Alport Syndrome

What is Alport Syndrome? Alport Syndrome is a syndrome characterized by a gradual decline in kidney function and hearing. One in 5,000 is born with this disorder, primarily men.

Alport syndrome is a form of inherited nephritis (inflammation of the kidneys), typically developing at a young age, mostly in males. The disorder causes progressive deterioration of parts of the kidney and gradual reduction in kidney function. Some types of Alport Syndrome may also affect hearing and vision.

Cause of Alport syndrome

The cause of Alport syndrome is a mutation in a gene for collagen. The decline in kidney function may progress to the point that dialysis or a kidney transplant may be required, as the kidneys no longer are able to rid the blood of fluids and waste.

Symptoms of Alport syndrome

Symptoms of Alport syndrome include:

Hearing loss
Abnormal urine colour
Blood in the urine
Dreased vision
Cough
Body and face swelling

Any hearing loss associated with Alport syndrome is likely to be permanent.

Genetic defect in X chromosome

The genetic defect associated with Alport syndrome is typically found in the X (male) chromosome. However, women can be carriers of the disease without experiencing any symptoms and may pass the gene defect on to their children. When symptoms are present in women, the effects are usually mild or minimal. In men, the symptoms are much more pronounced and the progression of the disease rapid.

Source: www.nlm.nih.gov