Monday, May 26, 2008

How To Find Alport Syndrome

Alport Syndrome is variable in one person to other like in some families affected males may require dialysis as early as 20 years and invariably by 31 years of age; in others, dialysis is not needed until about 40 years. Deafness is bilateral, but may be subtle in childhood. Formal audiometric studies detect some level of hearing abnormality in about 85% of affected boys by age 15 and many require hearing aids by the age of 25. About 25-30% of patients have a characteristic abnormality of the shape of the lens, as well as changes in the retina at the back of the eye. Although useful in diagnosis, these problems are not usually associated with severe loss of vision. Here are some more symptoms of Alport Syndrome:
  • Blood cells in the urine visible only under the microscope, are usually first noticed on routine checks during a routine physical examination. 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.
  • When the kidneys stop working, renal failure occurs. If this renal failure continues, end stage renal disease results from the accumulation of toxic waste products in the body.
  • Deafness at first to high tones, develops at round about the same age as kidney failure in most patients, although some people don't get this.
  • Eyes Harmless changes can quite often be seen at the back of the eye using special tests.
  • Some patients have lenticonus, an unusual deformity of the lens of the eye.
  • Symptoms may include hearing loss, particularly sounds at high frequencies; vision problems, such as cataracts, involuntary eye movements, and abnormalities of the cornea; nerve problems, such as polyneuropathy; skin problems.
  • Although it is unusual, some patients develop nephrotic syndrome, which can cause high protein levels in the urine, low levels of a protein called albumin in the blood, and swelling, usually in the legs and/or abdomen.

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