Alport Syndrome, also known as Hereditary Nephritis, is a rare genetic disorder that primarily affects the kidneys and can lead to hearing loss and eye abnormalities. It is named after the British physician, Dr. Cecil Alport, who first described the condition in 1927.
Synonyms for Alport Syndrome:
Alport Syndrome is caused by mutations in genes that are responsible for producing collagen, an essential protein in the body. These mutations affect the structure and function of the kidneys' filtration system, leading to progressive kidney damage over time. The condition is typically inherited in an X-linked pattern, meaning it primarily affects males, although there are also autosomal recessive and autosomal dominant forms.
The main symptoms of Alport Syndrome include:
Diagnosis of Alport Syndrome involves a combination of clinical evaluation, family history assessment, kidney function tests, urine analysis, and genetic testing. Early detection and intervention are crucial to managing the condition and preventing complications.
Treatment options for Alport Syndrome:
While there is currently no cure for Alport Syndrome, ongoing research aims to develop targeted therapies and gene-based treatments to improve outcomes for individuals with this condition.