Cystic disease and tumors of the kindey

Question 1

Cystic renal dysplasia

Answer 1

1. abnormality in metanephric differentiation
2. persistence of immature elements: undifferentiated mesenchyme, cartilage

Associated abnormalities:

1. ureto-pelvic junction obstruction
2. ureteral agenesis/atresia

kidneys enlarged
irregular shape
bunch of grapes

Question 2

What can agenesis or bilateral dysplasia of the kidney result in?

Answer 2

1. oligohydramnios (decreased amniotic fluid)
2. hypoplastic lungs
3. potter’s syndrome

Question 3

What happens in Childhood Autosomal Recessive polycystic kidney disease? What is the gene involved?

Answer 3

PKHD1, 6p, fibrocystin

1. Enlarged reniform (kidney like) shape
2. Cross section: sponge like appearance
3. Saccular dilation of collecting tubules

Liver: cysts+ portal fibrosis+proliferation of portal bile ducts–>congenital hepatic fibrosis

Question 4

What happens in Adult polycystic kidney disease? What is the gene involved?

Answer 4

Typical presentation: asymptomatic or pain, colic, mass, hemorrhage, hematuria, progressive renal failure, polyuria, HTN, low proteinuria

Autosomal dominant

1. enlarged mass of cysts
2. functioning nephrons dispersed between cysts
3. hepatic cysts (40%)
4. intracranial berry aneurysms (4-10%)
5. mitral valve prolapse (20-25%)

Prognosis: renal failure in middle age/later in life

Treatment: transplantation

PKD1
PKD2-less severe

Question 5

WHat is the prominence of dysplasia, ARPKD, APKD?

Answer 5

most
APKD 500
Dysplasia 1,000
ARPKD 50,000

LOOK AT CHART

Question 6

Is medullary sponge common?

Answer 6

yes and innocuous

Question 7

What is nephronophthisis?

Answer 7

Medullary cystic disease complex: pediatric onset CKD

Question 8

Can acquired cystic disease(cortical and medullary cysts) from dialysis lead to renal cell carcinoma?

Answer 8

yes 7%/10years

Question 9

Simple cysts

Answer 9

very common
usually asymptomatic
multiple or single
differential diagnosis-cystic cancer?
hemorrhage pain calcification ]s

Question 10

What are the two benign kidney tumors? Describe them

Answer 10

1. oncocytoma
   - distal nephrons
   - mahogany brown with central scar
   - eosinophilic cytoplasm
   - abundant mitochondria
2. angiomyolipoma
   -vessels/smooth muscle/fat
   tuberous sclerosis vs sporadic
   TSC1, TSC2
   -smooth muscle and melanocytic markers
   -vessels are malformed and can rupture

Question 11

What is the triad of renal cell carcinoma?

Answer 11

flank pain
mass
hematuria

Question 12

What are some paraneoplastic syndromes that you can get with renal cell carcinoma?

Answer 12

1. polycythemia
2. hypercalcemia
3. HTN
4. hepatic dysfunction
5. feminization/masculinization
6. cushing syndrome
   7/ eosinophilia
7. leukemoid reacitons
8. amyloidosis

Question 13

Where do renal cell carcinomas metastasize to ?

Answer 13

lung and bones, inferior vena cava involvment

Question 14

Where do clear cell renal cell carcinomas arise from?

Answer 14

proximal tubular epithelium

Question 15

What gene is inactivated in clear cell RCC?

Answer 15

VHL

Question 16

What is the treatment for RCC?

Answer 16

-extremely chemoresistant
-surgery including metastasectomy
-cytoreductive surgery+immunotherapy/targeted therapy
Immunotherapy: IL2 INF alpha

Targeted therapies:
multikinase inhibitors
monoclonal antibodies to VEGF
mTOR inhibitors

Question 17

Papillary RCC?

Answer 17

1--25%
prognosis better than clear
-papillary architecture 
-hereditary -multiple bilateral tumors with papillary histology vs sporadic 
-cystic
-trisomies 7,16,17 
chromosome 7-MET protooncogene 

_macrophages in papilla

Question 18

Chromophobe RCC?

Answer 18

5%

• multiple chromosomal losses
• distal nephron
• morphologic overlap with oncocytoma
• prominent cell membrane vegetable like
• prognosis in the absence of sarcomatoid component

Question 19

urothelial carcinoma

Answer 19

5-10% of renal tumors
-adults
-renal pelvis ureters, also concomitant urinary bladder cancer
analgesic nephropathy= risk factor

Question 20

Wilms Tumor clinical presentation

Answer 20

mass 75%
25% with other developmental abnormalities

Beckwith
WAGR
Denys-drash

Question 21

What is the epidemiology of Wilms tumor?

Answer 21

pediatric

-children >10 2-5 yo

Question 22

What is the pathogenesis of Wilms tumor?

Answer 22

mutations in WT1, WT2, loss of function mutation

• recapitulates nephrogenesis
• nephrogenic rest=putative precursor lesion of WT

Triphasic

• malignant bastema
• tubules
• stroma

Question 23

Whats the treatment and survival rate of Wilms tumor?

Answer 23

90% five ear survival

• surgery with/without chemo
• chemosensitive