Symptoms of Alport Syndrome
Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities. Symptoms typically begin in childhood, and the first sign of the condition is usually the presence of blood in the urine (hematuria). Other symptoms of kidney disease can include having protein in the urine (proteinuria). Over time, an affected person may experience swelling (edema), bone weakening, and joint pain (osteodystrophy). Without treatment, affected individuals will experience end-stage renal disease.

Alport syndrome also causes sensorineural hearing loss, or hearing loss that is due to the inner ear or the nerves not working properly. Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes. Most commonly, affected individuals have an eye finding called anterior lenticonus, which causes the lens to become cone-shaped. Other affected individuals may have abnormal coloration of the retina (dot-and-fleck retinopathy), which can sometimes lead to vision loss. Some individuals may experience maculopathy, or damage to the part of the eye (macula) that allows for central vision.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO). The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.