This study aimed to investigate the pathogenesis of <i>PKHD1</i> gene variants in a Chinese ARPKD pedigree and elucidate the mechanisms underlying the phenotypic heterogeneity in patients with <i>PKHD1</i> mutations.<h4>Methods</h4>Clinical data and blood samples were collected from the proband and family members. This evidence concerns the gene PKHD1 and autosomal recessive polycystic kidney disease.