Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common
monogenic kidney disease, is caused by mutations in the PKD1, PKD2 or, in a very limited
number of families, GANAB genes. Although cellular and molecular mechanisms of this disease
have been understood in the past 20 years, specific therapy approaches remain very little.
Both experimental and clinical studies show that the mammalian or mechanistic target of rapamycin
(mTOR) pathway plays an important role during cyst formation and enlargement in
ADPKD. Studies in rodent models of ADPKD showed that mTOR inhibitors had a significant
and long-lasting decrease in kidney volume and amelioration in kidney function. In the past
over ten years, researchers have been devoting continuously to test mTOR inhibitors efficacy
and safety in both preclinical studies and clinical trials in patients with ADPKD. In this review,
we will discuss the mTOR pathway thoroughly, mainly focusing on current advances in
understanding its role in ADPKD, especially the recent progress of mTOR inhibitors use in
preclinical studies and clinical trials.
Treatment of autosomal recessive and autosomal dominant polycystic kidney disease
