Biomedicine & Diseases: Review

Cellular and Molecular Life Sciences

, Volume 65, Issue 4, pp 605-619

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Polycystic kidney diseases: From molecular discoveries to targeted therapeutic strategies

  • O. Ibraghimov-BeskrovnayaAffiliated withCell Biology, Genzyme Corporation Email author 
  • , N. BukanovAffiliated withCell Biology, Genzyme Corporation


Polycystic kidney diseases (PKDs) represent a large group of progressive renal disorders characterized by the development of renal cysts leading to end-stage renal disease. Enormous strides have been made in understanding the pathogenesis of PKDs and the development of new therapies. Studies of autosomal dominant and recessive polycystic kidney diseases converge on molecular mechanisms of cystogenesis, including ciliary abnormalities and intracellular calcium dysregulation, ultimately leading to increased proliferation, apoptosis and dedifferentiation. Here we review the pathobiology of PKD, highlighting recent progress in elucidating common molecular pathways of cystogenesis. We discuss available models and challenges for therapeutic discovery as well as summarize the results from preclinical experimental treatments targeting key disease-specific pathways.


Polycystic kidney disease cilium cell cycle cAMP proliferation adhesion therapies