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
