Rare Inherited Kidney Diseases: Alport Syndrome

Course overview

Alport syndrome (AS) is described as a rare genetic disorder characterized by progressive kidney disease and abnormalities of the ears and eyes. Three genetic types of AS have been identified: X-linked (XLAS), autosomal recessive (ARAS) and autosomal dominant (ADAS). X-linked Alport syndrome is the most common, typically affecting males more than females. Three genetic forms of AS have been reported to date, which include the XLAS, ARAS, and ADAS. The treatment is symptomatic and is aimed at slowing the progression of renal disease and renal failure. Kidney transplantation is required in many patients as the disease advances. Researchers have determined that the progression and severity of AS tends to vary based upon the specific mutation present in a gene as well as the specific location of the mutation on the gene. This is known as genotype-phenotype correlation and allows clinicians to predict individuals who are at risk of early-onset renal failure or are more likely to develop extra-renal abnormalities.