110314 congenital and cystic renal dis Flashcards Preview

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Flashcards in 110314 congenital and cystic renal dis Deck (18)
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1
Q

cyst

A

fluid filled structure lined by epithelium

2
Q

most common congenital kidney disorder

A

horseshoe kidney

3
Q

which pts have an increased incidence of horseshoe kidney

A

Turner’s syndrome

4
Q

cystic diseases ex

A

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

5
Q

autosomal recessive PKD is due to what gene

A

PKHD1 gene

6
Q

how can autosomal recessive PKD be diagnosed?

A

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

7
Q

ARPKD

A

enlarged kidneys at birth

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

8
Q

morphology of ARPKD

A

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

9
Q

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

A

25-40

10
Q

gene that’s mutated in ADPKD?

A

PKD1 or PKD2

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

11
Q

ADPKD cyst formation–you’d see

A
abnormal differentiation of epithelial cells
high proliferation rate
secretion of fluid into cysts
abnormal ECM
interstitial fibrosis
12
Q

renal manifestations of ADPKD

A
renal:
hematuria, mild proteinuria
HTN
progressive renal failure
infections
stones
pain
13
Q

extrarenal manifestations of ADPKD

A
hepatic cysts (40%)
intracrnial aneurysms (10-30%)--check if has persistent headache or family hx
14
Q

how do pts present for ADPKD?

A

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

15
Q

medullary sponge kidney

A

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

16
Q

acquired cystic disease

A

develop in 50% of pts on dialysis

usually asymptomatic, but may have bleeding or pain

17
Q

where are cysts in acquired cystic disease usually?

A

cortex

18
Q

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

A

EM