Alport Syndrome: Symptoms & Signs

Medically Reviewed on 9/10/2019

Alport syndrome is a genetic condition that involves defects in kidney function, hearing problems, and eye problems.

Signs and symptoms of Alport syndrome include blood in the urine (hematuria) and protein in the urine (proteinuria). As kidney function worsens, edema (swelling) can develop in the ankles, legs, and feet. Other associated symptoms can include hearing loss and changes in the lens of the eye that can contribute to vision loss.

Cause of Alport syndrome

Changes or mutations in the genes COL4A3, COL4A4, and COL4A5 cause Alport syndrome. These genes are responsible for the production of proteins that form a component of collagen type IV. There are different patterns of genetic inheritance in Alport syndrome, but an X-linked inheritance pattern (meaning the X chromosome carries the genetic mutation) causes most cases.

Other alport syndrome symptoms and signs

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Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.