Hearing loss has many possible causes. One of the known causes is Alport syndrome, also known as hereditary deafness and nephropathy.
What Is Alport Syndrome?:
Alport syndrome is a genetic kidney disease, meaning it can be inherited. It results from genetic damage (mutations) in special proteins that are essential for normal function at a few sites in the body, including the kidneys, eyes and ears. Based on the type of mutations and which chromosomes are affected, these may have more or less loss of function.
About one in every 5,000 babies is born with Alport syndrome. Its most classic form affects boys more seriously than girls. Another form, called autosomal recessive or autosomal dominant, affects boys and girls equally (in terms of severity).
Symptoms of Alport Syndrome:
Alport syndrome has several symptoms. One early early symptom of kidney dysfunction is small amounts of blood in the urine. One may also experience swelling of the ankles, feet or leg.
Progressive kidney disease also results in high blood pressure, which is very important to control.
Alport syndrome can also cause the eye lens to change shape over time, which may require frequent changes in one's eyeglass prescription.
Hearing Loss in Alport Syndrome:
People with Alport syndrome are born hearing. If they develop related deafness, it typically happens in childhood or during the early teenage years. Most boys with Alport syndrome will develop hearing loss earlier than girls, who usually don't develop hearing loss until much later in their lives. This hearing loss is most often permanent.
Kidney Failure in Alport Syndrome:
Unfortunately, having Alport syndrome means that the kidneys experience chronic renal failure. The chronic renal failure can be managed with diet and other means. However, someone with Alport syndrome will eventually develop end-stage renal disease, which is a total failure of the kidneys. This means they have to go on dialysis or have a kidney transplant. Males with Alport syndrome are more likely to lose their kidneys than females.
Support for People with Alport Syndrome:
The main source of support for people with Alport syndrome is the Alport Syndrome Foundation. The foundation provides information and supports research, as well as sponsors symposiums, so you may find connecting with it useful in your quest to better understand Alport syndrome.
Sources
Alport Syndrome Foundation, https://www.alportsyndrome.org/, accessed November 2009
Alport syndrome: Medline Plus Medical Encyclopedia, accessed November 2009
