PKHD1 and autosomal recessive polycystic kidney disease: Mutations in PKHD1 gene are the known causes of ARPKD, but in 2016, Hao Lu and coworkers identified patients with homozygous mutations in DZIP1L gene, who had a phenotype similar to patients with homozygous mutations in PKHD1 (e.g., multiple small cysts) [28].