Alport syndrome

Alport Syndrome is a genetic disorder characterized by mutations in the COL4A3, COL4A4, and COL4A5 genes, which encode certain components of type IV collagen in the basement membranes, predominantly affecting the glomerular, ocular, and cochlear regions. This condition can follow various inheritance patterns and is characterized by heterogeneous clinical manifestations. Renal involvement can range from isolated hematuria with normal renal function to progressive nephropathy characterized by hematuria, proteinuria, and chronic kidney failure that may progress to end-stage renal disease. Affected individuals often have sensorineural hearing loss and specific ocular abnormalities.

Why undergo this genetic test?

The genetic test is performed when there is a clinical suspicion of Alport Syndrome. Molecular confirmation of the disease provides new important insights into the diagnosis, monitoring, prevention, and treatment of Alport Syndrome. Additionally, in cases where a pathogenic variant is identified, it can be sought in first-degree relatives.

When is it recommended?

The genetic test is recommended when there is a diagnosis or clinical suspicion of Alport Syndrome. This condition may be considered in individuals with a personal or family history of:

• Chronic kidney failure
• Hematuria (blood in the urine) or microhematuria
• Proteinuria
• Neurosensory deafness
• Ocular abnormalities (such as lenticonus or retinopathies)
• First-degree relatives with clinical suspicion or confirmed diagnosis of Alport Syndrome

How is it done?

For the test to be performed, a blood sample is required.

How to prepare?

It is recommended to bring any medical reports related to previous clinical examinations that are relevant to the indication for the genetic test.