Alport syndrome

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Alport syndrome

Question

What is Alport syndrome? How is it treated?

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Answer

Alport syndrome includes a group of disorders that affect the cell membranes of the kidneys and often the eyes and ears. This rare, inherited disorder damages the internal structures of the kidney (glomeruli) and impairs their function (glomerulonephritis), which may lead to kidney failure.

Alport syndrome primarily affects males because the genetic defect is on the X chromosome. In females with the gene defect, the disorder is mild — causing few, if any, signs or symptoms. Women can transmit the abnormal gene to their children, even if they have no signs or symptoms themselves. Male children have a 50 percent chance of inheriting the defect from a mother who has the abnormal gene. In males, the signs and symptoms are more severe and progress at a faster rate.

Signs and symptoms of Alport syndrome include:

  • Blood in the urine
  • Protein in the urine
  • High blood pressure
  • Kidney failure
  • Hearing loss

A doctor may confirm a diagnosis of Alport syndrome by:

  • Urine tests
  • Blood tests
  • Removal of kidney tissue (biopsy) for examination under a microscope
  • A skin biopsy  

There's no cure for Alport syndrome. Treatment is directed at controlling blood pressure. In severe cases, kidney dialysis or transplantation may be needed.

Last Updated: 03/14/2006
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