Causes And Diagnosis Of Alport Syndrome

Alport syndrome is a disorder that damages the kidney’s small blood vessels, as well as creating eye issues and hearing loss. The disease is an inherited form of nephritis or kidney inflammation caused by a gene mutation. The symptoms of Alport syndrome remain limited at first, but after time passes, the glomeruli of the kidney become increasingly damaged. The glomeruli filter the blood, creating urine and removing other waste from the blood system. When the glomeruli can no longer function appropriately, the kidney can no longer function and waste products in the body increase. Eventually, the kidneys become damaged, and end-stage renal disease occurs. During this phase of the illness, dialysis or a kidney transplant may be necessary. The symptoms of Alport syndrome are somewhat similar to those of a bladder infection. Some of them include abnormally colored urine, blood in the urine, pain in the flanks, elevated blood pressure, and swelling through the body. Continue to learn about the causes of Alport syndrome and how it is diagnosed now.

Gene Mutation

The cause of Alport syndrome is a mutation of the type IV collagen genes, which consist of a family of six protein chains called alpha-1 through alpha-6. The alpha-3, alpha-4, and alpha-5 gene chains are the specific causes of Alport syndrome. Specifically, Alport syndrome consists of AXAL, ARAS, and ADAS syndromes.

AXAL, or X-linked inheritance Alport syndrome, is the most common diagnosis for those with Alport syndrome, occurring about eighty percent of the time in such patients. Autosomal recessive inheritance Alport syndrome (ARAS), occurs in about fifteen percent of Alport cases. ARAS is caused by mutations in the chains Alpha-3 and Alpha-4 of the IV collagen gene. ADAS, or autosomal dominant inheritance Alport syndrome, where the alpha-3 and alpha-4 chains are mutated, is the rarest form of this disorder. About five percent of individuals diagnosed with Alport syndrome have this specific type of the syndrome.

Continue reading to learn more about the causes of Alport syndrome now.