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Welcome, medical contents search April 30, 2013
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Alport's Syndrome

more about Alport's Syndrome

  • Alport's syndrome is a common cause of hematuria (blood in the urine).  It is responsible for about 15% of childhood cases of hematuria.

  • 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

  • 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.

  • Initial diagnosis can be made on the history and physical findings, but confirmation requires a biopsy of the kidney.

  • 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.

more about Alport's Syndrome

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