Polycystic kidney disease
Patients with autosomal dominant inheritance usually manifest symptoms at around 30 years of 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 who have had aneurysms.
Children with autosomal recessive inheritance often manifest in the first decade of life and may develop progressive renal failure and hepatic fibrosis. The autosomal recessive trait is associated with mutations to the PKHD1 gene.
Treatment is supportive and focuses 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
28770003 – Polycystic kidney disease, infantile type
765330003 – Autosomal dominant polycystic kidney disease
Differential Diagnosis & Pitfalls
- 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