ADPKD

Question 1

What is the genetic inheritance pattern of ADPKD?

Answer 1

Autosomal dominant

ADPKD is associated with chromosome 16.

Question 2

At what age do symptoms of ADPKD typically present?

Answer 2

30s-40s

Cysts are present early in life but become clinically significant (i.e., increasing­ BP and increasing RFTs) in adulthood.

Question 3

What causes hypertension in ADPKD patients?

Answer 3

Increased RAAS due to compression of kidney microvasculature

Enlarging cysts compress the microvasculature.

Question 4

What condition is associated with ADPKD?

Answer 4

Saccular (berry) aneurysms

These can occur in the circle of Willis and pose a risk for subarachnoid hemorrhage.

Question 5

What is the highest yield point regarding NBSMV in ADPKD?

Answer 5

Serial blood pressure checks are preferred over circle of Willis MR angiogram screening

circle of Willis MR angiogram is only done with a positive family history of SAH or saccular aneurysms.

Question 6

What protein is associated with ADPKD?

Answer 6

Polycystin

This protein is crucial for cilia function on renal epithelium.

Question 7

What is the most common extra-renal location for cysts in ADPKD?

Answer 7

Liver

Cysts are found in 85% of patients by age 30.

Question 8

Fill in the blank: Cysts in ADPKD become clinically significant as _______.

Answer 8

adults

Symptoms typically present in the 30s-40s.

Question 9

Renal cysts can occasionally develop in other conditions, such as

Answer 9

Chronic dialysis patients

Question 10

ADPKD can present as

Answer 10

HTN, hematuria, and recurrent flank pain in patient in 30s-40s

Question 11

Treatment of ADPKD is

Answer 11

Supportive; may include vasopressin 2 receptor antagonists (tolvaptan)