All::Nephrology::Diseases::Alport's syndrome

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What is Alport's syndrome?

a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities

Alport's syndrome

How is Alport's syndrome inherited?

X-linked dominant pattern

Alport's syndrome

What's the cause of Alport's syndrome?

a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane

Alport's syndrome

When does Alport's syndrome usually present?

childhood

Alport's syndrome

What are the main features of Alport's syndrome?

  • progressive renal failure
  • hearing loss
  • eye abnormalities

Alport's syndrome

What eye changes are seen in Alport's syndrome?

  • lenticonus: protrusion of the lens surface into the anterior chamber
  • retinitis pigmentosa

Alport's syndrome

What is seen in renal biopsy in Alport's syndrome?

splitting of lamina densa seen on electron microscopy

Alport's syndrome

How is Alport's syndrome diagnosed?

  • genetic testing
  • renal biopsy

Alport's syndrome