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- Alport's syndrome is a common cause of hematuria (blood in the urine). It is responsible for about 15% of childhood cases of hematuria.
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- 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
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- 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.
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- Initial diagnosis can be made on the history and physical findings, but confirmation requires a biopsy of the kidney.
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- 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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