PCKD

Question 1

Autosomal ________ PCKD is the most common inheritied kidney disease

Answer 1

Autosomal Dominant

Question 2

85% of AD-PCKD are linked to having an abnormality on chromosome ___.

The other 15% have an abnormality on chromosome ___.

Answer 2

16

4

Question 3

AD-PCKD have two phenotypes….

PKD1 and PKD2

Which one is typically more severe?

Answer 3

PKD1

Question 4

What imaging modality is typically used for AD-PCKD screening and diagnosis?

Answer 4

US

Question 5

Is AD-PCKD screening recommended for children?

Answer 5

No

Question 6

Can a patient with AD-PCKD present with anemia?

Answer 6

Yes

Question 7

What UA findings may be present in a patient with AD-PCKD?

Answer 7

Hematuria
Proteinuria
Bacteriuria
Pyuria

Question 8

What are FIVE examples of extra-renal manifestations of AD-PCKD?

Answer 8

Cerebral aneurysms

Hepatic and pancreatic cysts

Cardiac valve disease

Colonic diverticula

Abdominal wall and inguinal hernia

Question 9

What are renal manifestations of AD-PCKD?

Answer 9

Progressive Renal Failure (Proteinuria, Hematuria)
Increase in kidney size (Up to 5x as large)
Nephrolithiasis / Flank Pain
Anemia

Question 10

T/F: Renal Cell Carcinoma is not linked to AD-PCKD

Answer 10

False

It is

Question 11

When you cerebral aneurysm screening be recommended in a patient with AD-PCKD?

Answer 11

High-Risk Patients…..

1. Previous Rupture
   2, FHx of intracranial bleeding
2. Warning Sx (Headaches)
3. LOC

Question 12

What % of patients with AD-PCKD end up on dialysis?

Answer 12

~ 50%

Question 13

Although there are no proven treatments to slow AD-PCKD progression…..

What have been shown to promising therapies?

Answer 13

1. Vasopressin Receptor Antagonists
2. Increase Fluids
3. RAAS Inhibitors
4. BP Control