Alport syndrome is a serious, rare, inherited genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It occurs in 1 out of 50,000 newborns and it’s much more common in males than in females. In some cases, there are no symptoms. In women who are carriers of the disease, the symptoms are milder while in men they are much more severe.
Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. The condition worsens to end-stage renal disease (ESRD) early on in the affected person’s life, usually between adolescence and 40 years.
People with Alport syndrome also frequently develop hearing loss caused by problems with the inner ear in late childhood or early adolescence.
Alport syndrome is diagnosed using a combination of clinical, family history, and biopsy criteria but genetic testing is also used to confirm this diagnosis.