Molecular advances in autosomal dominant polycystic kidney disease

AR Gallagher, GG Germino, S Somlo - Advances in chronic kidney disease, 2010 - Elsevier
Autosomal dominant polycystic disease (ADPKD) is the most common form of inherited
kidney disease that results in renal failure. The understanding of the pathogenesis of
ADPKD has advanced significantly since the discovery of the 2 causative genes, PKD1 and
PKD2. Dominantly inherited gene mutations followed by somatic second-hit mutations
inactivating the normal copy of the respective gene result in renal tubular cyst formation that
deforms the kidney and eventually impairs its function. The respective gene products …