Polycystic kidney disease

Question 1

What is polycystic kidney disease?

Answer 1

A genetic condition where healthy kidney tissue is replaced with many fluid-filled cysts

Question 2

What genes are affected in polycystic autosomal dominant PKD?

Answer 2

PKD1 gene on chromosome 16
PKD2 gene on chromosome 4

Question 3

What are the extra renal manifestations of PKD?

Answer 3

Cerebral aneurysms - berry aneurysm
Hepatic, splenic, pancreatic, ovarian and prostatic cysts
Mitral regurgitation
Colonic diverticula

Question 4

What are the complications of PKD?

Answer 4

Chronic loin/flank pain
Hypertension
Gross haematuria if cyst ruptures
Recurrent UTIs
Renal stones
End stage renal failure

Question 5

What investigations are used in the diagnosis of PKD?

Answer 5

Ultrasound
Genetic testing

Question 6

What is the management of PKD?

Answer 6

Antihypertensives - ACE inhibitors
Analgesia
Antibiotics for infections
Drainage of symptomatic cysts
Dialysis for end stage renal failure
Renal transplant