儿童肝豆状核变性的临床特点及基因分析(附70例报告)

目的 探讨儿童肝豆状核变性(WD)的临床特征及基因分析.方法 回顾性分析2011年1月至2021年6月中国医科大学附属盛京医院儿内科收治的70例WD患儿的临床资料.结果 70例患儿中,男性41例,女性29例,确诊时中位年龄6岁,首诊症状多数为体检时发现肝功能异常.不同临床类型表型中,肝型患儿起病年龄小、转氨酶水平高;神...

Clinical characteristics and gene analysis of hepatolenticular degeneration in children: A report of 70 cases

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).ATP7 B 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. R778 L,and the allele frequency was 44.87%.The level of culoplasmin in children with p.R778 L 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.ATP7 B gene test is helpful for early clinical diagnosis and prognosis evaluation of children highly suspected with WD.