Cystic renal disease

Question 1

Is the presence of a few renal cortical cysts in adults a cause for concern?

Answer 1

No

Question 2

What is the factor that elevates cause for concern with cysts?

Answer 2

Elevated creatinine

Question 3

What features characterize AD (adult) polycystic disease?

Answer 3

Slowly expanding cysts that compress normal tissue causing ischemic atrophy

Question 4

What are the causes of AD polycystic kidney disease?

Answer 4

1. Mutations in Polycystin-1

2. Mutations in Polycystin-2

Question 5

What are the results of Polycystin mutations

Answer 5

1. Ciliopathy
2. Defective mechanosensing of urine flow
3. Dysregulation of cell adhesion

Question 6

At what level of the nephron do cysts form?

Answer 6

Any level

Question 7

What is the theory behind the mutations of PKD

Answer 7

Two hit hypothesis.

Question 8

At what age do symptoms usually start?

Answer 8

30’s

Question 9

What are the symptoms?

Answer 9

Flank pain or a dragging sensation in the abdomen.

2. Frequent gross Hematuria
3. Hypertension develops in 75%
4. Cyst formation in the Liver
5. Cerebral vascular aneurysms
   - risk for sudden death due to rupture and subarachnoid hemorrhage

Question 10

What is the cause of AR PKD?

Answer 10

Mutations in Fibrocystin

Question 11

What is fibrosystin?

Answer 11

A protein of uncharacterized function in the cilia of tubular epithelial cells

Question 12

What are the consequences of AR PKD?

Answer 12

Immediate untreatable respiratory failure at birth due to pulmonary hypoplasia

Question 13

What is Nephronopthisis?

Answer 13

Medullary cystic disease complex AR cystic renal disease

Question 14

Where are cysts located in Nephronopthisis?

Answer 14

numerous small cysts at the corticomedullary junction

Question 15

What are other associated findings in Nephronopthisis?

Answer 15

Chronic tubulointerstitial nephritis and fibrosis