Clinical and Experimental Pediatrics

Original Article

Gastroenterology

Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants

Amresh Kumar Mishra, Moinak Sen Sarma, Anchal Dubey, Pratik Gadekar, Amita Moirangthem, Anshu Srivastava, Amrita Mathias

Clin Exp Pediatr. 2026;69(8):646-654. Published online July 13, 2026

Question: Do the loss of function (LOF) of ATP7B mutated variants affect the severity or outcomes of hepatic Wilson disease (WD)?
Finding: LOF is associated with advanced liver disease, portal hypertension, and extrahepatic involvement. LOF did not determine hepatic or overall outcomes. ATP7B: c.813C>A (truncation variant) has an aggressive course with higher predisposition to acute liver failure. Lower serum exchangeable copper levels and higher disappearance of Kayser-Fleischer ring were observed in ATP7B: c.3809A>G (nontruncation variant) suggesting a better effect of chelation and lesser systemic copper.
Meaning: Truncation of the ATP7B protein determines the severity of the phenotype in WD.

DOI: https://doi.org/10.3345/cep.2026.00689

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