Polycystic kidney disease: Pathogenesis and potential therapies

Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent, inherited condition for which there is currently no effective specific clinical therapy. The disease is characterized by the progressive development of fluid-filled cysts derived from renal tubular epithelial cells which gradually compress the parenchyma and compromise renal function. Current interests in the field focus on understanding and exploiting signaling mechanisms underlying disease pathogenesis as well as delineating the role of the primary cilium in cystogenesis. This review highlights the pathogenetic pathways underlying renal cyst formation as well as novel therapeutic targets for the treatment of PKD. This article is part of a Special Issue entitled: Polycystic Kidney Disease.

Research Highlights
► Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disorder.
► ADPKD causes cystic enlargement of the kidneys, and often results in renal failure.
► Mutations in the genes encoding polycystin-1 and polycystin-2 cause ADPKD.
► The polycystin-1 and 2 proteins are partially localized to the primary cilium.
► The polycystin-1 and 2 proteins participate in a large number of signaling pathways.