Renal Pathology 6: Cystic Disease (Dobson)

Question 1

Adult Dominant Polycystic Kidney Disease (ADPKD)

Answer 1

AD bilateral disorder; mutations in PKD1 and PKD2 gene; multiple expanding cysts that ultimately destroy the renal parenchyma and cause renal failure; doesn’t really involve nephrons so renal function is retained until later in life

Question 2

Clinical features of ADPKD

Answer 2

enlarged kidneys (abdominal palpation), induce a dragging sensation; insidious onset of hematuria followed by other features of progressive chronic kidney disease; pts with PKD2 mutations tend to have an older at onset; progression is accelerated in Blacks

Question 3

Associations of ADPKD

Answer 3

berry aneurysms (in the brain)
hepatic cysts
mitral valve prolapse

Question 4

Adult Recessive Polycystic Kidney Disease (ADPKD)

Answer 4

CHILDHOOD AR disorder; mutations in PKHD1 gene; kidneys are enlarged and have smooth external appearance; on cut section there are numerous small cysts in cortex and medulla; gives sponge-like appearance.

Question 5

Answer 5

Adult Dominant Polycystic Kidney Disease (ADPKD)

Question 6

Answer 6

Adult Recessive Polycystic Kidney Disease (ADPKD)

Question 7

Medullary sponge kidney

Answer 7

multiple cystic dilations of the collecting ducts in the medulla; on gross inspection the papillary ducts in the medulla are dilated and small cysts may be present; pathogenesis is unknown

Question 8

Nephronophthisis

Answer 8

group of progressive renal disorders that’s characterized by variable number of cysts in the medulla; usually concentrated at the corticomedullary junction; most common genetic cause of ESRD in children and young adults

Question 9

The three variants of Nephronophthisis?

Answer 9

1. sporadic, nonfamilial
2. familial juvenile nephronophthisis (most common)
3. renal-retinal dysplasia (ocular lesions)

Question 10

What is the most common genetic cause of ESRD in children and young adults?

Answer 10

Nephronophthisis

Question 11

Multicystic renal dysplasia

Answer 11

sporadic disorder that can be unilateral or bilateral; kidney is enlarged, extremely irregular and multicystic with cysts varying in size; excellent prognosis; bilateral renal failure may result

Question 12

Answer 12

Nephronophthisis

Question 13

Answer 13

Medullary sponge kidney

Question 14

Answer 14

Multicystic renal dysplasia

Question 15

Simple cysts

Answer 15

may be single or multiple, usually involve cortex; important to differentiate from renal tumors (often avascular and give fluid rather than solid signals on US), on occasion, hemorrhage into them may cause sudden distention and pain

Question 16

Answer 16

Simple cysts