Alport Syndrome
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. Read more about genetic hearing loss.
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
