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Single gene glomerular disease

Including: Alport’s syndrome; Steroid resistant nephrotic syndrome; Nail-patella syndrome


Alport’s syndrome

  • Second most common cause of inherited renal failure
  • Genetics of Alport’s syndrome
    • Most commonly deletion on X Chr on COL4A5 – encodes collagen type IV (alpha5)
    • X-linked dominant
    • Less frequently can be autosomal dominant or autosomal recessive
  • Presentation of Alport’s syndrome
    • Sensorineural deafness
    • Haematuria (common), proteinuria and hypertension
    • Nephrotic syndrome in 30-40% of young adults
    • Can get blindness due to retinitis pigmentosa
  • Associations with Alport’s syndrome
    • Ocular issues
      • Retinitis pigmentosa
      • Most common retinopathy is a “dot-and-fleck” pattern
      • Anterior lenticonus is pathognomonic
    • Anti-GBM disease
    • Leiomyomatosis
  • Work-up of Alport’s syndrome
    • Renal biopsy, genetic testing, audiometry, ophthalmic review and renal USS
  • Treatment of Alport’s syndrome
    • Screening
    • Hearing aids
    • ACE-I or ARBs if proteinuria
    • Renal transplant
      • Anti-GBM disease can occur in small number post-transplant


Steroid resistant nephrotic syndrome

  • Autosomal recessive
  • Congenital nephrotic syndrome usually presenting as focal-segmental glomerulosclerosis (FSGS) on biopsy
  • Treated with alkylating agents, calcinuerin inhibitors, diuretic and antihypertensives.


Nail-patella syndrome

  • Autosomal dominant – Chr 9 long arm 9q34
  • Nail dysplasia, absent patella and steroid resistant nephrotic syndrome
  • LMX1B gene defect causing problems with LIM homeodomain protein



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