 临床分型, ATP7B基因, 儿童

Abstract: Objective　To investigate the clinical characteristics and gene analysis of hepatolenticular degeneration （WD） in children.Methods　The clinical data of 70 WD children were analyzed retrospectively，who were treated in sheng jing Hospital of China Medical University from Jan.2011 to Jun.2021.Results　Among the 70 cases，there were 41 males and 29 females.The median age at diagnosis was 6 years old.The first symptoms were abnormal liver function found during physical examination.Among the different clinical phenotypes，the onset age of livertype children was small and their transaminase level was high.Neurotype children showed a high positive rate of eye K-F ring，microscopic hematuria，on diffuse liver injury and cirrhosis abdominal ultrasound，typical head MRI changes，and high urine copper level at 24 hours，the differences being statistically significant（P＜0.05）.ATP7B gene sequencing was performed in 41 children，and a total of 31 different types of mutation were found.The most common allelic mutation was p.R778L，and the allele frequency was 44.87%.The level of culoplasmin in children with p.R778L mutation was significantly reduced；there were 3 cases of fulrninant liver failure，and the allelic genes had LOF mutation，the difference being statistically significant（P＜0.05）.Conclusion　The onset of WD in children is mostly liver lesions；there are no clinical symptoms in the early stage of the disease，and only abnormal liver function can be found on physical examination.ATP7B gene test is helpful for early clinical diagnosis and prognosis evaluation of children highly suspected with WD.

Key words: hepatolenticular degeneration, clinical typing, ATP7B gene, child