Alport syndrome is a genetic disease that primarily affects the kidneys but can also affect the eyes and ears, which can present as having hearing loss in one or both ears. Both males and females can be affected by sensorineural hearing loss in either one or both ears beginning in early childhood or sometimes appearing later in life. This disease runs in families, and while most people are born with it, it can spontaneously occur due to genetic mutations. Alport syndrome is caused by problems with three genes that control the shape of certain body parts and mutations in the genes that produce collagen.
The severity of Alport Syndrome depends on a variety of factors, including genetic type and variant. As kidney damage worsens, you may have high blood pressure. Blood in your urine is common in Alport syndrome, which can even appear in infancy. As kidney damage worsens, you may have high blood pressure and protein in your urine. There are multiple genetic types of Alport syndrome, including Recessive Alport Syndrome (ARAS), autosomal dominant (ADAS), and X-linked Alport syndrome (XLAS). With XLAS, males commonly experience disease progression more rapidly than females. However, all females with XLAS should be monitored and treated as patients rather than just "genetic carriers". Research shows that up to 30% of females with XLAS experience kidney failure by the age of 60. With ARAS, both males and females are at risk for more rapid disease progression at earlier ages compared to other forms of Alport syndrome. With ADAS, it is the most common type but the picture is less clear, ranging from no disease symptoms for many individuals to kidney failure for some. More research is needed to understand which genetic variants of people with ADAS are at higher risk for symptoms. Another genetic type of AS is called Digenic (more than one gene affected), but it needs more research. It's important to know what genetic type of Alport syndrome you have to understand your risk ofkidney failure.
If your doctor thinks you or your child might have Alport syndrome, they may perform the following tests might be done to make a diagnosis:
- Genetic tests: this is the gold standard for accurately diagnosing Alport syndrome. If you are diagnosed with AS, your relatives could be requested to do a genetic test via cheek swab, spit in a tube, or blood test
- Urine tests: Urinalysis
- Blood tests: Complete blood count, blood urea nitrogen (BUN), eGFR, and Creatinine
- Urine and/or genetic tests on relatives
- Hearing and vision tests
- Kidney ultrasound
- Kidney biopsy
- Skin biopsy: do not detect all genetic types of AS and may not be primarily tested
Treatment for Alport syndrome includes monitoring and treating symptoms. Your doctor may recommend limiting salt and potassium as well as taking medications that can protect your kidneys, such as Angiotensin converting enzymes (ACEs) or Angiotensin receptor blockers (ARBs) to control high blood pressure.
Your doctor may also recommend genetic counseling. Understanding your family history can lead to early detection and ongoing monitoring. As kidney function decreases, a preemptive kidney transplant is the goal; however, dialysis may be needed as an interim step before transplant can be performed. Fortunately, kidney transplants have been very successful for people with Alport syndrome.
From the Alport Syndrome Foundation
The Alport Syndrome Foundation offers guides to empower patients and families with the knowledge and support they need. Learn how you can support Alport Syndrome research by joining the ASF Alport Patient Registry. Your participation helps advance studies that may lead to new treatments.
Other resources
More information about Alport syndrome, its symptoms, diagnosis and treatment can be found at the following websites:
