Alport syndrome quiz
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Alport syndrome is a rare condition that is caused by a mutation in one of the genes responsible for collagen production. Follow-up with a doctor can help reduce damage to various organs affected.
What is alport syndrome?
Alport syndrome is an inherited genetic condition caused by a mutation in one of the genes that produces collagen, a building block of the body.
Alport syndrome can cause kidney problems, hearing loss, and eye pain and vision problems. It is also sometimes associated with certain types of tumors and blood vessel problems. Alport syndrome is a rare condition that affects approximately 1/50,000 newborns.
There is no cure for Alport syndrome, but close follow up with your doctor can help to reduce or prevent damage to organs like the kidneys, eyes, and ears.
You should go see your primary care doctor in the next 24 hours. Diagnosis is based on having the right symptoms, genetic testing, and doing blood tests to determine kidney function. Treatment is with medications (ACE inhibitors) and referred to a nephrologist for long term management.
Alport syndrome symptoms
Symptoms of Alport syndrome can be categorized by urinary and kidney-related symptoms, ear, and eye symptoms, smooth muscle tumors and abnormal blood vessels.
Urinary and kidney-related symptoms
Urinary symptoms may be present as early as childhood, like blood in the urine, or may develop later in life, like frothy urine.
- Blood in the urine: Also called hematuria, this will initially involve a small amount of blood in the urine, such that it cannot be seen with the naked eye and can only be noticed when urine is tested in a laboratory. Eventually, people with Alport Syndrome can have episodes of visible blood in their urine that occur usually before the age of 10 years old. The bloody urine is painless.
- Frothy urine: This usually occurs at a later age (16 to 35 years old) and occurs because prolonged damage to the kidneys causes protein to be lost in the urine.
- High blood pressure and swelling of the body: This occurs at a later age due to prolonged kidney damage preventing the kidneys from effectively producing urine.
Ear and eye symptoms
Symptoms related the ears and eyes may develop, including:
- Hearing loss on both sides: Most people with Alport Syndrome develop hearing loss in both ears that begins with being unable to hear high-pitched noises, but then progresses to being unable to hear conversational speech. The hearing loss will begin during childhood and worsen during adulthood.
- Blurry vision or changes: Vision changes or blurry vision is caused by the development of cataracts, which is when the normally clear crystalline lens of the eye becomes cloudy and doesn't let as much light into the eye. Vision loss can also occur if changes occur in the back of the eye, which normally focuses the images we see.
- Eye pain: This is caused by damage to the cornea, which is the clear surface of the eye.
Smooth muscle tumors
A small percentage of people with Alport Syndrome may develop smooth muscle tumors known as leiomyomas. Details include:
- Location: These tumors can occur in the respiratory system, the gastrointestinal system, or the female reproductive system.
- Usually painless
- Inhibitive: These tumors can interfere with normal functions, such as breathing, digestion, and fertility.
Abnormal blood vessels
Rarely, Alport Syndrome can cause parts of the large blood vessel leaving the heart to bulge outward. This usually does not cause any symptoms but can cause:
- Discomfort if they become too large
- A risk of rupture
Alport syndrome causes
Alport Syndrome is a genetic disease caused by a mutation in certain genes that produce proteins called type IV collagen, which are important components of the tissue found in the kidneys, the ear, and the eye. There are a few ways that Alport Syndrome is passed on in families:
- Autosomal dominant inheritance: In autosomal dominant Alport Syndrome, only one side of the family must have the mutation for Alport Syndrome to pass it on to children.
- Autosomal recessive inheritance: In autosomal recessive Alport Syndrome, both sides of the family must the mutation for Alport Syndrome to pass it on to children.
- X-linked inheritance: In X-linked Alport Syndrome, the disease is usually passed from a mother who has the mutation for Alport Syndrome to her son.
Treatment options and prevention for alport syndrome
Alport Syndrome is a chronic condition that cannot be cured. Therefore, treatment is focused on regularly monitoring for damage to the organs and managing any damage that does occur. Specific treatments include seeing your physician regularly, medications to slow kidney damage, lifestyle adjustments and further supportive medications, dialysis, kidney transplant, eye treatments, and hearing aids.
Seeing your doctor at least once a year
Once you have been diagnosed with Alport Syndrome, or if your physician suspects you may have Alport Syndrome, you should see your physician at least once a year. He or she will:
- Examine your urine: This is to look for blood or protein, which can indicate that damage is happening to the kidneys.
- Make further recommendations: It is possible you may be recommended to follow-up with a nephrologist (kidney doctor) and see a genetic counsellor.
Medications to slow the progression of damage to the kidneys
If you develop signs that suggest your kidneys are being damaged, your physician may recommend that you start medications that slow the progression of kidney damage. These include:
- Lisinopril (Prinivil)
- Enalapril (Vasotec)
- Ramipril (Altace)
- Losartan (Cozaar)
Further medications and lifestyle changes
If kidney damage occurs to the point that you begin experiencing high blood pressure or swelling of the body, likely due to imbalanced minerals in the blood, your physician can recommend various medications and lifestyle changes to relieve the symptoms. These include:
- Diuretics: Such as furosemide (Lasix), which will increase the amount of urine you make
- Diet: Limiting the salt, potassium and phosphate you eat
- Sodium bicarbonate (Neut): Used to maintain a balance of acid and base levels
- Calcium or vitamin D: To help maintain healthy bones
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If enough damage occurs to the kidneys and they are unable to perform their normal function, your physician may recommend that you begin dialysis, which is a treatment that performs the function of the kidneys. Usually, dialysis is required until a kidney transplant can be performed.
There are two main forms of dialysis:
- Peritoneal dialysis: A tube is placed into the abdomen and fluid is exchanged through a membrane in the abdomen.
- Hemodialysis: A tube is placed into a blood vessel in the arm, and fluid is exchanged in a machine connected to the tube.
The best long-term treatment for a kidney damaged by Alport Syndrome is a kidney transplant. This surgery replaces your kidney with a healthy one from a donor. After the kidney transplant, Alport Syndrome will not recur in the donor kidney.
Eye treatments or surgery
If Alport Syndrome causes damage to your eyes that results in eye pain or blurry vision, your physician can refer you to an eye doctor, who can evaluate whether you would benefit from having an eye treatment or surgery. Possible treatments include:
- Lubricating eye drops
- Wearing protective contact lenses
- Surgery to remove cataracts
- Surgery to repair damage to the back of the eye
If Alport Syndrome causes hearing loss, your physician can recommend that you wear hearing aids.
When to seek further consultation for alport syndrome
If you develop any symptoms of Alport Syndrome, such as blood in your urine, swelling in the body, hearing loss, eye pain, or blurry vision, you should see your physician. He or she can order tests to determine if you have Alport Syndrome.
If any family members have been diagnosed with Alport Syndrome, you should see your physician. He or she can order tests to see if you have the genetic mutation that causes Alport Syndrome.
Questions your doctor may ask to determine alport syndrome
- Have you been feeling more tired than usual, lethargic or fatigued despite sleeping a normal amount?
- Is your fever constant or come-and-go?
- How severe is your fever?
- Has your fever gotten better or worse?
- How long has your fever been going on?
Self-diagnose with our free Buoy Assistant if you answer yes on any of these questions.
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- Kashtan CE. Clinical manifestations, diagnosis, and treatment of Alport syndrome (hereditary nephritis). Kim MS, ed. UpToDate. Waltham, MA: UpToDate Inc. UpToDate Link