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Alport Syndrome - A Serious Hereditary Kidney Disorder

Alport syndrome

Alport Syndrome is a rare hereditary kidney disorder that not only affects the kidneys but it can also affect hearing and vision as well.  This condition often affects more males than females.

The symptoms and effects of this disease are also, usually, much more severe in male patients than in female patients.

In extreme cases, it can result in renal failure, hearing disorder, and vision loss.

It causes chronic glomerulonephritis (inflammation of the kidneys' glomeruli), and there is progressive loss of kidney function and accumulation of fluids and wastes in the body.

Within a relatively short period of time (few years), the progressive loss of kidney function leads to end-stage renal disease (ESRD) at an early age.  ESRD, caused by Alport Syndrome, often develops between adolescence and age 40.

Basically, Alport Syndrome causes mutation of a gene for collagen and is typically found on the X chromosome.  Collagen is a protein substance that is widely found in the body in connective tissue, tendons, skin, cartilage, bone and ligaments.

In females, the effects of this disease are usually mild, with minimal or no symptoms.  In some cases there may be blood in the urine (hematuria).  It is possible for women with this condition to transmit the gene to their children, even if the mother has no symptoms. Most women with this condition usually enjoy a normal life span, with little or no signs of the disease.

Risk Factors and Symptoms of Alport Syndrome 

Risk factors include: having a family history of Alport Syndrome, nephritis, end-stage renal disease, loss of hearing before age 30, glomerulonephritis, and similar disorders.

Symptoms include:

  • Urine discoloration;

  • Blood in the urine (hematuria);

  • Loss of hearing;

  • Decrease or loss of vision;

  • Ankle, feet, and leg swelling;

  • Swelling, overall;

  • Swelling around the eyes;

  • High blood pressure.


Most of these symptoms are usually more severe in males with this disorder.  Some women will have high blood pressure, swelling, and nerve deafness during pregnancy.


In diagnosing this condition a doctor will usually check for a family history of the disorder or other kidney diseases.  Minute amounts of blood in the urine (microscopic hematuria) may be present from birth of nearly all affected males.  Blood pressure may also be elevated.  Examination of the eyes may show changes in the fundus (posterior inner part of eye) or lens changes.

The doctor usually orders a series of kidney function tests and other tests to confirm diagnosis.  The following tests and results help to confirm whether a patient has Alport Syndrome.

  • Urinalysis shows blood, protein, and other abnormalities. Urinalysis is a series of tests performed on urine.

  • BUN, creatinine are elevated. A BUN (blood urea nitrogen) test measures the level urea in the blood.

  • Red blood cell count, hematocrit may decrease. Hematocrit test measures the volume of blood that is made up of red blood cells.

  • Hematuria test is positive. Hematuria is the presence of blood in the urine.

  • Audiometry may show nerve deafness. Audiometry test measures a patient's ability to hear sounds.

  • Renal biopsy shows chronic glomerulonephritis with the changes typical of this hereditary disorder. Renal biopsy involves the removal of a small piece of tissue from the kidney for testing. Glomerulonephritis is inflammation of the kidneys' glomeruli.


Since this condition is genetic, it is very difficult to treat.  Treatment mainly seeks to control and minimize the effects of the symptoms.  The most important task is strict control of high blood pressure. Treatment of chronic renal failure will become necessary as the condition progresses.  Treatment may include dietary modifications, fluid restriction and other treatments. Ultimately, chronic renal failure progresses to end-stage renal disease, requiring dialysis and/ or a kidney transplant.

Surgical intervention (such as cataract extraction) may be required to repair eye defects.  Hearing loss is difficult to treat and it is likely to be permanent.  Counseling and education to increase coping skills may be necessary.  Learning new skills such as lip reading or sign language may be of some benefit.  Hearing aids can also be helpful.

Young men, in particular, with Alport Syndrome should use hearing protection in noisy environments.  The earlier this condition is detected, the better the chances of monitoring and controlling the symptoms.  Immediate medical assistance should be sought, if symptoms suggest Alport Syndrome or if there is a family history of the disorder, and you are planning to have children.

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