Alport Syndrome is a congenital genetic mutation in type IV collagen; one place of major significance is the glomerular basement membrane of nephrons in addition to the lens of the eye, skin, alveolar lining and the cochlea of the inner ear. Around 85% of cases are inherited via a sex linked recessive pattern, whereby females are less likely to have the disease in comparison with males; there are mutations in medical literature that result in Alport Syndrome with an autosomal recessive pattern and rarely an autosomal dominant pattern. Around 1 in 50,000 children are affected by the disease. Characteristics of this disease include glomerulonephritis, end stage renal disease (ESRD), difficulty in vision and hearing loss.
Patients commonly experience proteinuria and hematuria due to the leaky basement membrane in the glomerulus, whereby the filtration process of the blood by the kidneys does not tightly filter out protein and cells. These patients also must be watched to maintain adequate hemoconcentration, protein and albumin levels, and subsequently their intravascular volume.