It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …

Polycystic kidney disease (PKD) is a life‐threatening genetic disorder characterized by the
presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal …

In autosomal dominant polycystic kidney disease (ADPKD), the precise steps leading to cyst
formation and loss of renal function remain uncertain. Pathophysiologic studies have …

The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two
genes: PKD1 (16p13. 3) or PKD2 (4q13–23). PKD1 accounts for∼ 85% of pedigrees and is …

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.
Background The mutational mechanism responsible for cyst formation in polycystic kidney …

A second gene for autosomal dominant polycystic kidney disease (ADPKD), PKD2, has
been recently identified. Using antisera raised to the human PKD2 protein, polycystin-2, we …

Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of
multiple fluid-filled cysts that expand over time and destroy the renal architecture. Loss or …

Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of
inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by …