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Pathology
X linked disease causing glomerulonephritis and deafness
Aetiology
Mutation of COL4A - affects alpha 3,4 and 5 chain production in type IV collagen
Signs
Sensorineural deafness, cataracts, conical cornea, lenticonus
Symptoms
Haematuria
Investigations
Bloods: FBC, U&E, Clotting
Imaging: Renal ultrasound
MSU: Urine dipstick – Haematuria and proteinuria
Biopsy: Skin or Renal – demonstrate abnormalities in collagen
Treatment
Patient Education: Genetic counselling, lifestyle changes
Medical: ACE inhibiters, treatment of CKD complications
Surgical: Transplantation
Prognosis
Prognosis is better in females than males
Chronic renal failure, hypertension
Key Facts
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Key Images
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Key References
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