Ann Liver Transplant.  2023 Nov;3(2):80-85. 10.52604/alt.23.0019.

Pediatric liver transplantation for Wilson disease

• Park JI
• Jung BH

• KMID: 2560927
• DOI: http://doi.org/10.52604/alt.23.0019

Abstract

Wilson disease (WD) stands as an autosomal recessive disorder primarily brought about by genetic mutations affecting the ATP7B gene, yielding a prevalence rate estimated at 1:30,000 to 50,000 individuals. The ATP7B gene codes for an enzyme known as transmembrane copper-transporting ATPase, a crucial factor in the incorporation of copper into ceruloplasmin and its elimination through bile excretion. The malfunction or absence of this enzyme leads to the progressive buildup of copper within various organs, particularly the liver, nervous system, corneas, kidneys, and heart. Children afflicted with WD may manifest with asymptomatic liver issues, cirrhosis, or even acute liver failure, accompanied by or without neurological and psychiatric symptoms. Approximately 20% to 30% of WD patients experience acute liver failure, while the majority of others develop chronic progressive hepatitis or cirrhosis when left untreated. While genetic testing has gained significance in diagnosing WD, the diagnosis still relies on a combination of clinical observations and laboratory tests. In cases of liver failure and encephalopathy, liver transplantation emerges as a life-saving option for WD patients. This review addresses specific concerns pertinent to liver transplantation for pediatric WD patients.

Keyword

Wilson disease; Acute liver failure; Copper metabolism; Genetic disorder; Liver transplantation