DESCRIPTION
* Alport's syndrome is a common cause of hematuria (blood in the urine). It is responsible for about 15% of childhood cases of hematuria.
SYMPTOMS
* Microscopic hematuria: Blood cells in the urine visible only under the microscope, are usually first noticed on routine checks during a routine physical examination.
* Gross hematuria: Red blood cells in the urine are visible with the naked eye when the child has a viral illness, such as a cold or sore throat.
* Slow development of deafness
* Decreases in vision
* High blood pressure
* Swelling of the eyes, especially in the mornings
CAUSE
* Alport's syndrome is caused by a genetic mutation that affects the formation of collagen. Collagen is one of the proteins that helps "hold us together" and is in connective tissue.
* Alport's syndrome is much more common in males than in females.
HOW THE DIAGNOSIS IS MADE
* Initial diagnosis can be made on the history and physical findings, but confirmation requires a biopsy of the kidney.
TREATMENT
* Treatment of Alport's syndrome is supportive, aimed mainly at slowing the progression of the symptoms. The only "cure" is a renal transplant, which is usually undertaken only when a patient's own kidneys have stopped working.
* A low-protein diet is usually recommended to help slow damage to the kidneys.
* High blood pressure is controlled with various medications.
* Unfortunately, there is no therapy available to prevent or slow the development of blindness and deafness.
* In the future, gene therapy may allow doctors to replace the defective gene and reverse some aspects of the disease.
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