Polycystic kidney disease

Definition

A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.

Also known as fibrocystic renal disease, PKD - polycystic kidney disease, polycystic kidney disease — per MONDO

Also identified as

• DOID 0080322 per MONDO
• MESH D007690 per MONDO
• NCIT C75464 per MONDO
• SCTID 82525005 per MONDO
• UMLS C0022680 per MONDO

Affected Organs