Renal cystic diseases are the major group of inherited renal disorders in humans and a leading cause of end-stage renal disease. Dominant and recessive polycystic kidney disease (ADPKD and ARPKD, respectively) account for most of the clinical conditions. However, nephronophthisis (NPHP), medullary cystic kidney disease (MCKD), and dominant glomerulocystic kidney disease (GCKD) still have a relevant clinical impact, particularly in children. The discovery that the proteins that are defective in ADPKD and ARPKD localize to the primary cilium and the recognition of the role of this organelle in cystogenesis have led to the term ''ciliopathies''. In the last decade, the list of ciliopathies has continued to grow. Analysis of the protein products of the nine NPHP genes (NPHP 1-9) evinced a strong relation between ciliary function and pathogenesis of NPHP. The oral-facial-digital syndrome (OFD) type I, characterized by congenital malformations and cystic kidney disease, was found to result from mutations in the OFD1 gene, which encodes a protein located to the primary cilium. Parallel to these advances, mutations in UMOD, the gene encoding uromodulin, were identified in pedigrees with MCKD2, familial juvenile hyperuricemic nephropathy, and autosomal dominant GCKD. In all these disorders, uromodulin was found to be accumulating in intracellular aggregates, suggesting a common pathogenesis. Taken together, these findings suggest the need for the separation of renal cystic diseases due to UMOD mutations (uromodulin-associated diseases) from renal cystic diseases related to mutation of genes encoding for proteins expressed in the primary cilium (ciliopathies).