Age-associated clinical characteristics and

Background: Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism caused by pathogenic variants in Methods: In total, 170 pediatric patients with WD were enrolled. The clinical data, imaging findings, and biochemical parameters were obtained. Age-stratified analyses were also conducted. Results: Hepatic presentation was predominant (84.12%), with neurological and mixed phenotypes more common in older patients. The incidence of Kayser-Fleischer rings, hepatic steatosis, cirrhosis, and abnormal brain magnetic resonance imaging (MRI) findings increased with age at diagnosis (all p < 0.01). Protein-truncating variants were significantly associated with neurological involvement (odds ratio [OR] = 4.058, p = 0.01), and male sex was an independent predictor (OR = 5.342, p = 0.006). The p. Pro992Leu variant was associated with hepatic fibrosis and steatosis (both p = 0.001). Liver enzymes (alanine aminotransferase [ALT], aspartate aminotransferase [AST], and gamma-glutamyltransferase [GGT]) decreased with increasing age at onset, whereas total cholesterol and low-density lipoprotein [LDL] cholesterol levels increased. 76 Conclusion: This study aimed to investigate age-related differences in clinical and biochemical features at disease onset in pediatric WD, with complementary analyses of genetic variation. It delineates age of onset-dependent phenotypic progression and a highly heterogeneous