Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni Klinični center Ljubljana, Ljubljana, Slovenija
Alport Syndrome is an inherited disease of the kidney that can also affect the inner ear (cochlea) and eye. It is caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is a major component of important tissue structures called basement membranes, which are present in all tissues, including the kidney, inner ear and eye. There are three genetic types of Alport Syndrome. X-linked Alport Syndrome is the most common. In these families, affected males typically have more severe disease than affected females. In autosomal recessive Alport Syndrome, the severity of disease is similar in affected males and females. The autosomal dominant form of Alport Syndrome is rare.
Key words: haematuria, Alport Syndrome, mutation, collagen, renal disease.