中风与神经疾病杂志2024，Vol.41Issue(1)：52-57,6.DOI:10.19845/j.cnki.zfysjjbzz.2024.0010
累代遗传的肝豆状核变性的临床与基因诊断分析
Clinical and genetic diagnosis of hepatolenticular degeneration occurring in two consecutive generations
摘要
Abstract
Objective To investigate the ideas for the clinical and genetic diagnosis of hepatolenticular degenera-tion(HLD)occurring in two consecutive generations.Methods The information on history of present illness,past his-tory,and family history were collected from three patients with HLD who were admitted to our department from June 2017 to July 2023,and their first-degree relatives who might have this disease were examined in terms of liver function,serum ceruloplasmin(CP),basal 24-hour urinary copper excretion(urinary Cu),Kayser-Fleischer ring(KFR)of the cornea,abdominal ultrasound,and ATP7B gene testing.Results Among the parents or children of the probands in these three families,two were found to have elevated serum aminotransferases,three had a reduction in CP and an increase in urinary Cu,and 1 had fatty liver;all of them had compound heterozygous mutations in the ATP7B gene,and all tested negative for KFR.This study identified three families with HLD occurring in two consecutive generations and found a new pathogenic mutation.Conclusion CP,KFR,or abdominal ultrasound has certain limitations in screening pre-symptomatic HLD;urinary Cu test has a good sensitivity,and genetic testing can further improve the accuracy of diagnosis.Due to the high carrying rate of ATP7B pathogenic mutations in the population with HLD,HLD occurring in two consecutive generations should be taken seriously in clinical practice.关键词
肝豆状核变性/累代遗传/ATP7B/诊断分析Key words
Hepatolenticular degeneration/Two consecutive generations of inheritance/ATP7B/Diagnostic analysis分类
医药卫生引用本文复制引用
刘力生,方明娟,年娜,赵雯,童广安,王佳炜,胡文彬..累代遗传的肝豆状核变性的临床与基因诊断分析[J].中风与神经疾病杂志,2024,41(1):52-57,6.基金项目
国家自然科学基金(81473535) （81473535）
