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]
Corresponding Author of This Article
Khan Lamia Nahid, Associate Professor, Department of Pediatric Gastroenterology and Nutrition, Bangladesh Medical University, Shahbag, Dhaka 1000, Bangladesh. lamianahid@yahoo.com
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Pediatrics
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review-article
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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
Abstract
Wilson’s disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene, which plays a fundamental role in copper metabolism, leading to the accumulation of copper in the liver and other vital organs. Major functions of ATP7B are the incorporation of copper into apoceruloplasmin and the excretion of copper into bile. From simple asymptomatic elevation of liver enzymes to acute liver failure, as well as chronic hepatitis, portal hypertension may be the initial presentation of this disease. Approximately 800 different mutations of the ATP7B gene have been recognized. WD has wide phenotypic disease expressions. Genotypic expression does not always correlate with phenotypic disease expression or disease severity. Environmental and epigenetic factors may play a role in disease expression. No single test is diagnostic for WD. Initial testing includes ocular slit-lamp examination, 24-hour urinary copper excretion, and serum ceruloplasmin. The Leipzig scoring system for diagnosis is widely used. Relative exchangeable copper is the new noninvasive biomarker for WD. It gives a quick result before awaiting genetic testing. Timely diagnosis of WD is important, as it can halt the clinical progression of the liver and neurological disease. D-penicillamine and trientine remain the main chelators for WD treatment. Patients need lifelong chelation therapy until liver transplantation. Research on new treatment modalities, such as methanobactin, is ongoing for further human use. This review discusses the genetic aspects of WD, copper metabolism, a new diagnostic method, and a research molecule for future management of WD.
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.
