Polycystic kidney disease
Patients with autosomal dominant inheritance usually manifest symptoms at middle age; symptoms include abdominal pain, hematuria, and high blood pressure. Hypertension is very common and precedes the onset of overt renal dysfunction. Complications specific to renal cysts include cyst rupture, cyst infection, and nephrolithiasis.
Patients may develop brain aneurysms and liver cysts. Typically this has a strong familial pattern, and the risk of cerebral aneurysm in patients with PKD is highest in those who have family members with the same.
Patients with autosomal recessive inheritance present at a young age with progressive renal failure and hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6.
Treatment is supportive with main focus on blood pressure control, proteinuria management, and decreasing any other risks of kidney disease progression. No specific treatment has been shown to prevent or delay progression of renal dysfunction.
Q61.3 – Polycystic kidney, unspecified
28728008 – Polycystic kidney disease, adult type
28770003 – Polycystic kidney disease, infantile type
- Acquired cystic kidney disease – associated with chronic kidney disease, kidneys should be small to normal in size and there would be no family history of PKD
- Multiple benign simple cysts (see renal cysts) – more common in adulthood
- Localized cystic kidney disease
- Medullary sponge kidney
- Bilateral parapelvic cysts