Pediatric Wilson's disease: findings in different presentations. A cross-sectional study

Area of Science:

• Hepatology
• Pediatric Gastroenterology
• Genetic Liver Diseases

Background:

• Wilson's disease (WD) is a genetic disorder of copper metabolism.
• Clinical manifestations of WD range from asymptomatic presentation to severe liver cirrhosis and failure.
• Understanding diverse clinical presentations is crucial for timely diagnosis and management.

Purpose of the Study:

• To evaluate the clinical presentations, laboratory findings, and prognoses of pediatric Wilson's disease cases.
• To identify patterns and correlations between clinical signs, laboratory results, and disease severity.
• To compare findings with previously reported series and identify unique characteristics.

Main Methods:

• A cross-sectional study analyzing medical records of 64 children diagnosed with Wilson's disease.
• Evaluation focused on clinical, laboratory, and liver biopsy findings.
• Data collected from İnönü University, Malatya, Turkey.

Main Results:

• The mean age at diagnosis was 8.6 years; 29.7% of patients were asymptomatic.
• Common findings included jaundice (45.3%) and hypertransaminasemia (85.9%).
• A significant proportion presented with chronic liver disease (28.1%), fulminant liver failure (18.8%), or neurological WD (14.1%); 77.8% of liver transplant recipients had fulminant liver failure.

Conclusions:

• Clinical presentations were largely consistent with prior reports, but a high proportion of fulminant WD cases was observed.
• Lower serum zinc levels correlated with fulminant liver failure.
• Further research is warranted to elucidate the roles of zinc and iron in WD pathogenesis and progression.