alport syndrome - nephritic

Question 1

what is aport syndrome?

Answer 1

(mutation in type IV collagen -component of the basement membrane of the kidneys , eyes , and chochlea

Question 2

etiology of ALPORT SYNDROME

Answer 2

x linked recessive inheritance = therefore more severe in males

Question 3

clinical features of aport syndrome ?

Answer 3

often asymtomatic

intermittent macroscopic hematurea - nephritic

SENSORINEURAL HEARING LOSS - high freq

retinitis pigmentosa -night blindness is often the initial sign
tunnel vision due to loss of the peripheral retina (occasionally referred to as funnel vision)

((cant pee , cant see , cant hear a bee))

Question 4

diagnosis of aport syndrome ?

Answer 4

skin biopsy - absence if collagen 4 alpha 5 chants

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kidney biopsy

renal biopsy: splitting of lamina densa seen on electron microscopy

EM = SPLITTING AND THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE - BASKET WEAVE APPEARANCE

immunostaining - absence of type 4 collagen in basement membrane

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molecular genetic testing

Question 5

treatment of aport syndrome ?

Answer 5

only definitive treatment is kidney transplant

Question 6

what is seen on clouds in aport syndrome?

Answer 6

progressive renal failure

Question 7

what is seen on urine dipstick for aport syndrome?

Answer 7

microscopic haematuria