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.
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:
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:
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.
These resources provide more information on Alport syndrome:
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.
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.
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.BACK TO TOP
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.
The information provided herein 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. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2019 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.