Polycystic Kidney Disease (PKD)

Question 1

What is PKD?

Answer 1

A genetic condition where the kidneys develop multiple fluid-filled cysts

Question 2

Is PKD inherited in an autosomal dominant or autosomal recessive pattern?

Answer 2

Both (but dominant is more common)

Question 3

Describe the investigation and diagnosis of PKD

Answer 3

• Ultrasound

- Genetic testing

Question 4

Which chromosomes and genes are associated with inheritance of the autosomal dominant type of PKD?

Answer 4

• PKD 1 gene (chromosome 16) - 85% of cases

- PKD 2 gene (chromosome 4) - 15% of cases

Question 5

What are the typical extra-renal manifestations of PKD?

Answer 5

• Cerebral aneurysms
• Hepatic, splenic, pancreatic, ovarian and prostatic cysts
• Mitral regurgitation
• Aortic root dilatation

Question 6

Which drug can be used in PKD to slow the development of cysts/progression of renal failure?

Answer 6

Tolvaptan