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Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters
Jianli Zhou1, Qiao Zhang1, Yuzhen Zhao1
1Department of Gastroenterology, Shenzhen Children's Hospital, Shenzhen, China.
Insights
Early diagnosis of Wilson's disease (WD) in young children is possible using elevated alanine aminotransferase (ALT), decreased ceruloplasmin (CP), and increased urinary copper. This aids in better prognosis and survival rates for pediatric patients.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Diagnostic Criteria Development
Background:
- Wilson's disease (WD) is a rare genetic disorder of copper metabolism.
- Early diagnosis in young children is challenging but crucial for effective treatment.
- Alanine aminotransferase (ALT) elevation can be an initial indicator in pediatric WD.
Purpose of the Study:
- To establish early diagnostic criteria for Wilson's disease in young children in southern China.
- To utilize alanine aminotransferase (ALT) elevation as the primary presenting symptom for diagnosis.
- To assess the short-term prognosis of children diagnosed with WD.
Main Methods:
- Cross-sectional retrospective analysis of clinical and genetic data from 30 children with WD.
- Inclusion of patients presenting with elevated ALT as the first manifestation.
- Genetic testing of the ATP7B gene and analysis of serum ceruloplasmin (CP) and 24-h urinary copper levels.
Main Results:
- Thirty children (mean age 5.08 years) were diagnosed with WD presenting with elevated ALT.
- All patients (100%) showed decreased serum CP levels and increased 24-h urinary copper levels.
- Common ATP7B gene mutations identified were p.R778L (23.0%) and p.I1148T (10.7%); most children achieved good recovery.
Conclusions:
- Early diagnosis and treatment of Wilson's disease significantly improve survival rates and prognosis.
- Elevated ALT, decreased CP, and increased urinary copper are reliable early diagnostic markers for WD in children aged ~5 in southern China.
- These findings provide a foundation for larger-scale studies on pediatric WD diagnosis.
Abstract:
Objective: 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. Methods: 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. Results: 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 ATP7B 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. Conclusion: 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.
