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 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 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.
Kandai Nozu is in Kobe, Japan. Nozu is rated as an Elite expert by MediFind in the treatment of Alport Syndrome. They are also highly rated in 62 other conditions, according to our data. Their top areas of expertise are Alport Syndrome, Nephrotic Syndrome, Congenital Nephrotic Syndrome, and Magnesium Deficiency.
Clifford Kashtan is a Pediatrics specialist and a Pediatric Nephrologist in Minneapolis, Minnesota. Dr. Kashtan has been practicing medicine for over 44 years and is rated as an Elite doctor by MediFind in the treatment of Alport Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Alport Syndrome and Glomerulonephritis. He is licensed to treat patients in Minnesota. Dr. Kashtan is currently accepting new patients.
Tomohiko Yamamura is in Kobe, Japan. Yamamura is rated as an Elite expert by MediFind in the treatment of Alport Syndrome. They are also highly rated in 19 other conditions, according to our data. Their top areas of expertise are Alport Syndrome, Nephrotic Syndrome, Congenital Nephrotic Syndrome, and Lowe Syndrome.
More information and support for people with Alport syndrome and their families can be found at:
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.
Contact your provider for an appointment if:
Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.
Published Date : July 27, 2021
Published 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.
Gregory MC. Alport syndrome and related disorders. In: Gilbert SJ, Weiner DE, eds. National Kidney Foundation's Primer on Kidney Diseases. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 42.
Radhakrishnan J, Appel GB, D'Agati VD. Secondary glomerular disease. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 32.
Rheault MN, Kashtan CE. Alport syndrome and other familial glomerular syndromes. In: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Comprehensive Clinical Nephrology. 6th ed. Philadelphia, PA: Elsevier; 2019:chap 46.