Regarding the recessive form of the disease, PKHD1 resulted to be the most mutated gene, representing 34.61% of total alleles: four patients bore the canonical heterozygous genotype, while in four patients we were able to identify a single mutation in heterozygosity, suggesting that some variants in PKHD1 might cause ADPKD as well as ADPLD, as suggested by literature data [54,55]. This evidence concerns the gene PKHD1 and autosomal dominant polycystic liver disease.