Autosomal dominant polycystic kidney disease

Definition

• A late-onset, autosomal dominant disorder characterized by the progressive development of innumerable cysts in the kidney, leading to renal insufficiency.

• Associated with mutations in the PKD1 gene on chromosome 16 (16q13.3) in 85% of patients, or the PKD2 gene on chromosome 4 (4q21–23) in approximately 15% of cases

• PKD1 encodes the protein polycystin 1.

• PKD2 encodes the protein polycystin 2.

Clinical features