What is Alport Syndrome?

Children and adults of all ages and races can have genetic mutations that cause Alport syndrome.

Alport syndrome is genetically passed down in families from parents to children, though sometimes it can occur spontaneously and you might be the first one in your family to have it.

• Blood in the urine (hematuria)
• Protein in the urine (proteinuria)
• High blood pressure (hypertension)
• Hearing loss (bilateral or unilateral sensorineural)
• Eye abnormalities (anterior lenticonus, macular degeneration, cataracts, dot and fleck retinopathy, temporal retinal thinning, corneal erosion, etc.)

Alport syndrome is caused by genetic mutations in a person’s DNA. Individuals with Alport syndrome typically have defects in their COL4A3, COL4A4, or COL4A5 genes (or a combination of these).

The mutation causes a protein called type IV collagen to form incorrectly. Type IV collagen is a building block of the basement membranes found in the kidneys, inner ears, and eyes. Because these tissues don’t have the proteins they need, the affected organs may begin to lose function over time.

There is currently no cure for Alport syndrome and no FDA-approved therapies to treat this specific disease.

However, there are medications that can help reduce some of the renal symptoms and prolong kidney function.

For many years, the most common way of diagnosing Alport syndrome was through a kidney biopsy. In a kidney biopsy, a small sample of tissue is taken using a needle that is placed through the skin and into the kidney. The sample is then examined under a microscope by experts.

No-charge/minimum-charge genetic testing (based on insurance coverage) has recently become available to more patients and can be done with a simple blood test, cheek swab, or saliva samples.