Clinical Characteristics of Wilson Disease in Children: Our Experience from a Tertiary Care Hospital

Wilson's disease in children

Abstract

Objective:

This study aimed to describe the clinical characteristics of Wilson's disease (WD) in our genetically homogenous (inbred) population.

Study design: Cross sectional observational study.

Place and duration of study: This study was conducted at the Liver unit of Children's Hospital & University of Child Health Sciences, Lahore, from January 2021 to December 2024.

Material and Methods:

Children under the age of 18 and diagnosed with Wilson’s disease were enrolled based based on Leipzig criteria. Data analyzed include demographic, clinical presentation, and diagnostic modalities especially KF rings, serum ceruloplasmin and 24-hours urinary copper estimation. Statistical analysis was carried out by using the Statistical Package for Social Sciences version 26 (SPSS Chicago, IL, USA).

Results:

A total of 50 children met the diagnostic criteria for Wilson’s disease; 27 (54%) were male, with a mean age of 9.67 ± 2.31 years. Most (88%) were symptomatic, while 12% were diagnosed via sibling screening. Consanguinity was present in 64%, and 16% had a positive family history. Acute liver failure was the most common presentation. Jaundice, edema, encephalopathy, hemolysis, and portal hypertension were frequent findings. Neurological and other rare manifestations were less common. Serum ceruloplasmin was low in 78%, and urinary copper elevated in most. Medical treatment was effective in 23 patients; 8 required transplantation, and 19 (38%) died.

Conclusion:

Pediatric Wilson disease is relatively common and often presents as chronic liver disease. In acute liver failure or hemolysis, WD should be considered. Serum ceruloplasmin, liver chemistry, urinary copper, KF rings, and family history aid in diagnosis.

Keywords: Wilson disease, clinical features, hemolysis, chronic liver disease.