110314 congenital and cystic renal dis

Question 1

cyst

Answer 1

fluid filled structure lined by epithelium

Question 2

most common congenital kidney disorder

Answer 2

horseshoe kidney

Question 3

which pts have an increased incidence of horseshoe kidney

Answer 3

Turner’s syndrome

Question 4

cystic diseases ex

Answer 4

renal dysplasia
autosomal recessive polycystic kidney disease
autosomal dominant polycystic kidney disease
medullary sponge kidney
acquired cystic disease

Question 5

autosomal recessive PKD is due to what gene

Answer 5

PKHD1 gene

Question 6

how can autosomal recessive PKD be diagnosed?

Answer 6

in utero by US (large hyperechoic kidneys, oligohydramnios, decreased urine in fetal bladder)

Question 7

ARPKD

Answer 7

enlarged kidneys at birth

associated with maternal oligohydramnios
extrarenal manifestations: hepatic fibrosis, cholangitis, portal HTN (esophageal varices and GI bleed)

Question 8

morphology of ARPKD

Answer 8

smooth kidney with numerous small cysts (cortical and medullary)

cut section: cylindrical cysts extend radially through cortex

microscopically: cysts lined by cuboidal epithelium

glomeruli are normal

Question 9

autosomal dominant PKD–family history is negative in what percent?

Answer 9

25-40

Question 10

gene that’s mutated in ADPKD?

Answer 10

PKD1 or PKD2

PKD2 mutation pts progress to renal failure at later age than PKD1

Question 11

ADPKD cyst formation–you’d see

Answer 11

abnormal differentiation of epithelial cells
high proliferation rate
secretion of fluid into cysts
abnormal ECM
interstitial fibrosis

Question 12

renal manifestations of ADPKD

Answer 12

renal:
hematuria, mild proteinuria
HTN
progressive renal failure
infections
stones
pain

Question 13

extrarenal manifestations of ADPKD

Answer 13

hepatic cysts (40%)
intracrnial aneurysms (10-30%)--check if has persistent headache or family hx

Question 14

how do pts present for ADPKD?

Answer 14

present in several ways

symptomatic presentation: usually flank pain and hematuria

multiple bilateral cysts noted incidentally on imaging

screening due to family hx with US

Question 15

medullary sponge kidney

Answer 15

no inheritance pattern
cystic dilated medullary and papillary collecting ducts
spongy appearance on pyelogram
complicated by recurrent UTIs, kidney stones, hematurias

Question 16

acquired cystic disease

Answer 16

develop in 50% of pts on dialysis

usually asymptomatic, but may have bleeding or pain

Question 17

where are cysts in acquired cystic disease usually?

Answer 17

cortex

Question 18

What form of biopsy imaging is the only one that enables you to see podocyte foot process effacement?

Answer 18

EM