What Is Alport Syndrome

Alport syndrome is characterized by inflammations of the tiny blood vessels in the kidney called the glomeruli. In addition to glomerulonephritis, Alport Syndrome presents with hearing loss and end stage renal disease. The condition also affects the eyes and is associated with blood in urine.

How Does Alport Syndrome Develop?

The condition is genetic, and is caused due to:

Mutation of alpha-1 and alpha-2 chains on the genes COL4A1 and COL4A2, which is located on chromosome 13.

Mutation of alpha-3 and alpha-4 chains on genes COL4A3 and COL4A4, located on chromosome 2

Mutation of alpha-5 and alpha-6 on genes COL4A5 and COL4A6

Mutations on COL4A5 gene accounts to 85% of the cases of Alport Syndrome, while the remaining cases are caused due to mutation of COL4A3 and COL4A4 genes. Unfortunately even after advances in the domain of molecular genetics, the pathogenesis of patients suffering from Alport syndrome remains poorly understood.

The basic pathogenesis of patient suffering from Alport syndrome is attributed to the fact that mutation of the aforementioned genes results in prevention of production of type IV collagen which is critical structural component of the membranes of the ears, eyes and kidneys. The mutation results in failure of the basement membrane to filter nitrogenous waste material from the body fluids and blood, normally and allows blood and proteins to transcend the barriers of the membrane and thereby get excreted in urine. This in turn results in scarring of the basement membranes of the kidney which eventually leads to kidney failure.

Alport syndrome presents with different patterns of inheritance. The condition is liked to X chromosome in an autosomal recessive or an autosomal dominant pattern.

Symptoms of Alport Syndrome

Patients suffer from chronic renal failure, decrease or complete loss of vision, end stage renal disease and permanent deafness.

The condition tends to affect males more than females since it is linked to the X chromosome. Men can present with the complications of the Alport Syndrome by the age of 50 years; while females may present with no symptoms of the condition except for hematuria (blood in urine) and complete a normal life span.

Managing Alport Syndrome

Specialized medical attention may be required in cases of reduced urine output or in case of presence of blood in urine. Individuals having a family history of the condition must visit the doctor regularly, as early diagnosis and treatment is the most efficient aspect of effectively managing the condition.

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