Clinical analysis of hepatolenticular degeneration in 38 children
10.3969/j.issn.1000-3606.2017.10.004
- VernacularTitle:儿童肝豆状核变性38例临床分析
- Author:
Kaihua YANG
1
;
Zhaohui DENG
;
Jian WANG
;
Lirong JIANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心 上海 200127
- Keywords:
hepatolenticular degeneration;
clinical feature;
ATP7B gene;
child
- From:
Journal of Clinical Pediatrics
2017;35(10):733-736
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical characteristics and diagnosis of hepatolenticular degeneration (WD) in children. Method The clinical data of 38 children with WD were analyzed retrospectively. Results In the 38 cases (15 males and 23 females), the median age at diagnosis was 6 years, and the average interval between onset and confirmed diagnosis was 5.7 months. The median course of disease was 2 months and the longest was 3 years. Hepatic dysfunction was the most common initial symptom (71.1%), and 27 cases had glutamic acid aminotransferase > 2 ULT (71.1%); Serum ceruloplasmin decreased obviously in 3 cases (94.7%), copper oxidase was significantly reduced in 37 cases (97.4%); 24 h urine copper increased in 33 cases, in which 32 cases(84.2%)had>150 μg/24 h.The K-F rings were presented in 10 cases(26.3%).ATP7B gene sequencing was performed in 19 cases, and the positive rate was 83.3%. Conclusions Onset with liver lesions was common in children with WD, The combination of the results of serum ceruloplasmin, copper oxidase, and 24 h urine copper may made a clinical diagnosis.For a highly suspected case with inadequate evidence,the ATP7B gene detected is helpful.
