Cystic kidney diseases: learning from animal models.

Renal tubular cysts arise in several inherited human disorders which include autosomal dominant polycystic kidney disease (ADPKD), as well as rarer disorders such as autosomal recessive polycystic kidney disease (ARPKD) nephronophthisis and medullary cystic kidney. Despite their genetic, clinical and histopathological heterogeneity, all these diseases involve a dilation of tubules leading to cyst formation. This suggests that the gene defects underlying these cystic disorders might disrupt common molecular pathways. Numerous mouse and rat polycystic kidney disease (PKD) models have been described over the last few years. Some of these models are the result of spontaneous mutations; others were generated through random mutagenesis or gene targeting of mouse PKD orthologue genes. Despite not strictly reproducing the human disease, these animals models have provided new insights into the mechanisms underlying cyst formation.