Renal Cyst Disorders

Question 1

ADPKD

Answer 1

Cysts in cortex and medulla, bilateral enlargement with eventual parenchymal effacement
Pain, hematuria, HTN, UTI, can progress to RF
Can’t concentrate urine
Usually PKD1 on Ch16 (polycystin) or PDK2 on Ch 4 (same)
Berry aneurysm, MV prolapse, benign hepatic cysts, diverticulosis, ovary/testes changes
Tx: ACEIs or ARBs

Question 2

Medullary sponge kidney

Answer 2

Common and benign in terminal CT and around the calyces
Some are familial (AD)
Brush stroke calyces and Ca++ stones

Question 3

Cystic KDs

Answer 3

Cilia centrosomal issues in tubular epithelium
Cortical, smooth and avascular
risk of bleeding and renal cancer

Question 4

ARPKD

Answer 4

Bilateral enlargement
Infancy, in CDs
PKHD1 mutation (fibrocystin)
Associated with congenital hepatofibrosis
Can lead to Potter sequence
Beyond infancy: HTN, renal insufficiency, portal HTN
Tx: dialysis and transplant

Question 5

Medullary cystic disease/ Nephronopthisis

Answer 5

Inherited tubulointerstitial fibrosis and progressive renal insufficiency
Can’t concentrate urine
Hard to see cysts, shrunken kidneys
Poor prognosis