Polycystic kidney disease: Trends in research and diagnosis

Polycystic kidney disease (PKD) represents one of the most important causes of end stage renal disease and also one of the most common examples of a group of inherited disorders. PKD has a myriad of clinical expressions, providing a priori evidence of genetic variation in some circumstances and environmental influence in others. Although dialysis, transplantation, screening of individuals at risk and genetic counselling is improving patient survival and understanding of the conditions that form this group of disorders, we have no treatment that will modify the course of renal deterioration in the presence of cyst formation. A growing research effort is directed at increasing our understanding of the pathophysiology of PKD, employing techniques as diverse as human population genetics to studies of DNA sequencing. A common thread that unites most models of the condition is the concept that the condition is the product of genetic predisposition and environmental circumstance. While such research has yet to provide cures, valuable information on the genetics of clinical disorders and the pathology of renal maldevelopment is rapidly accumulating.