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Alport Syndrome Diagnosis


2012-10-15 16:55

Alport syndrome is a hereditary disease. As many patients may develop renal failure at a very young age, early diagnosis and treatment is very important. The diagnosis of alport syndrome is performed using some of the following methods:

Family history

As alport syndrome is a genetic kidney disease, family history is an important clue in diagnosis of the disease. If there is a family history of the disease, the family members should be screened to see if they are affected by the disease. It is an important reference in diagnosis of alport syndrome.

Medical history and physical examination

Medical history and physical examination like urinalyses and blood testing. The first sign of alport syndrome is usually blood in urine.

Renal biopsy

Renal biopsy is used to test a sample of kidneys. Alport syndrome produces unique changes in the walls of the blood vessels of the glomeruli that can be detected by performing electron microscopy on the kidney biopsy material. In alport syndrome, the kidney biopsy can show presence or absence of the type IV collagen alpha-3,alpha-3 etc.

Skin biopsy

If you are suspected to have X-linked alport syndrome, a skin biopsy can be performed. The type IV collagen alpha-5 is normally present in the skin. Skin biopsy can test the presence or absence of this collagen chain to help the diagnosis of the disease.

Genetic testing

If you can not get a definite diagnosis after the above tests, genetic testing should be performed. Therefore, However, this test is expensive and time consuming. Therefore, it is still not widely available. Up to now, genetic analysis should be limited to prenatal diagnosis.


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