Polycystic Kidney Disease

Question 1

What type of condition is polycystic kidney disease?

Answer 1

Genetic condition

Question 2

What is polycystic kidney disease characterised by?

Answer 2

The presence of cysts on both kidneys

Question 3

What are the two forms of polycystic kidney disease?

Answer 3

Autosomal dominant
Autsomal recessive

Question 4

How do the cysts affect the kidneys?

Answer 4

They cause the kidneys to enlarge and lose function over time

Question 5

What is Autosomal dominant polycystic kidney disease the most common cause of?

Answer 5

Most common inherited cause of kidney disease

Question 6

What is the prevalence of ADPKD?

Answer 6

1/1000

Question 7

What are the 2 mutations associated with ADPKD?

Answer 7

PKD 1 on chromosome 16
PKD 2 gene on chromosome 4

Question 8

What is the more common mutation that causes ADPKD?

Answer 8

PKD 1 mutation on chromosome 16

Question 9

What are the main extra-renal manifestations of ADPKD?

Answer 9

Hepatic cysts
Cerebral aneurysm (subarachnoid)

Question 10

How is ADPKD diagnosed?

Answer 10

Ultrasound
Genetic testing

Question 11

What is the ultrasound diagnostic criteria for ADPKD in someone less than 30?

Answer 11

two cysts, unilateral or bilateral

Question 12

What is the ultrasound diagnostic criteria for ADPKD in someone 30-59?

Answer 12

Two cysts in both kidneys

Question 13

What is the ultrasound diagnostic criteria for ADPKD in someone older than 60?

Answer 13

Four cysts in both kidneys if aged > 60 years

Question 14

What are the main features of ADPKD?

Answer 14

hypertension
recurrent UTIs
flank pain
haematuria
palpable kidneys
renal impairment
renal stones

Question 15

When does end stage renal failure tend to occur in those with ADPKD?

Answer 15

At the mean age of 50

Question 16

What type of cerebral aneurysm is common in those with ADPKD?

Answer 16

Berry aneurysm- which can result in a subarachnoid haemorrhage

Question 17

What is Autosomal recessive polycystic kidney disease caused by?

Answer 17

A mutation on chromosome 6

Question 18

What is the difference in severity of Autosomal recessive and autosomal dominant polycystic kidney disease?

Answer 18

Autosomal recessive is rarer and a lot more severe

Question 19

What does autosomal recessive PKD usually result in?

Answer 19

Non-viable pregnancy or death in early infancy

Question 20

How can autosomal recessive PKD result in a non-viable pregnancy or early death?

Answer 20

Due to oligohydramnios as the baby doesn’t produce enough urine

Question 21

What can oligohydramnios result in?

Answer 21

Underdevelopment of the lungs- respiratory failure

Question 22

How can a child with autosomal recessive PKD present?

Answer 22

With features of Potter’s syndrome secondary to oligohydramnios

Question 23

What occurs in all patients with autosomal recessive PKD?

Answer 23

Liver scarring

Question 24

What would a renal biopsy of autosomal recessive polycystic kidney disease show?

Answer 24

Multiple cylindrical lesions at right angles to the cortical surface

Question 25

What is the first line management of ADPKD?

Answer 25

Tolvaptan

Question 26

What is tolvaptan?

Answer 26

Vasopressin receptor 2 antagonist

Question 27

How does Tolvaptan work?

Answer 27

Slows the progression of cyst development and renal insufficiency

Question 28

What are the other forms of management for ADPKD?

Answer 28

Antihypertensives- hypertension
Analgesia- renal colic related to stones or cysts.
Antibiotics for infection. Drainage of infected cysts
Dialysis for ESRF
Renal transplant ESRF

Question 29

What is used to screen for polycystic kidney disease?

Answer 29

Ultrasound