inherited/ congenital conditions

Question 1

what is the most common congenital kidney problem

Answer 1

horseshoe kidney

Question 2

what is renal agensis

Answer 2

congenital absent kidney

Question 3

what chromosome is ADPKD type 1

Answer 3

16 - (85%)

Question 4

what chromosome is ADPKD type 2

Answer 4

4 - (15%)

Question 5

which type if ADPKD has ESRF first

Answer 5

type 1

Question 6

what screening is offered for relatives with ADPKD and what is diagnositc

Answer 6

USS // <30 = 2 cysts // 30-59 = 2 cysts in both kidneys // 65+ = 4 cysts in both kidneys

Question 7

symptoms ADPKD

Answer 7

hypertension // UTIs // flank pain // haematuria // palpable kidney

Question 8

extra-renal manifestations ADPKD

Answer 8

liver cysts (most common) // berry aneurysm –> SAH // cardiac valve prolapse

Question 9

where do cysts arise from ADPKD

Answer 9

epithelal lining of tubules

Question 10

mx ADPKD + when is it indicated

Answer 10

tolvaptan // CKD 2 or 3, rapid progressive disease

Question 11

who commonly gets ARPKD

Answer 11

children

Question 12

where do cysts arise in ARPKD

Answer 12

collecting ducts

Question 13

what inheritance is alport’s

Answer 13

X linked

Question 14

what defect is seen in alports

Answer 14

collagen type IV –> abnormal glomerular basement membrane

Question 15

symptoms alports

Answer 15

microscopic haematuria // bilateral sensorineural deafness // renal failure // protrusion of lens into ant chamber // retinitis pigmentosa

Question 16

biopsy alports

Answer 16

electron microscopy - splitting of lamina densa

Question 17

inheritance Fabyr’s disease

Answer 17

x linked

Question 18

mutation fabyrs

Answer 18

deficiency of a-galactosidase A