Genetic HL with Renal Disorders

Question 1

what is transmission in alport’s?

Answer 1

x linked (dom or recessive)
heterogeneous

Question 2

Type IV collagen gene in Alport’s is responsible for formation of

Answer 2

lens of the eye
cells of spiral ligament, BM & stria vascularis of cochlea
glomeruli of kidneys

Question 3

what are the clinical features of alport’s

Answer 3

kidney ears and eyes affected
progressive SNHL
kidney problems and they can progress to kidney failure with blood and proteins in the urine leading to
can have cataracts and eye problems are present

Question 4

what are 2 ways you can die suddenly outside of an accident?

Answer 4

heart attack and stroke

Question 5

what protein is abundant in the body that is a sign of poor kidney function

Answer 5

albuminuria

Question 6

why do you see hypertension with renal dysfunction

Answer 6

BP goes up when you have a high volume of fluid (more than what you need)
kidneys do this

Question 7

big risk factor of hypertension?

Answer 7

stroke because when there is so much fluid in the vessels, it doesn’t go through well clots can form and go into the brain

Question 8

having an access of fluid causes pressure in the vessels in the brain causing it to rupture

Answer 8

hemorrhagic stroke

Question 9

what criteria must be met for an Alport’s diagnosis

Answer 9

3/4 must be fulfilled
Positive family history of hematuria with or without renal failure
Electron microscope evidence of renal disease on renal biopsy
Characteristic opthalmologic signs
High frequency SNHL progressive during childhood

Question 10

what is the differential diagnosis for Alport

Answer 10

BOR

Question 11

what is different between BOR and Alport

Answer 11

bor is a problem of the arches (facial anomalies)
alport is not and will not see these facial anomalies