In 1927, physician Arthur Cecil Alport identified a rare genetic disease that greatly damaged the kidneys. He discovered that mutations can occur in certain genes that affect type IV collagen, a component of the small filtering units in the kidneys called glomeruli. Once the glomeruli are scarred, they allow blood and protein to pass through into the urine. A person with Alport syndrome typically loses kidney function over time. Since kidney function decreases as the condition worsens, the chronic kidney disease (CKD) caused by Alport syndrome can eventually progress. Talk to your doctor about tests he or she can perform; you may be able to prolong kidney function with early detection if you have Alport syndrome.
Symptoms of Alport syndrome
Alport syndrome always affects the kidneys. Hearing loss and visual changes may also occur. If you suspect that you may have inherited Alport syndrome, look for these symptoms:
- Blood in the urine (hematuria)
- Protein in the urine (proteinuria)
- High blood pressure (also called hypertension)
- Swollen ankles, feet and legs
- Swelling around the eyes
- Swelling all over the body
Usually there is no indication that Alport syndrome exists. Typically, blood in the urine is the first sign of kidney problems. Because type IV collagen proteins contribute to the normal functioning of the eye and the inner ear, many individuals with Alport syndrome will experience vision and hearing loss.
Alport syndrome symptoms are more severe in men than women. It also progresses faster in young males. Women with Alport syndrome usually show no signs of the disease other than blood in the urine. In rare cases, a woman with this condition may have swelling, high blood pressure and nerve deafness as a complication of pregnancy.
About 80 percent of young boys with Alport syndrome can become deaf. This often happens by the time a boy reaches his teenage years, and deafness can be present in both ears. Young girls with Alport Syndrome rarely experience hearing loss, yet it can develop when a girl reaches adulthood. Around 15% of men with Alport syndrome have an abnormally shaped lens in the eye that may lead to cataracts.
Diagnosis and treatment of Alport syndrome
At this time, Alport syndrome does not have a specific treatment. If you have been diagnosed with Alport syndrome, you may be treated for high blood pressure and other kidney disease symptoms. You may be placed on a non-dialysis kidney diet that limits excess sodium, protein and phosphorus. When Alport syndrome progresses to end stage renal disease, dialysis or kidney transplantation is necessary treatment.
Your healthcare provider will have to watch your signs, symptoms, and look at your family history to know if you have Alport syndrome. The following tests or exams may be done to help your healthcare provider make a diagnosis:
- Urine test: A urine test will help find protein and blood in your urine.
- Blood test: A blood test will help find levels of protein, and wastes in your blood.
- Glomerular filtration rate (GFR): A blood test will be done to know how well your kidneys are filtering the wastes from your body.
- Kidney biopsy: In this test, a tiny piece of your kidney is removed with a special needle, and looked at under a microscope.
- Hearing test: A hearing test will be done to see if your hearing has been affected.
- Vision test: A vision test will be done to see if you vision has been affected.
- Genetic test: This can help confirm the diagnosis and determine the genetic type of Alport syndrome you may have.
Future of Alport syndrome
Researchers are studying people with Alport syndrome to understand how it develops, and recently they have isolated the gene that causes the disorder. Three gene mutations have been identified, and these discoveries have opened a way for possible gene therapy in order to treat Alport syndrome in the future.
Although Alport syndrome is uncommon, it is important to know if you are at risk for this disorder. Alport syndrome is an inherited disease that affects males more often than females. As the disease progresses, it decreases your kidney function over time, resulting in end stage renal disease. You will need dialysis or a kidney transplant at that point. Early Alport syndrome detection may help prolong kidney function. Talk with your doctor about your family medical history, any symptoms you may have and the tests you should take to determine whether or not you have Alport syndrome.