2. Cystic kidney disease

Question 1

ADPKD:
severe:
gene mutated?
protein?
chromosome?

less severe:
gene mutated?
protein?
chromosome?

Answer 1

severe:
PKD1
polycystin 1
16p

less severe:
PKD2
polycystin 2
4q

Question 2

3 symptoms of ADPHKD?

Answer 2

pain
palpable kidneys
hematuria

Question 3

3 complications of ADPKD?

Answer 3

liver cysts in 40%
berry aneurysms
cardiac valve anomalies

Question 4

ARPKD:
mutation?
protein?

Answer 4

PKHD1

fibrocystin

Question 5

how does kidney look in ADPKD?

ARPKD?

Answer 5

D - covered in cysts

R- smooth

Question 6

are liver cysts more likely in ADPKD or ARPKD?

Answer 6

ARPKD

Question 7

is ADPKD or ARPKD assocaited with lung hypoplasia?

Answer 7

ARPKD

Question 8

wt happens in medullary sponge kidnay?

Answer 8

cystic dilaiton of medulla collecting ducts

Question 9

most common cause of genetic renal disease in kid and young adults? mutations in juvenile form? inheritance pattern?

Answer 9

nephronophthisis

NPH1/2/3

autosomal recessive

Question 10

hw do kidney look in nephronopthisis? 2

Answer 10

small and granular

Question 11

where are most cysts in nephronophthisis?

Answer 11

coricomedullary junciton

Question 12

3 histo appearance in nephronopthisis?

Answer 12

tubular atrophy
thickening of basement membrane
interstitial fibrosis

Question 13

end result of nephronophthisis?

Answer 13

RI
CRF
ESRD

Question 14

first symptoms of nephronophthisis?

later symptoms?

Answer 14

polyuria and polydipsia

Na wasting and tubular acidosis

Question 15

4 extra-renal things in nephronophthisis?

Answer 15

occular motor abnormalities
retinal dystrophy
liver fibrosis
cerebellar abnormalities

Question 16

cause of dialysis associated cystic kidney disease?

rare complication?

Answer 16

tubular obstruction by fibrosis or oxalate crystals

RCC

Question 17

2 characteristics of simple cysts?

why are they significatn

Answer 17

smooth contours
avascular

must be distinguished from tumor