Cystic disease and tumors of the kindey Flashcards Preview

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Flashcards in Cystic disease and tumors of the kindey Deck (23):
1

Cystic renal dysplasia

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

2

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

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

3

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

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

4

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

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

5

WHat is the prominence of dysplasia, ARPKD, APKD?

most
APKD 500
Dysplasia 1,000
ARPKD 50,000

LOOK AT CHART

6

Is medullary sponge common?

yes and innocuous

7

What is nephronophthisis?

Medullary cystic disease complex: pediatric onset CKD

8

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

yes 7%/10years

9

Simple cysts

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

10

What are the two benign kidney tumors? Describe them

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

11

What is the triad of renal cell carcinoma?

flank pain
mass
hematuria

12

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

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

13

Where do renal cell carcinomas metastasize to ?

lung and bones, inferior vena cava involvment

14

Where do clear cell renal cell carcinomas arise from?

proximal tubular epithelium

15

What gene is inactivated in clear cell RCC?

VHL

16

What is the treatment for RCC?

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

Targeted therapies:
multikinase inhibitors
monoclonal antibodies to VEGF
mTOR inhibitors

17

Papillary RCC?

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

18

Chromophobe RCC?

5%
-multiple chromosomal losses
-distal nephron
-morphologic overlap with oncocytoma
-prominent cell membrane vegetable like
-prognosis in the absence of sarcomatoid component

19

urothelial carcinoma

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

20

Wilms Tumor clinical presentation

mass 75%
25% with other developmental abnormalities

Beckwith
WAGR
Denys-drash

21

What is the epidemiology of Wilms tumor?

pediatric
-children >10 2-5 yo

22

What is the pathogenesis of Wilms tumor?

mutations in WT1, WT2, loss of function mutation
-recapitulates nephrogenesis
-nephrogenic rest=putative precursor lesion of WT

Triphasic
-malignant bastema
-tubules
-stroma

23

Whats the treatment and survival rate of Wilms tumor?

90% five ear survival
-surgery with/without chemo
-chemosensitive