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Syndromic variability of Wilson's disease in children. Clinical study of 44 cases
R Giacchino1, M G Marazzi, A Barabino
1Infectious Disease Department, University of Genoa, Italy.
Insights
Diagnosing Wilson's disease in children requires careful evaluation of copper metabolism, as symptoms vary widely. Early detection and treatment are crucial for preventing disease progression in pediatric patients.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Clinical Diagnostics
Background:
- Wilson's disease diagnosis in children lacks specific indicators seen in adults.
- Clinical presentation and copper metabolism parameters are crucial for pediatric diagnosis.
Purpose of the Study:
- To establish diagnostic criteria for Wilson's disease in children.
- To evaluate clinical aspects and copper metabolism in pediatric cases.
- To guide appropriate treatment strategies, even in complex cases.
Main Methods:
- Studied 44 children with Wilson's disease, analyzing clinical, histological, and laboratory data.
- Monitored 40 patients treated with penicillamine for a median of 77 months.
- Assessed copper metabolism, including ceruloplasmin levels, urine copper excretion, and hepatic copper content.
Main Results:
- Observed diverse clinical presentations: asymptomatic, chronic hepatitis, hepatocerebral, cirrhosis, and fulminant hepatic failure.
- Abnormal ceruloplasmin levels in 86% of cases; urine copper was pathological in 83% of tested patients.
- Hepatic copper levels were significantly elevated in all tested patients; 63% of treated children showed favorable outcomes.
Conclusions:
- Wilson's disease in children presents with varied liver involvement, necessitating early diagnosis.
- Clinical suspicion combined with copper metabolism studies, including hepatic copper, is key for diagnosis.
- Prompt and appropriate treatment can prevent disease progression in pediatric Wilson's disease.
Background:
In children with Wilson's disease, no clinical or laboratory data are specific for diagnosis as in adult age.
Aim:
Clinical aspects and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and for correct treatment, even in difficult cases.
Methods:
In 44 children with Wilson's disease, clinical aspects, histological features, laboratory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 months).
Results:
The 44 cases were classified as: asymptomatic forms (nine cases, six of them siblings of affected subjects), chronic hepatitis (23 cases), hepatocerebral manifestations (four cases), decompensated cirrhosis (six cases), fulminant hepatic failure with hemolytic anemia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 tested cases, but normal in six (14%) who showed high basal and after penicillamine load urine copper excretion and increased hepatic copper content. Urine copper concentration was pathological in 35 out of 42 tested cases (83%), but normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under treatment, 27 children had favourable outcome. One patient showed no evolution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or severe side effects. Five patients with failure died.
Conclusions:
Wilson's disease in children may present with a broad clinical spectrum, but the liver involvement is by far the most prevalent. The early diagnosis, based on clinical suspicion and results of copper metabolism investigation (including hepatic copper content evaluation in difficult cases) and appropriate treatment can prevent the progression of the disease.