Polycystic Kidney Disease

Question 1

What is polycystic kidney disease?

Answer 1

Genetic condition where kidneys develop multiple fluid filled cysts

Question 2

How is diagnosis of polycystic kidney disease made?

Answer 2

Ultrasound scan

Genetic testing

Question 3

What are the types of polycystic kidney disease?

Answer 3

Autosomal dominant

Autosomal recessive

Question 4

What genes are associated with ADPKD?

Answer 4

PKD-1 on chromosome 16

PKD-2 on chromosome 4

Question 5

What extra-renal manifestations of ADPKD can present?

Answer 5

Cerebral aneurysms

Cysts

• hepatic
• splenic
• pancreatic
• ovarian
• prostatic

Cardiac valve disease

Colonic diverticula

Question 6

What complications can occur with ADPKD?

Answer 6

Chronic loin pain
Hypertension
CVS disease
Renal stones
ESRD by 50

Question 7

What gene is associated with ARPKD?

Answer 7

Gene on chromosome 6

Question 8

How does ARPKD present?

Answer 8

Oligohydramnios during pregnancy

ESRD by adulthood

Question 9

How is polycystic kidney disease managed?

Answer 9

Tolvaptan 
Antihypertensives
\+/- analgesia
\+/- abx
\+/- dialysis

Regular USS + bloods

Question 10

What advice should be given to those with polycystic kidney disease?

Answer 10

Avoid contact sports
Avoid anti-inflammatory medications
Avoid anticoagulants

Question 11

What is the mechanism of tolvaptan?

Answer 11

Vasopressin receptor antagonist

Slows development of cysts and progression of renal failure