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Alport Syndrome

Alport syndrome is a genetic anomaly that causes progressive loss of kidney function. Kidneys are in charge of eliminating toxins from the blood into the urine. This filtration action is performed by one million glomeruli that are able to separate waste from the bloodstream thanks to a special membrane, called the glomerular basement membrane, or GBM.

People with Alport syndrome are unable to synthesize and use a certain substance (type IV collagen) that is one of the components of the GBM. This results in an abnormal filtering with the consequent accumulation of waste in the body, hematuria and loss of protein due to proteinuria. Type IV collagen is also needed in other body areas besides kidneys. Alport syndrome also affects ears and eyes membranes.

Causes Of Alport Syndrome

Alport syndrome is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. This prevents the proper production or assembly of alpha3, alpha4 and alpha5 chains of type IV collagen. Lacking this protein, the body cannot adequately build the glomerular base membrane (GBM) and thus kidneys lose capabilities.

The mutation is present in genes that are in the X chromosome. For this reason, males (who have only one X chromosome) usually have worse symptoms and manifestations of the syndrome, while women (who may have one healthy X chromosome) often experience less severe symptoms. As with all X-linked genetic disorders, it can only be passed to a child by his mother.

Symptoms Of Alport Syndrome

Alport syndrome is characterized by presence of blood in urine (hematuria), proteinuria, and progressive failure of renal functions. Other symptoms include impairment to hear and a reduction of visual capabilities. People with Alport syndrome often have an unusual discoloration of the retina and misshapen anterior lenses in the eyes.

Treatment Of Alport Syndrome

Symptoms of Alport syndrome are treated specifically. For instance, proteinuria can be fought against with ACE inhibitors. Also, some studies suggest that a bone marrow transplantation may help in the treatment of Alport syndrome. When kidney failure occurs, the patient with Alport syndrome will need dialysis or a kidney transplant.

Living With Alport Syndrome

Usually, people suffering from Alport syndrome are otherwise generally healthy. Other than performing regular dialysis, they can usually have a normal life. Kidney transplantation can make a patient’s life even better. However, in some rare cases, Alport anti-GBM disease (in which the host’s immune systems attacks the new kidney’s GBM) may appear, which destroys the transplant most of the times.