Polycystic Kidney Disease

Question 1

What is the inheritance pattern?

Answer 1

Autosomal dominant

Question 2

What genes are mutated?

Answer 2

PKD 1

PKD 2

Question 3

How is it diagnosed?

Answer 3

Ultrasound

Question 4

Where are cysts present?

Answer 4

Kidneys

Also liver

Question 5

What are complications of cysts?

Answer 5

Pain
Bleeding into cyst
Infection
Renal stones

Question 6

What is there an increased risk of?

Answer 6

Hypertension - common

Intra-cranial aneurysms
Heart valve abnormalities

Question 7

How is it managed?

Answer 7

Treat hypertension - block RAAS

Diet

• lots of fluid
• low salt

Tolvaptan