What Happens In Alport Syndrome ?
In each of the one million tiny filtering units (glomeruli) in each kidney, blood is filtered across the glomerular basement membrane (GBM). In Alport syndrome, type IV collagen, one of the proteins that makes up the GBM, is absent or abnormal.
What Trouble Does Alport Syndrome Cause ?
Kidneys: 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. Before 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.
Deafness: 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.
The disorder damages the tiny blood vessels in the kidneys, called glomeruli, that filter wastes.
At first, there are no symptoms. Then the progressive destruction of the glomeruli leads to blood in the urine and decreases the effectiveness of the kidney's filtering system. There is a progressive loss of kidney function and a build-up of fluids and wastes in the body.
In women, the disorder is usually mild, with minimal or no symptoms. In men, the symptoms are more severe and get worse faster.
- Abnormal urine color
- Ankle, feet, and leg swelling
- Blood in the urine
- Decrease or loss of vision, more common in males
- Loss of hearing, more common in males
- Swelling around the eyes
- Swelling, overall
The condition can progress to end-stage renal disease (ESRD) at an early age (between adolescence and age 40).
Note: There may be no symptoms in some cases. Symptoms of chronic kidney failure or heart failure may be present or may develop.
Signs And Tests:
- Changes to the eye, including the fundus (posterior inner part of eye), lens, cataracts, or lens protrusion (lenticonus)
- Elevated blood pressure
- Tiny amounts of blood in the urine (microscopic hematuria)
The goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Most important is to strictly control high blood pressure. Treatment of chronic renal failure will become necessary. This may include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic renal failure progresses to end-stage renal disease, requiring dialysis or transplantation.
Surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye is possible.
Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments.
Genetic counseling may be recommended because of the inherited pattern of the disorder.
Expectations ( Prognosis ):
Women usually have a normal life span with no signs of the disease except for blood in the urine. Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy.
In men, deafness, visual difficulties, and kidney failure are likely by age 50.
- Chronic renal failure
- Decrease or loss of vision
- End-stage renal disease
- Permanent deafness
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