Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder caused by mutations in the PKHD1 gene on chromosome 6 that results in multiple kidney cysts and liver fibrosis[1]. The study identified two novel heterozygous mutations in the PKHD1 gene (c.58505851insTTCAT and c.8710G > A) in a Chinese pediatric patient, which occurred in conserved regions of the gene and suggested potential pathogenicity[1]. The p.Gly1951Phefs25 shift mutation resulted in truncation of the fibrocystin protein and conformational changes, while the p.Glu2904Lys missense mutation caused drastic changes in amino acid polarity, impairing protein stability and function[1]. Analysis of 605 PKHD1 mutations revealed that hepatobiliary manifestations (hepatobiliary involvement) may represent a less severe mutational burden compared to renal phenotypes (kidney involvement)[1]. Mild homozygous missense mutations or heterozygous states can attenuate or eliminate a patient's renal phenotypes[1]. The findings contribute to the understanding of the relationship between genotype and phenotype in PKHD1 mutation carriers and provide insights for genetic counseling and prenatal diagnosis[1].