Alport syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Alport syndrome?
A nephrologist (a kidney doctor) usually treats Alport syndrome. An audiologist (a hearing specialist) helps with hearing loss, and an ophthalmologist (an eye doctor) helps with eye problems. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Alport syndrome?
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It damages the tiny filtering units in the kidneys called glomeruli. Glomeruli are clusters of tiny blood vessels that remove waste from the blood and make urine. Over time, the kidneys lose their ability to filter well. The condition occurs in about 1 in 50,000 newborns.
Symptoms
Almost all affected people have blood in their urine (hematuria). This is often the first sign. Other signs can include:
- High levels of protein in the urine (proteinuria).
- High blood pressure.
- Swelling in the legs, ankles, feet, and around the eyes.
- Hearing loss that starts in late childhood or early adolescence. This kind of hearing loss comes from problems in the inner ear.
- Misshapen lenses in the eyes and abnormal coloration of the retina. The retina is the light-sensitive tissue at the back of the eye. These eye problems seldom lead to vision loss.
Over time, the kidneys gradually lose their ability to remove waste products from the body. This can lead to end-stage kidney disease, which is kidney failure.
Causes and who gets it
Variants (changes) in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes carry the instructions for one part of a protein called collagen IV. Collagen IV is important in the glomeruli of the kidneys. With abnormal collagen IV, the kidneys cannot filter blood well. Blood and protein pass into the urine, and the kidneys slowly scar. Collagen IV is also important in the inner ear and the eye, which is why hearing and vision can be affected.
Alport syndrome is passed down through families in three patterns. About two out of three cases are X-linked, from a change in the COL4A5 gene. In males, one changed copy can cause kidney failure and other severe symptoms. In females, it usually causes blood in the urine, but some have more severe symptoms. About 15 percent of cases are autosomal recessive, where a child gets a changed copy of COL4A3 or COL4A4 from each parent. About 20 to 30 percent are autosomal dominant, where one changed copy is enough.
How doctors diagnose it
Doctors look at symptoms, family history, and a clinical exam. The chance of a diagnosis goes up in people with a family history, kidney failure without a known cause, early hearing loss, or blood in the urine. Tests can include:
- A urine test to find protein and blood in the urine.
- A blood test to check protein and waste levels, and a GFR (glomerular filtration rate) test to see how well the kidneys filter waste.
- A kidney biopsy, where a tiny piece of kidney is removed with a special needle and looked at under a microscope.
- A hearing test and a vision test.
- A genetic test to confirm the diagnosis and find the genetic type.
Treatment
There is no cure for Alport syndrome, and no treatment has been shown to completely stop kidney decline. The goal is to treat the symptoms and help slow the progression of kidney disease. ACE inhibitor or ARB medicines (medicines to control high blood pressure) are the main treatment used to slow kidney damage. Diuretics (water pills) can help with swelling. Limiting sodium (salt) in the diet also helps.
When kidneys fail, dialysis can do some of the kidney's work, such as filtering waste from the blood. A kidney transplant is the preferred treatment for people with end-stage kidney disease and is usually very successful in people with Alport syndrome. Hearing aids help with hearing loss when needed. Surgery to remove cataracts is done when necessary.
When to see a doctor
See a doctor if you find blood in your urine, or if your child has hearing loss or protein in the urine. If a close family member has Alport syndrome, ask a doctor about testing. Swelling in the legs, ankles, feet, or around the eyes and high blood pressure can also be signs of Alport syndrome, so tell your doctor about them. Call 911 or go to the emergency room if you have trouble breathing, chest pain or discomfort lasting two minutes or more, fainting, or sudden confusion.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can check your urine and blood pressure and refer you to a kidney specialist. He or she can also help you keep up with hearing and eye checkups over time.
Common questions
Is Alport syndrome inherited?
Yes. It is passed down through families. About two out of three cases are X-linked, and the rest are autosomal recessive or autosomal dominant.
What is the first sign of Alport syndrome?
Blood in the urine (hematuria) is the most common and earliest sign. It can be found early in life.
Can a kidney transplant help?
Yes. A kidney transplant is the preferred treatment for end-stage kidney disease and is usually very successful in people with Alport syndrome.
Does Alport syndrome affect hearing?
Yes. Many people develop hearing loss in late childhood or early adolescence. Hearing aids help when needed.
Sources
- MedlinePlus Genetics - Alport syndrome
- National Organization for Rare Disorders - Alport Syndrome
- National Kidney Foundation - Alport Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
