Autosomal recessive Alport syndrome
Type of disease: Rare conditions
Autosomal recessive Alport syndrome is a genetic condition that affects a person’s kidneys, eyes, and hearing. Almost everyone with autosomal recessive Alport syndrome will have blood in the urine (hematuria) and most will have protein in the urine (proteinuria). As time goes on, autosomal recessive Alport syndrome continues to damage the kidneys and can lead to kidney failure in some people. Other features of autosomal recessive Alport syndrome include hearing loss, which typically starts in late childhood or early teenage years, and eye abnormalities, which includes an abnormal shape to the lens (anterior lenticonus) and abnormal coloration to the back of the eye (retina). Eye changes in autosomal recessive Alport syndrome usually do not affect vision.
Autosomal recessive Alport syndrome is caused by changes (mutations) in either the COL4A3 or the COL4A4. These genes provide the instructions for the body to make type IV collagen, which is a protein needed for proper kidney blood vessel function, inner ear formation, and eye shape. As the name suggests, autosomal recessive Alport syndrome is inherited in an autosomal recessive way. This means a mutation in both copies of either the COL4A3 gene or the COL4A4 gene a person has is needed to cause the condition. Unlike X-linked Alport syndrome, males and females can be equally affected by this form of the condition.
Autosomal recessive Alport syndrome is considered in a person with kidney issues and hearing loss. Genetic testing is used to confirm the diagnosis. Treatment can involve medications to help kidney function. In severe cases, kidney transplant may be needed. Hearing aids can help with hearing loss. If your child has been diagnosed with autosomal recessive Alport syndrome, talk with their doctor to discuss current treatment options. Support groups can provide additional information.