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Pediatric Wilson's disease: presentation and management
1Department of Pediatrics, University of California, Los Angeles, USA.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|March 1, 1997
Summary
Early diagnosis of Wilson's disease in children is crucial. Recognizing diverse symptoms, including hepatic and neurological signs, aids timely treatment and improves outcomes for pediatric patients.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Clinical Pediatrics
Background:
- Wilson's disease is a rare genetic disorder causing copper accumulation.
- Pediatric Wilson's disease often presents with varied hepatic manifestations.
- Timely diagnosis in children is critical for effective management.
Purpose of the Study:
- To describe the clinical presentation and diagnostic features of Wilson's disease in pediatric patients.
- To highlight the spectrum of Wilson's disease manifestations in individuals under 18.
- To emphasize the importance of early detection and treatment in pediatric cases.
Main Methods:
- Retrospective case series analysis of eleven pediatric patients with Wilson's disease.
- Review of clinical data including age of onset, diagnosis, symptoms, and treatment.
- Analysis of diagnostic findings such as Kayser-Fleischer rings and hemolytic anemia.
Main Results:
- Mean age of symptom onset was 11.2 years, and diagnosis was 13.3 years.
- All patients exhibited hepatic involvement, including cirrhosis, chronic hepatitis, or fulminant hepatic failure.
- Uncommon presentations like blurred vision and acalculous cholecystitis were noted; fulminant cases showed specific hemolysis patterns.
Conclusions:
- Wilson's disease presents heterogeneously in children, necessitating awareness of diverse symptoms.
- Early identification and intervention, including penicillamine or liver transplantation, lead to favorable outcomes.
- Recognizing specific clinical clues in fulminant hepatic failure can expedite diagnosis.