Alport Syndrome

Alport Syndrome

Pathology:                    Xlinked disease causing glomerulonephritis and deafness


Aetiology:                     Mutationof COL4A -  affects alpha3,4 and 5 chain production in type IV collagen


Symptoms:                   Haematuria


Signs:                              Sensorineuraldeafness, cataracts, conical cornea, lenticonus


Investigations:          Bloods: FBC, U&E, Clotting

Imaging: Renal ultrasound

MSU: Urine dipstick – Haematuria and proteinuria

Biopsy: Skin or Renal – demonstrate abnormalities incollagen


Treatment:                  Patient Education: Genetic counselling,lifestyle changes

Medical: ACE inhibiters, treatment of CKD complications

                                          Surgical: Transplantation


Complications:          Chronicrenal failure, hypertension


Prognosis:                    Prognosisis better in females than males


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