What Your Test Results Mean:

Carriers are not expected to show symptoms. Some carriers of this type of Alport syndrome are unaffected while others develop a less severe condition called thin basement membrane nephropathy, which is characterized by blood in the urine. You and your partner would both have to be carriers of COL4A3-related Alport syndrome for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Alport syndrome can be caused by changes in a variety of genes. Carrier testing for genes related to Alport syndrome of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

We recommend that you share and discuss this information with all of your health care providers. Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning and their own personal clinical management.

Disease Explained:

Alport syndrome, COL4A3-related is an inherited disorder caused by abnormal type IV collagen production. It is characterized by kidney disease, sensorineural hearing loss, and sometimes eye abnormalities such as cataracts. Blood in the urine (hematuria) and high levels of protein in the urine are typically the first signs of the disorder, followed by hearing loss. Kidney failure may occur in the teenage years but may not develop until as late as 40-50 years of age.

Prognosis:

Prognosis for Alport syndrome, COL4A3-related depends on the severity of symptoms of the individual, which may vary. Affected individuals typically develop end-stage kidney failure by their fourth or fifth decade in life.

Treatment:

Treatment for Alport syndrome, COL4A3-related, is symptomatic. Individuals are typically given medication--such as an ACE inhibitor--to help control high blood pressure. Kidney dialysis or transplantation is available for those with end-stage renal disease. Additionally, individuals may benefit from a hearing aid or surgery to remove cataracts.