Acute liver failure with hemolytic anemia in children with Wilson's disease: Genotype-phenotype correlations?

ABSTRACT:

Background

Wilson's disease (WD) is a rare autosomal recessive inherited disorder of copper metabolism. Acute liver failure (ALF) and hemolytic anemia represent the most severe presentation of WD in children. No clear genotype-phenotype correlations exist in WD. Protein-truncating nonsense, frame-shift, or splice-site variants may be associated with more severe disease. In contrast, missense variants may be associated with late-onset, less severe disease, and more neurological manifestations. Recently, a gene variant (HSD17B13:TA, rs72613567) with a possible hepatic protective role against toxins was associated with a less severe hepatic phenotype in WD.

Aim

To analyze the possible genotype-phenotype correlations in children with WD presented with ALF and non-immune hemolyti

SUBMITTER: Pop TL 

PROVIDER: S-EPMC8568583 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature