Alport Syndrome: Symptoms, Diagnosis, Facts, Treatment

What is called Alport Syndrome?
Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis, end stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes (lenticonus). The presence of blood in the urine (hematuria) is almost always found in this condition.
What are the symptoms of Alport Syndrome?
Alport Syndrome always affects the kidneys. Many people with Alport Syndrome also have hearing problems and abnormalities of the eyes, because the type IV collagen proteins are important to the normal structure and function of the inner ear and the eye.
Kidneys: The central feature of the disease is the presence of blood in the urine (hematuria). Boys with X-linked Alport Syndrome develop hematuria in infancy, and it is always present. The great majority of girls with X-linked Alport Syndrome also have hematuria, but it may come and go The hematuria of Alport Syndrome is usually microscopic, meaning it can only be detected with a microscope or a urine dipstick. Sometimes children with Alport Syndrome have brown, pink or red urine ( gross hematuria) for several days, brought on by a cold or the flu. This gross hematuria will go away on its own and while it may be frightening, it is not harmful.
As boys with Alport Syndrome grow, they begin to show other signs of kidney disease, including protein in the urine and high blood pressure. These symptoms are often present by the time the boys are teen-agers. Girls with Alport Syndrome usually do not have protein in the urine and high blood pressure until much later in life, but occasionally these symptoms appear in teen-aged girls with Alport Syndrome.
Ears:Deafness is another important feature of Alport Syndrome. About 80% of boys with Alport Syndrome will develop deafness at some point in their lives, often by the time they are teen-agers. The deafness affects both ears. Fortunately, hearing aids are usually very effective in these people. Girls with Alport Syndrome may also develop deafness, but less frequently than boys, and usually later in life. Kidney transplantation does not improve the deafness of Alport Syndrome.
Eyes:About 15% of men with Alport Syndrome have an abnormality in the shape of the lens called anterior lenticonus. People with anterior lenticonus may have some problems with their vision, and may develop cataracts.
How is Alport Syndrome diagnosed?
Currently, diagnosis of Alport Syndrome relies on careful evaluation of the patient's clinical features, family history and results of tissue biopsies. Alport Syndrome produces unique changes in the walls of the blood vessels of the glomeruli that can be detected by electron microscopy of kidney biopsy material. Kidney biopsies can also be tested for the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains. This information is often very helpful in confirming a suspected diagnosis of Alport Syndrome. An alternative diagnostic procedure is skin biopsy. The type IV collagen alpha-5 chain is normally present in the skin. In most men with the X-linked form of Alport Syndrome the alpha-5 chain is completely missing from the skin.
How common is Alport syndrome?
Alport syndrome occurs in approximately 1 in 50,000 newborns.
How is Alport Syndrome treated?
Currently there is no specific treatment for Alport Syndrome. The same treatments that are used in people with high blood pressure and other symptoms of kidney disease are used in people with Alport Syndrome. Kidney transplantation is usually very successful in people with Alport Syndrome, and is the best treatment when end-stage kidney failure is approaching.

Medical researchers are very interested in understanding why people with Alport Syndrome develop kidney failure, and in developing treatments that can slow or prevent the development of kidney failure. Several treatment approaches are being tested in animals with Alport Syndrome. Nowadays, with the development of modern medical technology, the traditional Chinese Medicine, Natural Immune Balance Treatment, Cells Treatment and other methods are proved useful for Alport Syndrome.