Alport syndrome Fast Facts

Alport syndrome Fast Facts

If you or a loved one has recently been diagnosed with Alport syndrome, learning some basic facts can help you better understand this disease.

For a long time it was believed that Alport syndrome was an untreatable disease. In recent years researchers have learned many things about this disease, including what causes kidney failure in Alport syndrome patients and which treatments can delay disease progression, thus postponing the need for dialysis and kidney transplantation. These new advances are very encouraging.


Fast Facts:

  • Alport syndrome is a rare disease caused by genetic mutations that affect the type IV collagen family of proteins in the connective tissue or basement membranes of the kidneys, ears and eyes.
  • The disease always affects the kidneys, causing damage to the connective tissue that can lead to a decline in kidney function.
  • Alport syndrome also causes hearing loss and vision problems, although some families with Alport syndrome do not experience one or both of these symptoms. Hearing loss is more common than vision problems and can be corrected with hearing aids.
  • The most common genetic type of Alport syndrome is X-linked Alport syndrome (XLAS). The majority of males with XLAS experience kidney failure between 20 – 40 years of age and will require dialysis or a kidney transplant.
  • Some females with XLAS are impacted similarly to males but most see later disease progression because of the way the disease is inherited. Because females often have milder symptoms, they may believe they are simply carriers; however, as many as 12% of female patients develop kidney failure by the age of 40; this rate increases to 30% by the age of 60 years and 40% by age 80. So it is just as important to monitor female patients as males.
  • Male and female patients that have Autosomal Recessive and Autosomal Dominant Alport syndrome (ARAS and ADAS) experience equal symptoms.
  • Much has been learned about Alport syndrome in recent years, but it is still often misdiagnosed or undiagnosed. An early and accurate diagnosis is important because there are medications that can prolong kidney function and the sooner they are started the more effective protection they can provide.
  • An Alport syndrome diagnosis often affects multiple family members so it is very important that all family members are screened for the disease.
  • As a disease classified as both rare and orphan, Alport syndrome receives relatively little attention and funding. By raising awareness and funds, ASF is working to change this to make Alport syndrome a treatable disease and find a cure!

ASF encourages all patients to connect with others for support and information on our Facebook pages. If you have specific questions, please contact us at [email protected] or at (480) 800-3510.

 

Additional Resources:
What Is Alport syndrome? on ASF website
5-Part Series on Alport syndrome by Dr. Clifford Kashtan
Clinical Practice Recommendations – Synopsis for Families by Dr. Clifford Kashtan
Alport syndrome Treatments and Outcomes Registry  (US patient registry)



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