Transplantation Reports · Published 2025-12-15 · DOI 10.1016/j.tpr.2025.100190
Wilson’s disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene. When chelation therapy proves ineffective, liver transplantation serves as the definitive treatment option. However, owing to the scarcity of cadaveric donor organs, living donor liver transplantation (LDLT) constitutes an important alternative. Nonetheless, the use of donors possessing compound heterozygous mutations in ATP7B and exhibiting low ceruloplasmin levels remains a subject of controversy.We report a 49-year-old woman with Wilson's disease (WD) who presented with liver cirrhosis, bleeding esophageal varices, and hepatocellular carcinoma. She underwent living donor liver transplantation (LDLT) from her 18-year-old son, who carried compound heterozygous mutations in the ATP7B gene and exhibited low ceruloplasmin and copper levels. Both the donor and recipient recovered well. The recipient’s liver function and copper metabolism normalized without the need for further chelation therapy.This case indicates that individuals who are compound heterozygous carriers of ATP7B with low ceruloplasmin levels may be considered suitable donors following a comprehensive assessment. A multidisciplinary approach is crucial to the donor selection process in Wilson's disease (WD).
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