Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common
inherited kidney disease in the clinic. The predominant clinical manifestation is bilateral and progressive
cysts formation in the kidneys, impairs normal renal parenchyma, and ultimately leads to endstage
renal disease (ESRD). ADPKD is a heterogenic disease which is resulted from the mutations of
PKD1 or PKD2 genes which encode polycystin-1 (PC1) and -2 (PC2), thereby multiple cell signaling
pathways are involved.
Method: Although causative genes and aberrant signaling pathways have been investigated for decades,
lack of effective and less side-effect treatment for the disease still perplex vast clinicians. Therefore,
development of new therapeutic approaches for ADPKD is currently very much desired.
Conclusion: This review will center on pathogenesis of ADPKD, and thereafter gene transfer will be
discussed as potential treatment for the disease. New therapeutic interventions will bring further hope
to improve prognosis of this incurable disease.