Wilson Disease in Children: A Single-Center Experience

HALDUN EMİROĞLU

doi:10.56752/Mevmedsci.2026.101

HALDUN EMİROĞLU, MELTEM GÜMÜŞ, Anna Carina Ergani, Vesile Betül Aydın, İlhan Abidin, Mehmet Akif AĞIR

Year : 2026
Vol : 6
Issue : 1
Page : 1-7

DOI : 10.56752/Mevmedsci.2026.101

Objective: This study aims to present the demographic characteristics, clinical findings, laboratory and histopathological data, and treatments administered to pediatric patients diagnosed with Wilson’s disease in our clinic over the past 11 years. Methods: Nineteen pediatric patients diagnosed with Wilson disease between September 1, 2012 and January 1, 2023 at Selçuk University Faculty of Medicine, Department of Pediatric Gastroenterology, were retrospectively analyzed. Clinical, biochemical, radiological and histopathological findings were recorded, and the Ferenci scoring system was used in the diagnostic assessment. Results: Of the patients, 57.8% were male and the mean age at diagnosis was 8.84 ± 3.64 years. The most common reason for admission was incidentally detected elevated transaminases, and 78.9% of patients presented with the hepatic form. Hepatomegaly was the most frequent physical examination finding (52.6%). Kayser–Fleischer rings were present in 31.5% and neurological symptoms in 15.7% of cases. Mean serum ceruloplasmin level was 8.47±8.06 mg/dL, 24-hour urinary copper excretion was 468.42 ± 562.87 µg, and mean hepatic copper concentration (n=16) was 797.63 ± 527.08 µg/g. Genetic confirmation was performed in 10 patients; treatment modification was required in three due to D-penicillamine–related hematological side effects, and one patient underwent liver transplantation. Conclusion: Pediatric Wilson disease shows wide clinical variability but predominantly presents with hepatic involvement. Low ceruloplasmin levels, increased urinary copper excretion and hepatic copper accumulation are key diagnostic indicators, while the Ferenci score enhances diagnostic reliability. Early diagnosis, regular follow-up and treatment adherence positively influence disease progression.

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Wilson Disease in Children: A Single-Center Experience, Research Article,
2026, Vol. 6 (1)

Received : 27.11.2025, Accepted : 05.12.2025 , Published Online : 08.04.2026