Genetic Disorders of Kidney

Question 1

how is ADPKD inherited?

Answer 1

autosomal dominant

Question 2

what genes are messed up in ADPKD?

Answer 2

polycystin 1 or 2

Question 3

what does polycystin regulate?

Answer 3

calcium entry into cells

Question 4

ADPKD leads to what in the kidneys?

Answer 4

tons of cysts and large kidneys

Question 5

name five common effects of ADPKD?

Answer 5

pain
hypertension
renal failure 
kidney stones
hematuria

Question 6

what type of kidney stones in ADPKD?

Answer 6

uric acid stones

Question 7

how is alport inherited?

Answer 7

x linked

Question 8

name three common issues with alport syndrome?

Answer 8

vision changes
hearing changes
hematuria

Question 9

what happens in the kidney in alport syndrome?

Answer 9

thinning and thickening of the GBM…with some splitting

Question 10

what is fabry disease a problem of?

Answer 10

alpha galactsidase….leads to intracellular accumulation of glycosphingolipids

Question 11

what enzyme is messed up in fabry disease?

Answer 11

alpha galactosidase

Question 12

how is fabry disease inherited?

Answer 12

X linked recessive

Question 13

how to treat fabry disease?

Answer 13

enzyme replacement

Question 14

what does fabry disease cause in the kidney?

Answer 14

proteinuria and renal failure

Question 15

what are three other common findings in fabry disease?

Answer 15

neurologic issues
cornea whorls
angiokeratomas