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Nahid KL, Rukunuzzaman M, Alam R, Begum F. Wilson’s disease in children: Recent update on pathophysiology and management. World J Clin Cases 2026; 14(21): 121660 [DOI: 10.12998/wjcc.121660]
World J Clin Cases. Jul 26, 2026; 14(21): 121660 Published online Jul 26, 2026. doi: 10.12998/wjcc.121660
Wilson’s disease in children: Recent update on pathophysiology and management
Khan Lamia Nahid, Mohammad Rukunuzzaman, Rubaiyat Alam, Fahmida Begum
Khan Lamia Nahid, Mohammad Rukunuzzaman, Rubaiyat Alam, Fahmida Begum, Department of Pediatric Gastroenterology and Nutrition, Bangladesh Medical University, Dhaka 1000, Bangladesh
Author contributions: Nahid KL contributed by literature search and final writing of manuscript; Rukunuzzaman M is responsible for the conception and design of the review; Alam R assisted in writing and editing the manuscript; Begum F contributed by making critical revision of the manuscript; all authors provided the final approval of the article.
AI contribution statement: No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. All AI-generated outputs were critically reviewed and revised by the authors.
Conflict-of-interest statement: All the authors report no conflict of interest for this article.
Corresponding author: Khan Lamia Nahid, Associate Professor, Department of Pediatric Gastroenterology and Nutrition, Bangladesh Medical University, Shahbag, Dhaka 1000, Bangladesh. lamianahid@yahoo.com
Received: March 30, 2026 Revised: May 9, 2026 Accepted: June 11, 2026 Published online: July 26, 2026 Processing time: 113 Days and 23.9 Hours
Core Tip
Core Tip: Wilson’s disease (WD) is an autosomal recessive disease caused by mutations in ATP7B gene which has a fundamental role in copper metabolism, leading to accumulation of copper in the liver and other vital organs. Major functions of ATP7B are incorporation of copper into apoceruloplasmin and the excretion of copper into bile. From simple asymptomatic elevation of liver enzyme to acute liver failure, chronic hepatitis, portal hypertension may be the initial hepatic presentation of this disease. No single test is diagnostic for WD. Initial testing includes ocular slit-lamp examination, 24-hour urinary copper excretion and serum ceruloplasmin. Leipzig scoring system for diagnosis is used widely. Relative exchangeable copper is the new non-invasive biomarker for WD diagnosis with the highest sensitivity and specificity. Patients need lifelong chelation therapy until liver transplantation.
