Alport Syndrome Symptoms, Causes, Signs, Treatment
What is Alport syndrome?
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).
People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.
Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.
How common is Alport syndrome?
Alport syndrome occurs in approximately 1 in 50,000 newborns.
Alport Syndrome Causes
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen.
The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms.
Risk factors include:
- End-stage kidney disease in male relatives
- Family history of Alport syndrome
- Hearing loss before age 30
Alport Syndrome Symptoms
The disorder damages the tiny blood vessels in the glomeruli of the kidneys. The glomeruli filter blood to make urine and remove waste products from the blood.
At first, there are no symptoms. However, the destruction of the glomeruli over time leads to blood in the urine and may decrease the effectiveness of the kidney’s filtering system. Often kidney function is lost over time and waste products and fluids build up in the body.
In women, the disorder is usually mild, with few or no symptoms. In men, the symptoms are more severe and get worse faster.
Symptoms include:
- Abnormal urine color
- Ankle, feet, and leg swelling
- Blood in the urine (may be made worse by upper respiratory infections or exercise)
- Decreased or loss of vision (more common in males)
- Flank pain
- Loss of hearing (more common in males)
- Swelling around the eyes
- Swelling overall
The condition can progress to end-stage renal disease (ESRD) at an early age (between adolescence and age 40).
Note: There may be no symptoms in some cases. Symptoms of chronic kidney failure or heart failure may be present or may develop.
Alport Syndrome Treatment
The goals of treatment include monitoring and controlling the disease and treating the symptoms. It is most important to strictly control blood pressure. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers can control blood pressure and slow the rate at which the disease gets worse.
You may need to treat chronic kidney disease. This can include changing the diet, limiting fluids, and other treatments. Chronic kidney disease will progress to end-stage kidney disease. This will require dialysis or a kidney transplant.
Surgery to repair cataracts (cataract extraction) or a bulging of the lens in the eye may be needed.
Hearing loss is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments.
Genetic counseling may be recommended because the disorder is inherited.
Prevention
This uncommon disorder is inherited. Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.