Alport syndrome

This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develops during teenage years or as a young adult, usually as proteinuria becomes prominent and renal function begins to be lost. Angiotensin-converting enzyme inhibitors may modify this classic description. Ocular abnormalities are less consistent and tend to occur later, often after end-stage renal failure. Retinal changes do not affect sight. Lenticonus can be treated by lens replacement. Other ocular abnormalities occur rarely. Aortic disease has been reported in occasional families.