3: Polycystic Kidney Disease

Question 1

What is polycystic kidney disease

Answer 1

Genetic condition that causes multiple cysts to form on the kidney

Question 2

What are the two types of PKD

Answer 2

• ADPKD

- ARPKD

Question 3

When does ADPKD onset

Answer 3

Adulthood - typically 30-years

Question 4

When does ARPKD onset

Answer 4

Childhood

Question 5

What causes ADPKD

Answer 5

Mutation chromosome 16 (85%)

Mutation chromosome 4

Question 6

What chromosome is mutated in ARPKD

Answer 6

Mutation chromosome 6

Question 7

Explain clinical presentation of ADPKD

Answer 7

• Asymptomatic until cyst is large enough
• CKD
• Flank pain = cyst rupture
• Nephrolithiasis

Question 8

How does extra-renal ADPKD present

Answer 8

• Berry aneurysm = SAH
• CV: HTN, Mitral Valve Prolapse, LVH
• Diverticula
• Hepatic cysts (70%)

Question 9

What is associated with 70% of ADPKD

Answer 9

Hepatic cysts

Question 10

What is first-line investigation for ADPKD

Answer 10

USS

Question 11

How many cysts must be present in 15-40year-olds to define ADPKD

Answer 11

3 Cysts

Question 12

How many cysts must be present in 40-60 year-olds to define ADPKD

Answer 12

2 Cysts per kidney

Question 13

How is ADPKD managed

Answer 13

• Maintain Fluid

- Control BP

Question 14

What medication is given specifically for ADPKD

Answer 14

Tolvaptan

Question 15

What is the MOA of tolvaptan

Answer 15

Vasopressin receptor antagonist

Question 16

When is tolvaptan indicated

Answer 16

Gault progression in CKD3 or 4