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Alports Syndrome - Symptoms and Treatment


Alport syndrome is an inherited disorder involving damage to the kidney, blood in the urine , and in some families, loss of hearing. The disorder may also include eye defects. 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. Important examples are diabetes, dermatological conditions and myotonic dystrophy. Alport's Syndrome is dislocation of the lens is a well-known component of such conditions as Marfan's syndrome and homocystinuria. Spherophakia can form part of the Weill-Marchesani syndrome and lenticonus, when anterior and bilateral, is almost always indicative of Alport's syndrome. Alport's syndrome is a hereditary disorder characterised by progressive nerve deafness, pyelonephritis or glomerulonephritis and occasionally ocular defects. The main characteristics of this very rare hereditary syndrome are progressive renal failure, nerve deafness and abnormities of the lense of the eye. A significant decrease in or disappearance of proteinuria and apparently good tolerance to csa were observed in all patients.

Alport's syndrome is a kidney disease. It is a hereditary disorder. Alport's syndrome causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. Alport's Syndrome a significant decrease in or disappearance of proteinuria and apparently good tolerance to CsA were observed in all patients. Alport's Syndrome is thought to be due to an autosomal inherited defect of the glomerular basement membrane of the kidneys.

Causes of Alports Syndrome

The common Causes of Alports Syndrome :

  • The kidney function deteriorates, there may be blood and protein in the urine, and high blood pressure may develop. Women may never get much more than these changes, but some of them go on to get kidney failure over decades.
  • The most common form (85%) that results from mutations in the encoding of the alpha-5 (IV) chain of type IV collagen
  • Most people with Alport syndrome develop kidney failure in early adult life - in their late teens or twenties. Some (particularly women) only get the disease in later life.
  • Caused by mutations in genes encoding either alpha-3 (IV) or alpha-4 (IV) chains and is responsible for approximately 10-15% of cases
  • Alport's syndrome is much more common in males than in females.

Symptoms of Alports Syndrome

Some sign and Symptoms related to Alports Syndrome :

  • Cough.
  • Abnormal urine color.
  • Swelling around the eyes.
  • Blood in the urine.
  • Loss of hearing, more common in males.
  • Ankle, feet, and leg swelling.

Treatment of Alports Syndrome

  • High blood pressure is controlled with various medications.
  • A low-protein diet is usually recommended to help slow damage to the kidneys.
  • 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.
  • In the future, gene therapy may allow doctors to replace the defective gene and reverse some aspects of the disease.
  • Unfortunately, there is no therapy available to prevent or slow the development of blindness and deafness.

 

 


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