Alport's syndrome

Alport's syndrome (AS) is a rare condition characterized by hereditary nephritis with haematuria, progressive renal failure and high-frequency nerve deafness. It is principally expressed in males and both X-linked (mutation in COLIVα5 gene) and dominant modes of inheritance have been described. Some 15% of cases may have ocular abnormalities such as bilateral anterior lenticonus and macular and perimacular retinal flecks.

In families with leiomyomas there is an additional mutation in the COLIVα6 gene. The disease is progressive and accounts for some 5% of cases of end-stage renal failure in childhood or adolescence. Anti-GBM antibody does not adhere normally to the glomerular basement membrane of affected individuals.

There are several hereditary forms of nephritis (inflammation of the kidneys). Alport's syndrome is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure.

The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40.

Bookmark This Page:   :: :: ::

Health Tip

Brushing your teeth immediately after dinner can help resist the evening-snack urge. The minty toothpaste flavour signals that eating is over for the day.