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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.
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 3 genetic types:
- X-linked Alport syndrome (XLAS) -- This is the most common type. The disease is more severe in males than in females.
- Autosomal recessive Alport syndrome (ARAS) -- Males and females have equally severe disease.
- Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females have equally severe disease.
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.
ESRD
End-stage kidney disease is the last stage of chronic kidney disease. This is when your kidneys can no longer support your body's needs. End-stage k...
Dialysis
Artificial kidneys - hemodialysis; Dialysis; Renal replacement therapy - hemodialysis; End-stage renal disease - hemodialysis; Kidney failure - hemod...
Kidney transplant
A kidney transplant is surgery to place a healthy kidney into a person with kidney failure.
Symptoms of kidney problems include:
-
Abnormal urine color
Abnormal urine color
The usual color of urine is straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored.
ImageRead Article Now Book Mark Article - Blood in the urine (which can be worsened by upper respiratory infections or exercise)
- Flank pain
- High blood pressure
- Swelling throughout the body
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:
- Abnormal shape of the lens (anterior lenticonus), which can lead to a slow decline in vision as well as cataracts .
- Corneal erosion in which there is loss of the outer layer of the covering of the eyeball, leading to pain, itching, or redness of the eye, or blurred vision.
-
Abnormal coloring of the
retina
, a condition called dot-and-fleck retinopathy. It doesn't cause vision problems, but can help diagnose Alport syndrome.
Retina
The retina is the light-sensitive layer of tissue at the back of the eyeball. Images that come through the eye's lens are focused on the retina. Th...
ImageRead Article Now Book Mark Article - Macular hole in which there is thinning or a break in the macula. The macula is a part of the retina that makes central vision sharper and more detailed. A macular hole causes blurred or distorted central vision.
Exams and Tests
The health care provider will examine you and ask about your symptoms.
The following tests may be done:
-
BUN
and serum
creatinine
BUN
BUN stands for blood urea nitrogen. Urea nitrogen is what forms when protein breaks down. A test can be done to measure the amount of urea nitrogen ...
Read Article Now Book Mark ArticleCreatinine
The creatinine blood test measures the level of creatinine in the blood. This test is done to see how well your kidneys are working. Creatinine can ...
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Complete blood count
Complete blood count
A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...
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Renal biopsy
Renal biopsy
A kidney biopsy is the removal of a small piece of kidney tissue for examination.
ImageRead Article Now Book Mark Article -
Urinalysis
Urinalysis
Urinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...
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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:
- A diet that limits salt, fluids, and potassium
- Medicines to control high blood pressure
Kidney disease is managed by:
- Taking medicines to slow kidney damage
- A diet that limits salt, fluids, and protein
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
For more information on Alport syndrome, visit the Alport Syndrome Foundation website at alportsyndrome.org.
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:
- You have symptoms of Alport syndrome
- You have a family history of Alport syndrome and you are planning to have children
- Your urine output decreases or stops or you see blood in your urine (this may be a symptom of chronic kidney disease)
Prevention
Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.
References
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.
