关键词: 肝豆状核变性, 诊断, 同胞, 影响因素, 临床表型

Abstract: Objective To study the clinical features of patients with Wilson's disease with different clinical phenotypes in one pedigree. To make the diagnosis and summarize the factors influencing the clinical manifestations of patients with Wilson's disease. Methods The clinical data of siblings in this pedigree were collected.The literature about the factors influencing the clinical phenotype of Wilson's disease were found. Results There were two siblings in one pedigree with Wilson's disease.The younger brother whose phenotype is liver-type，was 6 years old. His brother was 16 years old and showed mixed type (nerve + kidney) . Their genotype are exon5.c.1714delG (maternal), exon8.c.2333G> T, p.R778L (paternal). They have the same genotype but different phenotypes and different age of onset. After reviewing the literature,Some factors outside the ATP7B gene may also affect the clinical phenotype. Conclusions Genetic testing is of great importance in children with WD. Screening for hepatolenticular degeneration should be performed in children with liver disease or neurological manifestations.In addition to the ATP7B gene,the clinical phenotype of hepatolenticular degeneration may also be affected by many other factors.

Key words: Key words: Wilson disease, diagnosis, siblings, factors, phenotype