Alport Syndrome

Alport syndrome is a rare hereditary disorder that affects the kidneys, as well as hearing and vision. Basically, this disorder causes mutation of a gene for collagen and is typically found on the X chromosome. (Collagen is a protein substance that is widely found in the body in connective tissue, tendons, skin, cartilage, bone and ligaments). This condition mainly affects males and usually results in renal failure, hearing disorder, and vision loss. In women, it is usually mild, with minimal or no symptoms. It is possible for women with this condition to transmit the gene to their children, even if the woman has no symptoms.

The symptoms of this disorder are much more severe in men. It causes chronic glomerulonephritis (inflammation of the kidneys' glomeruli), and there is progressive loss of kidney function and accumulation of fluids and wastes in the body. Within a relatively short period of time (few years), the progressive loss of kidney function leads to end-stage renal disease (ESRD) at an early age. ESRD, caused by Alport syndrome, often develops between adolescence and age 40.

In women, there is usually a normal life span with little or no signs of the disease. In some cases there may be blood in the urine.

Risk Factors and Symptoms

Risk factors include having a family history of Alport syndrome, nephritis, end-stage renal disease, loss of hearing before age 30, glomerulonephritis, and similar disorders.

Symptoms include:

Urine discoloration
Blood in the urine
Loss of hearing
Decrease or loss of vision
Ankle, feet, and leg swelling
Swelling, overall
Swelling around the eyes
High blood pressure

Most of these symptoms are usually more severe in males with this disorder. Some women will have high blood pressure, swelling, and nerve deafness during pregnancy.

Diagnosis

In diagnosing this disorder a doctor will usually check for a family history of the disorder or other kidney diseases. Minute amounts of blood in the urine (microscopic hematuria) may be present from birth of nearly all affected males. Blood pressure may be elevated. Examination of the eyes may show changes in the fundus (posterior inner part of eye) or lens changes.

The doctor usually orders a series of kidney function tests and other tests to confirm diagnosis. Tests may show the following in someone with the disorder:

Urinalysis shows blood, protein, and other abnormalities.
BUN, creatinine are elevated.
Red blood cell count, hematocrit may decrease.
Hematuria test is positive.
Audiometry may show nerve deafness.
Renal biopsy shows chronic glomerulonephritis with the changes typical of Alport syndrome.

Treatment

Since this condition is genetic, it is difficult to treat. Treatment mainly seeks to control and minimize the effects of the symptoms. The most important task is strict control of 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 intervention (such as cataract extraction) may be required to repair eye defects. Hearing loss is difficult to treat and it is likely to be permanent. Counseling and education to increase coping skills may be necessary. 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.

The earlier this condition is detected, the better the chances of monitoring and controlling the symptoms. Seek immediate medical assistance if symptoms suggest Alport syndrome, or if there is a family history of the disorder and you are planning to have children.

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