Symptoms of Alport syndrome
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By :
peter hutch
Submitted
2008-05-23 00:00:00 |
Progressive loss of kidney function in Alport Syndrome is variable. 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.
Sensorineural deafness is a characteristic feature observed frequently, but not universally, in patients with AS. Some families with AS have severe nephropathy but normal hearing. Hearing loss is never present at birth. Usually, hearing loss becomes apparent by late childhood or early adolescence, generally before the onset of renal failure. Hearing impairment is always associated with renal involvement.
Congenital deafness similarly may or may not be genetic. For example, it may be associated with a white forelock and be caused by a genetic disease called Waardenburg syndrome. In fact, more than half of congenital hearing loss is inherited. Alternatively, congenital deafness may be due to something such as the rubella virus to which the mother was exposed during pregnancy.
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. In this case, either dialysis - a mechanical process for filtering waste out of blood -- or transplantation is required to sustain life.
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; and low blood platelet counts that can compromise blood clotting. 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. While women can live with Alport’s syndrome and have no noticeable symptoms other than a slight hearing loss or occasional blood in the urine, men are more likely to die from complications of this disease by middle age.
The normal anatomy of the kidneys involves two bean shaped organs that produce urine. Urine is then carried to the bladder by way of the ureters. The bladder serves as a storehouse for the urine. When the body senses that the bladder is full, the urine is excreted from the bladder through the urethra.
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