Alport syndrome

Definition

Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys.

Causes

Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen.

The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms.

Risk factors include:

Symptoms

The disorder damages the tiny blood vessels in the glomeruli of the kidneys. The glomeruli filter blood to make urine and remove waste products from the blood.

At first, there are no symptoms. However, the destruction of the glomeruli over time leads to blood in the urine and may decrease the effectiveness of the kidney's filtering system. Often kidney function is lost over time and waste products and fluids build up in the body.

In women, the disorder is usually mild, with few or no symptoms. In men, the symptoms are more severe and get worse faster.

Symptoms include:

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.

Exams and Tests

Signs include:

The following tests may be done:

Treatment

The goals of treatment include monitoring and controlling the disease and treating the symptoms. It is most important to strictly control blood pressure. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers can control blood pressure and slow the rate at which the disease gets worse.

You may need to treat chronic kidney disease. This can include changing the diet, limiting fluids, and other treatments. Chronic kidney disease will progress to end-stage kidney disease. This will require dialysis or a kidney transplant.

Surgery to repair cataracts (cataract extraction) or a bulging of the lens in the eye may be needed.

Hearing loss 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 and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments.

Genetic counseling may be recommended because the disorder is inherited.

Outlook (Prognosis)

Women usually have a normal lifespan 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, vision problems, and end-stage kidney disease are likely by age 50.

When to Contact a Medical Professional

Call for an appointment with your health care provider if:

Prevention

This uncommon disorder is inherited. Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.


Review Date: 9/8/2013
Reviewed By: Charles Silberberg, DO, Private Practice specializing in Nephrology, Affiliated with New York Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

This information should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. © 1997- 2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.