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Alport syndrome

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

Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys. It also causes hearing loss and eye problems.

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Male urinary system

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Causes

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

The disorder is rare. There are three genetic types:

Symptoms

KIDNEYS

With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged. The glomeruli filter blood to make urine and remove waste products from the blood.

At first, there are no symptoms. Over time, as the glomeruli are more and more damaged, kidney function is lost and waste products and fluids build up in the body. The condition can progress to end-stage renal disease (ESRD) at an early age, between adolescence and age 40. At this point, dialysis or a kidney transplant is needed.

Symptoms of kidney problems include:

EARS

Over time, Alport syndrome also leads to hearing loss. By the early teens, it is common in males with XLAS, though in females, hearing loss is not as common and happens when they're adults. With ARAS, boys and girls have hearing loss during childhood. With ADAS, it occurs later in life.

Hearing loss usually occurs before kidney failure.

EYES

Alport syndrome also leads to eye problems, including:

Exams and Tests

The health care provider will examine you and ask about your symptoms.

The following tests may be done:

If your provider suspects you have Alport syndrome, you will also likely have vision and hearing tests.

Treatment

The goals of treatment include monitoring and controlling the disease and treating the symptoms.

Your provider may recommend any of the following:

Kidney disease is managed by:

Hearing loss can be managed with hearing aids. Eye problems are treated as needed. For example, an abnormal lens due to lenticonus or cataracts can be replaced.

Genetic counseling may be recommended because the disorder is inherited.

Support Groups

These resources provide more information on Alport syndrome:

Outlook (Prognosis)

Women usually have a normal lifespan with no signs of the disease except for blood in the urine. In rare cases, women 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.

 As the kidneys fail, dialysis or a transplant will be needed.

When to Contact a Medical Professional

Call for an appointment with your provider if:

Prevention

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

Related Information

Urine - bloody
Sensorineural deafness
Renal
End-stage kidney disease
Hearing loss
Glomerulonephritis

References

Appel GB, Radhakrishnan J, D'Agati V. Secondary glomerular disease. In: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner and Rector's The Kidney. 10th ed. Philadelphia, PA: Elsevier; 2016:chap 33.

Gregory MC. Alport syndrome and related disorders. In: Gilbert SJ, Weiner DE, eds. National Kidney Foundation Primer on Kidney Diseases. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 42.

Kashtan CE. Alport and other familial glomerular syndromes. In: Johnson RJ, Feehally J, Floege J, eds. Comprehensive Clinical Nephrology. 5th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 48.

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Review Date: 8/1/2017  

Reviewed By: Walead Latif, MD, nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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