Symptoms and Causes of Alport syndrome

8 June, 2009 No Comment

Alport syndrome is a rare disorder that is passed on genetically. It is a type of kidney disease which results in the inflammation of the kidney. It affects the blood vessels in the kidney that are responsible for cleaning the waste. Alport syndrome starts with an infection of the kidney, then becomes chronic renal failure, and finally advances to the end stage of renal disease. The syndrome is more prevalent among men. Women tend to be carriers who pass on the disease to the next generation.

Causes
Mutations in the genes collagen, COL4A3, COL4A4, and COL4A5 are said to cause Alport syndrome. These genes are important components for the kidney, ear and eyes. Due to the mutations of these genes in the kidney it is unable to filter the waste and hence blood and proteins enter the urine. This causes gradual deterioration of the kidneys ultimately leading to complete kidney failure.

Symptoms of Alport Syndrome
The symptoms are not obvious initially. The vessels present called glomeruli are affected and this slowly leads to accumulation of waste and fluids in the kidney. This deterioration of the kidney is manifested in the form of blood in the urine. Primarily the efficient functioning of the kidney is affected. Just as the syndrome is more prevalent among men the symptoms are also more severe as compared to women. The symptoms include presence of blood in the urine, change in the color of urine, swelling of the feet, swelling around the eyes and overall swelling of the body, decreased vision, deafness, coughing and an increase in blood pressure.

Treatment for Alport Syndrome
The treatment for this syndrome is mainly controlling and monitoring the disease and keeping your blood pressure in check. In addition to this as the disease progresses diet restrictions and limited liquid intake is required. In the advanced stage dialysis maybe required and in some cases transplants too. The other symptoms like loss of sight can be rectified through surgery. However, the loss of hearing may be permanent. Genetic therapy is also an option to study the disorder in the long run.