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Alport syndrome

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Alport Syndrome



Mutations in collagen synthesis


Inflammation of small blood vessels in kidney, protein in urine, deafness

Mortality Rate

Moderate. Most males do not live past age 50 even with treatment.


ACE inhibitors

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Dead & Buried


Alport syndrome is a rare genetic condition that results in inflammation and eventual failure of the kidneys. It was first identified by Dr. Cecil A. Alport in 1927, who also determined that it had a genetic cause. Most symptomatic patients are males although females can be carriers of the gene. It's distinguishing characteristic from other inflammatory kidney diseases is the presence of deafness which is the result of the same root cause that causes the kidney disorder.

One of a number of genes can cause the disorder, but in all cases the body cannot form a type of collagen that is vital to the delicate underlying structures of both the kidneys and the eardrum. In the kidneys, this results in the kidneys not being able to properly filter protein and blood and instead release these into the urine. This causes scarring of the kidneys, leading to their eventual failure.

Alport is very difficult to diagnose as there is no one symptom that clearly indicates it apart from the presence of a faulty gene. As such, it is usually diagnosed using a family medical history combined with a number of other symptoms caused by the disease.

Alport cannot be cured and treatment is based on dealing with symptoms. ACE inhibitors are often used to prevent protein in the urine, and patients are educated on how to look for the signs of kidney failure. Dialysis and kidney transplant can also be effective.

Alport syndrom at NIH

Alport syndrome at Wikipedia

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