Health Encyclopedia

Alport syndrome

Definition

Alport syndrome is an inherited disorder that leads to kidney damage.

Alternative Names

Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy

Causes, incidence, and risk factors

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

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

Risk factors include:

End-stage kidney disease in male relatives
Family history of Alport syndrome
Glomerulonephritis
Hearing loss before age 30
Nephritis

Symptoms

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.

Symptoms include:

Abnormal urine color
Ankle, feet, and leg swelling
Blood in the urine
Cough
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 following tests may be done:

Urinalysis shows blood, protein, and other abnormalities
BUN and 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 changes typical of Alport syndrome

Treatment

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.

Complications

Chronic renal failure
Decrease or loss of vision
End-stage renal disease
Permanent deafness

Calling your health care provider

Call for an appointment with your health care provider if your symptoms suggest Alport syndrome, or if you have a family history of Alport syndrome and you are planning to have children.

Call your health care provider if your urine output decreases or stops. This may be a symptom of chronic kidney failure.

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.

References

Behrman RE, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: Saunders; 2003.

Review Date:11/12/2007
Reviewed By:Charles Silberberg, D.O., Private Practice specializing in Nephrology, Affiliated with NY Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network.

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