关键词: 肝豆状核变性, ATP7B基因, 临床特征, 基因突变

Abstract: Objective This study was conducted to investigate the clinical feature and gene mutation in patients with hepatolenticular degeneration (HLD). Methods 79 consecutive patients with HLD were encountered in our hospital between January 2017 and December 2022, and the basic clinical materials were retrieved. TheATP7B gene mutation was assayed by high throughput gene sequencing. Results There were 55 patients with hepatic, 12 with cerebral and 12 with mixed phonotypes in our series; the disease onset age of patients with hepatic phonotype was much younger than those with cerebral or mixed phonotypes(P<0.05), while the percentage of K-F ring in patients with cerebral phonotype was 100.0%, greatly higher than 45.5% in patients with hepatic or 66.7% in patients with cerebral phonotype(P<0.05); serum AST, ALT and ceruloplasmin levels in patients with hepatic phonotype were 83.7(52.8, 137.5)U/L, 83.6(33.2, 163.6)U/L and 0.12(0.083, 0.22)g/L, significantly higher than [29.6(21.3, 46.1)U/L, 27.5(18.9, 38.8)U/L and 0.031(0.011, 0.058)g/L, respectively, P<0.05] in patients with cerebral phonotype or [37.2(27.8, 56.4)U/L, 23.2(18.4, 45.0)U/L and 0.057(0.040, 0.096)g/L, respectively, P<0.05] in patients with mixed phonotype; the ATP7B gene mutation was found in 11 sites in our series, and the incidences of EX11, EX13/CDS13, EX16 and EX18 mutation in patients with mixed phonotype were 41.7%, 25.0%, 25.0% and 16.7%, significantly higher than 7.3%, 5.5%, 3.6% and 3.6%(P<0.05) in patients with hepatic or 8.3%, 8.3%, 8.3% and 0.0%(P<0.05) in patients with cerebral phonotype, while the incidences of EX13 and EX8 mutation in patients with hepatic phonotype were 34.5% and 7.3%, much higher than 16.7% and 0.0%(P<0.05) in patients with cerebral or 16.7% and 0.0%(P<0.05) in those with mixed phonotype. Conclusion The clinical features of patients with HLD varies, and the ATP7B gene mutation differs, which needs further foundational verification.

Key words: Hepatolenticular degeneration, ATP7B gene mutation, Clinical feature, Gene mutation