What is Alport Syndrome?
Why is Alport Syndrome a cause of ESRD CKD and Dialysis or Hemodialysis?

Alport syndrome is one the inherited disorders that leads to chronic renal failure and often the need for dialysis - hemodialysis.

Alport syndrome primarily affects the kidneys and hearing organs, although the eye may also be affected.
The kidney disease begins in childhood and may progress to complete kidney failure by the teenage years, although the course may be variable. The most common symptom of early kidney disease is hematuria or blood in the urine.

Similarly, hearing loss develops gradually in childhood and is progressive to the point where hearing aides are often necessary.

It has been known for over 80 years that Alport syndrome (named for a British physician who described several generations of a family with this kidney disorder), that Alport leads to kidney failure primarily in boys. The pattern of inheritance is primarily X-linked recessive. X-linked recessive disorders mean that the gene is carried on the X chromosome. Since boys have only one X chromosome, if the boy has the defective Alport gene, then he will go on to develop kidney disease. Since girls have two X chromosomes, they have a much better chance of having one healthy X gene at the Alport location.

With the advent of genetic mapping in the last decade, it is now known that Alport Syndrome is caused the mutations (changes) in the COL4A3 -4 or 5 genes. The COL4 A3-5 genes code for building blocks of amino acids, important in building a type of collagen protein called Type IV collagen. Type IV collagen is found in the basement membrane lining of the kidney, as well as the ears and eye organs. Defective collagen accumulates in these organs in Alport Syndrome leading to scarring and permanent damage.

There is more information about Alport Syndrome on the National Institute of Health website:

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