Occurring in approximately 1 in 50,000 newborns, Alport syndrome is a genetic condition that causes progressive loss of kidney function resulting in end-stage kidney disease (ESKD). Learn more about Alport syndrome including how it can affect your kidneys and other organs, what signs to look for, how it’s diagnosed, and what treatment options are available.*

What is Alport syndrome?

Alport syndrome is a genetic disease that damages the tiny filtering units inside the kidneys called glomeruli (glom-AIR-yoo-lye), which can lead to kidney scarring and kidney disease. It can also cause hearing loss and issues with your vision. 

What are the causes?

Alport syndrome is inherited and passed down through families. It is caused by genetic changes (mutations) to a protein called type 4 collagen. Your body uses fibrous collagen proteins to make connective tissue. Collagen helps to provide normal structure and function of many organs, including the kidneys, eyes, and ears. Type 4 collagen is involved in the development and function of glomeruli.

What are the genetic types of Alport syndrome?

Alport syndrome has three different genetic types:

• X-linked Alport syndrome (XLAS) is the most common form, and accounts for approximately 80% of Alport syndrome cases. 
• Autosomal recessive Alport syndrome (ARAS) occurs when both parents carry the abnormal gene and pass the gene to their child. 
• Autosomal dominant Alport syndrome (ADAS) occurs when only one parent has the disease and passes the abnormal gene to the child. 

What are the signs and symptoms?

With all types of Alport syndrome, the kidneys are affected. Some signs and symptoms patients may experience are:

• Progressive bilateral (both sides) hearing loss at an early age
• Eye abnormalities, particularly involving the cornea, lens, and retina
• Hematuria (blood in the urine), which is the most common and earliest sign of Alport syndrome
• Proteinuria (protein in the urine)
• High blood pressure 
• Edema (swelling) in the legs, ankles, feet, and around the eyes

How is it diagnosed?

If you have a family history of Alport syndrome, informing your healthcare team will be key for early diagnosis and disease management. Some tests and exams your doctor may order to diagnose Alport syndrome include: 

• Urine test to detect any protein and blood in your urine
• Blood test to calculate your kidney function, or estimated glomerular filtration rate (eGFR), and track levels of protein and waste in your blood
• Kidney biopsy to examine your kidney tissue under a microscope
• Hearing test
• Vision test
• Genetic test to confirm the diagnosis and determine the type of Alport syndrome you may have

How is it treated? 

There is currently no specific treatment for Alport syndrome. Alport syndrome is managed by treating the symptoms and slowing the progression of kidney disease. This may include medications and techniques to remove excess fluid in the body, minimize further fluid retention, and lower blood pressure. Common ways of achieving these goals include:

• ACE inhibitor or ARB medications
• Diuretics 
• Low sodium (salt) diet 

Where can I find more information?

Two trusted resources for further information about Alport syndrome are:

• Alport Syndrome Foundation 
• National Kidney Foundation 

*Alport Syndrome. (2022, September 19). National Kidney Foundation. Retrieved October 4, 2022, from https://www.kidney.org/atoz/content/alport