Diagnosis and management of Wilson's disease in children: What's new?

Abstract

Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene. ATP7B encodes an enzyme called the copper transmembrane transporter ATPase, which is essential for the incorporation of copper into ceruloplasmin and the excretion of copper into the bile. Deficiency or dysfunction of this enzyme leads to progressive accumulation of copper in multiple organs, particularly in the liver, nervous system, corneas, kidneys, and heart. Children with WD may present with asymptomatic liver injury, cirrhosis, or acute liver failure, with or without neuropsychiatric symptoms. Approximately 20–30% of patients with WD present with acute liver failure. Although genetic testing has become a relevant diagnostic tool for WD, diagnosis remains based on both clinical and laboratory data. The goals of treatment are to reduce copper levels and prevent its accumulation in the liver and other organs, particularly the central nervous system. Liver transplantation in WM is a life-saving option for patients with liver failure and encephalopathy. For WM patients treated with chelating agents, adherence to treatment is essential for long-term success.