Inherited
cystic kidney diseases, including
autosomal dominant polycystic kidney disease (
ADPKD) and
autosomal recessive polycystic kidney disease (
ARPKD), are the most common monogenetic causes of
end-stage renal disease (
ESRD) in children and adults. While
ARPKD is a rare and usually severe pediatric disease, the more common
ADPKD typically shows a slowly progressive course leading to
ESRD in adulthood. At the present time there is no established disease-modifying treatment for either
ARPKD or
ADPKD. Various therapeutic approaches are currently under investigation, such as
V2 receptor antagonists, somatostatins, and
mTOR inhibitors. Renal function remains stable for decades in
ADPKD, and thus clinically meaningful
surrogate markers to assess therapeutic efficacy are needed. Various studies have pointed out that total kidney volume (TKV) is a potential surrogate parameter for disease severity in
ADPKD. Recent trials have therefore measured TKV by magnet resonance imaging (MRI) to monitor and to predict
disease progression. Here, we discuss novel insights on
polycystic kidney disease (PKD), the value of MRI, and the measurement of TKV in the diagnosis and follow-up of PKD, as well as novel emerging therapeutic strategies for
ADPKD.