Autosomal dominant polycystic kidney disease


  • 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

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here