Alport syndrome

Question 1

What is alport syndrome

Answer 1

genetic disorder causing glomerulonephritis, end-stage kidney disease, and hearing loss from microvascular damage from type IV collagen mutation

Question 2

What are the genetic types of alport syndrome

Answer 2

X lined 80% - kidney failure by 40 in men
Autosomal recessive
Autosomal dominant

Question 3

Symptoms of alport sundrome

Answer 3

GLomerulonephritis
Sensorineural hearing loss progressive
Lenticonus
Haematuria
Proteinura
HPTN
OEdema
Thirst and polyuria
Fatigue
SOB
Other ERSD features

Question 4

What is lenticonus

Answer 4

bulging of the lens capsule and the underlying cortex

Question 5

Risk factors for alport

Answer 5

family history of Alport’s syndrome
family history of thin basement membrane nephropathy
family history of microscopic haematuria
microscopic haematuria

Question 6

Investigations

Answer 6

Kdiney biospy
Urine investigations including immunostainging for alpha chains

Question 7

Medications for alport syndrome

Answer 7

ACEinhibitors or ARB
Dialysis
Kidney transplant preferred