What is Alport's syndrome?

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

How is Alport's syndrome inherited?

X-linked dominant pattern

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

When does Alport's syndrome usually present?

childhood

What are the main features of Alport's syndrome?

• progressive renal failure
• hearing loss
• eye abnormalities

What eye changes are seen in Alport's syndrome?

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

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

splitting of lamina densa seen on electron microscopy

How is Alport's syndrome diagnosed?

• genetic testing
• renal biopsy