Polycystic Kidney Disease

Question 1

Define Polycystic kidney disease

Answer 1

a genetic condition where the healthy kidney tissue is replaced with many fluid-filled cysts.

Question 2

which gentic pattern is more common in PKD

Answer 2

Autosomal dominant

Question 3

2 PKD genes

Affected genes in autosomal dominant PKD

Answer 3

• PKD1 gene on chromosome 16
• PKD2 gene on chromosome 4

Question 4

Extra-renal manifestations of PKD

Answer 4

• Berry aneurysm formation (SAH)
• mitral valve disease (regurg)
• liver, splenic, pancreatic, ovarian and prostatic cysts
• colonic diverticula

Question 5

Autosomal Recessive PKD affected genes

Answer 5

PKHD1 on chromosome 6

Question 6

ADPKD diagnostic criteria for age 15-39

Answer 6

three bilateral renal cysts

Question 7

ADPKD diagnostic criteria for age 40-59

Answer 7

two cysts in each kidney

Question 8

ADPKD diagnostic criteria for age > 60

Answer 8

four cysts in each kidney

Question 9

Most common extra-renal manifestation of PKD

Answer 9

Hepatic cysts

Question 10

PKD pharmacological Mx

Answer 10

1. Tolvaptan - slow the development of cysts and the progression of renal failure
2. Antihypertensives (ACE-i) - to control HTN
3. Analgesia - pain control
4. Abx - infected cysts / UTI

Question 11

PKD surgical Mx

Answer 11

1. Drainage - by aspiration or surgery
2. Dialysis - for ESRF
3. Renal transplant - for ESRF

Question 12

PKD choice of imaging

Answer 12

Renal / KUB USS

Question 13

Choice of imaging for cerebral aneurysm screening in PKD

Answer 13

MR Angiography

Question 14

PKD general advice for pt

Answer 14

• Avoid contact sports - to prevent cyst rupture
• Avoid NSAIDs / anticoagulants
• Genetic counselling

Question 15

Tolvaptan drug class

Answer 15

vasopressin receptor antagonist