Zhou Jianli, Zhang Qiao, Zhao Yuzhen, Chen Moxian, Zhou Shaoming, Cheng Yongwei
Department of Gastroenterology, Shenzhen Children's Hospital, Shenzhen, China.
Co-Innovation Center for Sustainable Forestry in Southern China, Key Laboratory of National Forestry and Grassland Administration on Subtropical Forest Biodiversity Conservation, College of Biology and the Environment, Nanjing Forestry University, Nanjing, China.
Front Genet. 2022 Feb 10;13:788658. doi: 10.3389/fgene.2022.788658. eCollection 2022.
The aim of the study was to develop the early diagnostic criteria for Wilson's disease (WD) in young children in southern China by using alanine aminotransferase (ALT) elevation as the first manifestation. A cross-sectional retrospective analysis of the clinical data and genetic test results of children with WD in southern China in the past 4 years and the follow-up of their short-term prognosis were performed in this study. A total of 30 children (5.08 ± 2.06 years old) with elevated ALT as the first manifestation of WD in southern China were enrolled in this study, including 14 females and 16 males. Specifically, in all of the 30 cases (100%), the serum ceruloplasmin (CP) level was decreased, whereas the 24-h urinary copper level was increased. The genetic mutation test of the gene was used to confirm the diagnosis. In particular, the two mutation sites, including p.R778L and p.I1148T, had the highest mutation frequencies, approximately 23.0 and 10.7%, respectively. Through follow-up, most of the children had good recovery. Early diagnosis and treatment of WD would substantially increase the survival rate and have a better prognosis. In addition, in 5-year-old children from southern China, early diagnosis could be performed quickly by referring to the following three parameters: elevated ALT, decreased ceruloplasmin level, and increased 24-h urinary copper level. It lays a foundation for further studies with a larger sample size.
本研究旨在以丙氨酸氨基转移酶（ALT）升高为首发表现，制定中国南方地区幼儿威尔逊病（WD）的早期诊断标准。本研究对中国南方地区过去4年中以ALT升高为WD首发表现的儿童的临床资料和基因检测结果进行了横断面回顾性分析，并对其短期预后进行了随访。本研究共纳入30例中国南方地区以ALT升高为WD首发表现的儿童（5.08±2.06岁），其中女性14例，男性16例。具体而言，在所有30例病例（100%）中，血清铜蓝蛋白（CP）水平降低，而24小时尿铜水平升高。采用该基因的基因突变检测来确诊。特别是，两个突变位点，包括p.R778L和p.I1148T，突变频率最高，分别约为23.0%和10.7%。通过随访，大多数儿童恢复良好。WD的早期诊断和治疗将显著提高生存率并具有更好的预后。此外，对于中国南方地区5岁儿童，通过参考以下三个参数可快速进行早期诊断：ALT升高、铜蓝蛋白水平降低和24小时尿铜水平升高。这为进一步开展更大样本量的研究奠定了基础。
