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Clinical and laboratory profile and outcome in children with Wilson disease: an observational study in South India

Ranjini Srinivasan1, Shilpa Dominic1, Antony George1

  • 1Department of Pediatrics, St John's Medical College Hospital, Bengaluru, India.

Paediatrics and International Child Health
|September 9, 2024
PubMed

Insights

Wilson disease, a genetic disorder of copper metabolism, presents diverse symptoms in children, primarily affecting the liver and brain. Early diagnosis through clinical and biochemical tests, followed by chelation therapy, is key for management.

Area of Science:

  • Pediatric Hepatology
  • Neurogenetics
  • Metabolic Disorders

Background:

  • Wilson disease is an inherited disorder affecting copper metabolism, leading to toxic copper accumulation in organs like the liver and brain.
  • This condition requires timely diagnosis and management to prevent severe organ damage.

Purpose of the Study:

  • To characterize the clinical spectrum, diagnostic methods, and treatment outcomes of Wilson disease in pediatric patients.
  • To provide insights into the presentation and management of Wilson disease in a South Indian tertiary-care setting.

Main Methods:

  • A retrospective observational study analyzed medical records of 32 pediatric patients diagnosed with Wilson disease between January 2018 and March 2023.
  • Diagnosis was confirmed using low serum ceruloplasmin and/or high urine copper levels, alongside clinical and ophthalmological findings.

Main Results:

  • The study included 32 children (M:F ratio 1.6:1), with a mean age of 110 months at presentation.
  • Hepatic involvement occurred in 60% of patients, while 40% presented with neurological symptoms, often combined with liver issues.
  • Biochemical confirmation showed low serum ceruloplasmin in 96% and elevated urine copper in all patients.

Conclusions:

  • Wilson disease in children exhibits varied clinical presentations, including hepatic, neurological, and atypical forms.
  • Diagnosis relies on a combination of clinical, ophthalmological, and biochemical markers (low ceruloplasmin, high urinary copper).
  • Chelation therapy, such as D-penicillamine or zinc, is effective for medical management in the majority of pediatric cases.
Abstract

Keywords:
Ceruloplasmincoppercytopeniahepatolenticular degenerationliverpenicillamine

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