Genetic Mutations and Alport Syndrome

Symptoms and Signs of Alport Syndrome

Recognizing the Symptoms and Signs of Alport Syndrome

The symptoms and signs of Alport syndrome usually manifest during childhood. One of the initial indications is the presence of blood or protein in the urine. As the condition progresses, individuals may experience headaches, fatigue, weight loss, and swelling in the legs and feet. Additionally, many individuals with Alport syndrome develop high blood pressure. These secondary symptoms often result from the primary symptoms of kidney damage and failure, hearing loss, and vision defects.


Kidney Failure in Alport Syndrome

Alport syndrome is a condition that disrupts the normal functioning of the kidneys, ultimately leading to kidney failure. The kidneys play a crucial role in waste and water removal, as well as urine production. However, in individuals with Alport syndrome, genetic abnormalities affect the production of type IV collagen, a protein responsible for proper kidney filtration and prevention of scarring. As a result, the kidneys gradually lose their ability to function effectively.

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