Summary

• Rare familial nephropathy due to abnormalities in type IV collagen.
• May be inherited in 1 of 3 patterns: X-linked, autosomal recessive, or autosomal dominant.
• Associated with considerable clinical variability of age of onset of chronic renal failure. Frequently associated with sensorineural hearing loss.
• Female carriers of X-linked mutations have a significant lifetime risk of developing HTN and renal disease.
• Strong genotype-phenotype correlations in X-linked Alport's syndrome have been described in male patients.
• Monitoring and treatment of renal disease is the main treatment.