Wilson–Konovalov disease (WCD) is a rare hereditary disorder of copper metabolism caused by mutations in the ATP7B gene. Early diagnosis in children is crucial to prevent irreversible organ damage. To investigate the clinical, neurological, and laboratory characteristics of WCD in pediatric patients.
A total of 60 children aged 5–14 years were enrolled: 30 patients with WCD (main group) and 30 healthy children (control group). Family history, cognitive functions (Wechsler scale), ophthalmological findings, biochemical parameters (serum ceruloplasmin and copper, daily urinary copper excretion), and abdominal ultrasound were assessed.
In the main group, the initial complaints were fatigue, weakness, and recurrent epistaxis. Neurological symptoms (dysarthria, dysphagia, hypomimia, affective disorders) were observed in 33.3% of children older than 10 years. Cognitive decline was identified in 13.3% of patients. Kayser–Fleischer rings were detected in 26.7% of cases. Daily urinary copper excretion exceeded 90 µg/day in 40% of affected children. Mean serum ceruloplasmin was 0.9±0.2 g/L (normal: 0.2–0.4 g/L), and total serum copper was 9.8±1.1 µmol/L (normal: 12.56–24.34 µmol/L). Abdominal ultrasound revealed hepatomegaly and gallbladder enlargement of varying degrees.

Wilson–Konovalov disease, ATP7B, copper metabolism, pediatrics, neurology, ceruloplasmin, Kayser–Fleischer ring

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