Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys. It also causes hearing loss and eye problems.
Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy
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 3 genetic types:
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:
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.
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.
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.
For more information on Alport syndrome, visit the Alport Syndrome Foundation website -- alportsyndrome.org.
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:
Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.
Gregory MC. Alport syndrome and related disorders. In: Gilbert SJ, Weiner DE, eds. National Kidney Foundation Primer on Kidney Diseases. 6th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 43.
Kashton 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.
Review Date: 9/22/2015
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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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