Polycystic Kidney Disease

Question 1

What is the inheritance pattern of PKD?

Answer 1

1. Mostly autosomal dominant - PKD1 gene mutation (presents in adults)
2. Autosomal recessive (presents in children)

Question 2

What is this a presentation of?

Loin pain, visible haematuria, cyst infection, renal calculi, HTN, progressive renal failure.

Answer 2

PKD

Question 3

How is suspected PKD diagnosed?

Answer 3

1. USS is modality of choice - renal cysts (generally 3 or more in each kidney)
2. Liver and pancreas cysts support diagnosis
3. Screening for intracranial aneurysms/SAH

Question 4

What is the treatment for PKD?

Answer 4

1. Water intake 3-4L/day may suppress cyst growth.
2. HTN treated with ACEi/ARBs, 2nd line thiazides, 3rd line beta blocker.
3. Treat infection and mange haematuria conservatively
4. Plan for RRT including pre-emptive transplant