Flashcards in Cystic disease and tumors of the kindey Deck (23):
Cystic renal dysplasia
1. abnormality in metanephric differentiation
2. persistence of immature elements: undifferentiated mesenchyme, cartilage
1. ureto-pelvic junction obstruction
2. ureteral agenesis/atresia
bunch of grapes
What can agenesis or bilateral dysplasia of the kidney result in?
1. oligohydramnios (decreased amniotic fluid)
2. hypoplastic lungs
3. potter's syndrome
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
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
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
WHat is the prominence of dysplasia, ARPKD, APKD?
LOOK AT CHART
Is medullary sponge common?
yes and innocuous
What is nephronophthisis?
Medullary cystic disease complex: pediatric onset CKD
Can acquired cystic disease(cortical and medullary cysts) from dialysis lead to renal cell carcinoma?
multiple or single
differential diagnosis-cystic cancer?
hemorrhage pain calcification ]s
What are the two benign kidney tumors? Describe them
-mahogany brown with central scar
tuberous sclerosis vs sporadic
-smooth muscle and melanocytic markers
-vessels are malformed and can rupture
What is the triad of renal cell carcinoma?
What are some paraneoplastic syndromes that you can get with renal cell carcinoma?
4. hepatic dysfunction
6. cushing syndrome
8. leukemoid reacitons
Where do renal cell carcinomas metastasize to ?
lung and bones, inferior vena cava involvment
Where do clear cell renal cell carcinomas arise from?
proximal tubular epithelium
What gene is inactivated in clear cell RCC?
What is the treatment for RCC?
-surgery including metastasectomy
-cytoreductive surgery+immunotherapy/targeted therapy
Immunotherapy: IL2 INF alpha
monoclonal antibodies to VEGF
prognosis better than clear
-hereditary -multiple bilateral tumors with papillary histology vs sporadic
chromosome 7-MET protooncogene
_macrophages in papilla
-multiple chromosomal losses
-morphologic overlap with oncocytoma
-prominent cell membrane vegetable like
-prognosis in the absence of sarcomatoid component
5-10% of renal tumors
-renal pelvis ureters, also concomitant urinary bladder cancer
analgesic nephropathy= risk factor
Wilms Tumor clinical presentation
25% with other developmental abnormalities
What is the epidemiology of Wilms tumor?
-children >10 2-5 yo
What is the pathogenesis of Wilms tumor?
mutations in WT1, WT2, loss of function mutation
-nephrogenic rest=putative precursor lesion of WT