Alport Syndrome
Alport Syndrome is a genetic disorder that primarily affects the kidneys, ears, and eyes. This condition is characterized by progressive kidney disease, hearing loss, and eye abnormalities. It results from mutations in the genes responsible for producing type IV collagen, a crucial protein in the structure of the kidneys' filtering units, inner ear, and parts of the eye. Understanding Alport Syndrome is important for patients, their families, and caregivers, as early diagnosis and appropriate management can significantly improve the quality of life. Types of Alport Syndrome There are three main types of Alport Syndrome based on the inheritance pattern: X-linked Alport Syndrome, autosomal recessive Alport Syndrome, and autosomal dominant Alport Syndrome. X-linked Alport Syndrome is the most common type and is caused by mutations in the COL4A5 gene. Autosomal recessive Alport Syndrome results from mutations in both copies of the COL4A3 or COL4A4 genes. Autosomal dominant Alport Syndr