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Wilson disease in children: analysis of 57 cases
Nina Manolaki1, Georgia Nikolopoulou, George L Daikos
1First Department of Pediatrics, Athens University, Aghia Sophia Children's Hospital, Athens, Greece.
Insights
Diagnosing Wilson disease (WD) in children is challenging due to varied symptoms. Genetic testing is crucial for confirming the diagnosis in ambiguous pediatric cases.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Clinical Diagnostics
Background:
- Wilson disease (WD) presents with diverse clinical symptoms in children, often making early diagnosis difficult.
- Asymptomatic cases and varied presentations complicate the diagnostic process in pediatric populations.
Observation:
- This study analyzed 57 children diagnosed with WD, with a mean age of 9.27 years.
- Diagnosis was achieved through clinical presentation, abnormal liver function tests, family screening, and specific laboratory markers.
- Diagnostic criteria included Kayser-Fleischer rings, low serum ceruloplasmin, elevated urinary copper excretion, and liver copper content.
Findings:
- Genetic analysis proved essential for diagnosing 2 children with equivocal test results (serum ceruloplasmin 26 mg/dL).
- No direct correlation was observed between specific genetic mutations and the clinical phenotype of WD.
- Chelating therapy demonstrated good tolerance and satisfactory outcomes in the studied pediatric cohort.
Implications:
- Wilson disease diagnosis in children necessitates comprehensive evaluation due to its often subtle presentation.
- Genetic analysis plays a vital role in confirming WD in cases with unclear laboratory findings.
- Effective management with chelating agents leads to positive outcomes in pediatric Wilson disease.
Objectives:
Wilson disease (WD) has a wide spectrum of clinical manifestations. Affected children may be entirely asymptomatic and the diagnosis problematic. Herein we present the clinical and laboratory characteristics of 57 children with WD and point out the diagnostic difficulties in a pediatric population.
Patients And Methods:
Clinical and laboratory data were collected from 57 consecutive children with WD. Evaluation included detailed physical examination, conventional laboratory testing, genetic analysis, and liver biopsy.
Results:
The mean age at diagnosis was 9.27 +/- 3.62 years (range 4 months-18 years). Twenty patients were symptomatic, 19 were referred because of abnormal liver function test results and/or hepatomegaly, and 18 received their diagnoses after family screening. Twenty-two patients had both Kayser-Fleischer ring and decreased serum ceruloplasmin levels, 13 had urinary copper excretion after penicillamine challenge >1600 microg/24 hours, and 3 had liver copper content >250 microg/g dry weight. Of the remaining 19 patients, 17 had both low serum ceruloplasmin
Conclusions:
WD in children may be obscure and requires extensive investigation to establish the diagnosis. Genetic analysis is needed in equivocal cases.
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