Polycystic kidney disease

Question 1

Pathophysiology of autosomal dominant polycystic kidney disease?

Answer 1

Because of mutation in PKD - 1 + PKD -2

The two genes stop cysts to form so when one is mutated cysts can form

Cysts can also occur in liver, seminal vesicles, pancreas, Vasculature.

Mostly happens in adults

Question 2

Pathophysiology of autosomal recessive Polycystic kidney disease?

Answer 2

Is a mutation on both copies of PKHD1

PKHD1 makes fibrocystin protein which stops cyst formation so because of mutation cysts start forming

It can cause renal failure before birth

Cause pulmonary hypoplasia

Cause potter sequence

Cause hepatic fibrosis

Question 3

Treatment for polycystic kidney disease?

Answer 3

Hypertension:
- angiotensin converting enzyme inhibitors

Cholestasis:
-urosidal(slows cholesterol metabolism)

Renal failure:
- Dialysis
- Transplant

Portal hypertension:
- Portocaval shunt
- Transplant