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Clinical presentations of Wilson disease among Polish children
Magdalena Naorniakowska1, Maciej Dądalski1, Diana Kamińska1
1Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Insights
Wilson disease (WD) in children often presents with liver issues like elevated transaminases, not neurological symptoms. Diagnosis can be tricky due to varied symptoms, but ceruloplasmin and copper tests are helpful.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Clinical Diagnostics
Background:
- Wilson disease (WD) presents with diverse hepatic and neuropsychiatric symptoms, varying from childhood to late adulthood.
- While diagnosis is typically straightforward with major clinical and laboratory signs, the wide spectrum of phenotypes poses diagnostic challenges, especially in early stages.
- Pediatric presentations are particularly varied, necessitating a thorough understanding of clinical and diagnostic nuances.
Purpose of the Study:
- To investigate the clinical manifestations and diagnostic approaches for Wilson disease in Polish pediatric patients.
- To analyze the spectrum of symptoms, common laboratory findings, and genetic mutations in a cohort of children diagnosed with WD.
Main Methods:
- Retrospective analysis of medical histories from 156 pediatric patients diagnosed with Wilson disease between 1996 and March 2016.
- Evaluation of clinical presentations, including hepatic and neurological symptoms, and laboratory test results such as ceruloplasmin concentration and urinary copper excretion.
- Inclusion of mutation analysis data for a significant portion of the patient cohort.
Main Results:
- The average age of symptom onset was approximately 10.15 years.
- Hepatic involvement was predominant (94.23%), with increased transaminases being the most frequent finding (78.2%), followed by liver failure (16.03%).
- Low serum ceruloplasmin (≤0.2 g/l) was observed in 90.26% of patients, and elevated basal urinary copper excretion (>100 μg/24 h) in 51.93%. The p.H1069Q mutation was the most common.
Conclusions:
- Wilson disease in children commonly manifests with hepatic symptoms, such as elevated transaminases or liver failure, with neurological symptoms being rare.
- The broad variability in clinical presentation and severity complicates early and accurate diagnosis.
- While genetic screening, ceruloplasmin levels, and urinary copper excretion are valuable diagnostic aids, they do not definitively exclude Wilson disease.
Introduction:
Wilson disease (WD) may present from early childhood up to the eighth decade, presenting with variable hepatic and neuropsychiatric symptoms. Establishing the diagnosis is straightforward if the major clinical and laboratory features are present. However, clinical phenotypes are highly varied and early, proper diagnosis can be challenging.
Aim:
The aim of our study was to analyze clinical presentations and diagnostic tests of Polish pediatric patients with WD.
Methods:
We retrospectively analyzed medical history of 156 patients with confirmed diagnosis of WD treated at our Institute from 1996 till March 2016.
Results:
The mean age at onset of symptoms was 10.15±4.23 years of age. Hepatic presentation was the most common one (94.23%) with either liver failure (16.03%) or more frequently increased transaminases (78.2%). In 90.26% cases ceruloplasmin serum concentration was ≤0,2 g/l, in 51.93% patients basal urinary copper excretion was >100 μg/24 h. Mutation analysis was performed in 155 (99.36%) cases. The most common mutation was p.H1069Q.
Conclusions:
Wilson disease can present with only significantly increased transaminases activity and hepatomegaly or liver failure, but neurological symptoms are very rare in children. Diagnostic approach is challenging due to wide spectrum of clinical presentations in a high variable degree of severity. Genetic screening is supportive, ceruloplasmin and urinary copper excretion are valuable tests in the majority of patients but do not allow to exclude WD.
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