Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition that arises due to biallelic pathogenic variants in a small subset of genes, the most common of which is PKHD1. PKHD1 encodes the fibrocystin protein that participates in the development of kidney and liver tubular structures. This evidence concerns the gene PKHD1 and autosomal recessive polycystic kidney disease.