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Alport syndrome: Treatment, symptoms, advice and help

About alport syndrome

Alport syndrome is a genetic disorder affecting the kidneys, ears and eyes. It is also called ‘hereditary nephritis’ due to the inflammation of kidneys. It is a very serious condition which may lead to kidney failure in a majority of the affected patients.

Alport syndrome: Incidence, age and sex

Alport syndrome is an X- linked genetic disorder which is more prevalent in men as compared to women. It may appear at any age but more commonly shows itself in young adulthood.

Causes and prevention of alport syndrome

A genetic defect in gene COL4A5 results in blockage of synthesis of a tissue building component by the name of ‘collagen type IV’. This collagen is normally needed in synthesis of a filtering membrane of kidney called glomerular basement membrane which acts as a sieve for filtering blood through kidneys. Lack of type IV collagen causes defective synthesis of glomerular basement membrane which in turn causes impaired filtration in kidneys. Not only kidneys, but eyes and ears also need type IV collagen for its tissue building. Genetic counselling is the only preventive strategy for this disorder.

Signs and Symptoms of alport syndrome: Diagnosis

Though alport syndrome is an inherited disorder, the clinical features are not seen before patient reaches young adulthood. It may go unnoticed until the patient presents with complaints of passing blood in urine. Physical examination may show high blood pressure. Other symptoms like hearing loss and progressive increase in refractory power of eyes may occur concurrently. Clinical features like loss of appetite, nausea and generalised weakness may occur when kidneys fail to function properly.

Alport syndrome: Complications

High blood pressure may be seen as a result of defective filtration in the kidneys. The most alarming complication of alport syndrome is kidney failure which is seen in majority of patients. This may occur in the 3rd or 4th decade. Kidney failure if ignored, will result in death.

Alport syndrome: Treatment

This disorder can be confirmed by kidney biopsy in which a small specimen of kidney tissue is taken and microscopically examined. Microscopic urine analysis may reveal blood and protein in urine which signify defective filtration process in kidneys. It is advisable to get regular eye examinations due to continuous deterioration of vision. Unfortunately there seems to be no definitive treatment of this disorder. Some medications like ACE inhibitors not only help to reduce the blood pressure, but also delay the commencement of kidney failure. Dialysis and kidney transplant are the mainstays of treatment in a patient who has developed kidney failure.