Alports Syndrome (Hereditary Nephritis)

Disorder of type IV collagen matrix

Aetiology

  • X-linked mutation in COL4A5 gene leads to deficient collagenous matrix deposition

Clinical presentation

  • Suspect in patients with microscopic haematuria +/- hearing loss in the early years
  • Haematuria is the characteristic feature
  • Proteinuria seen later but confers bad prognosis
  • Extra renal manifestations:
    • Sensorineural deafness
    • Ocular defects - anterior lenticonus
    • Leiomyomatosis of oesophagus/genitalia - rare

Investigations

  • Renal biopsy - variable thickness of the glomerular basement membrane is the characteristic feature
    • Due to splitting of the lamina densa

Management

  • No specific treatment
  • Standard aggressive treatment of BP, proteinuria
  • Dialysis/transplantation