An update on current and potential genetic insights and diagnosis of Alport syndrome

ABSTRACT Introduction This review presents an approach to early diagnosis and treatment of Alport syndrome, an important genetic cause of kidney failure, with the goal of delaying the need for dialysis and kidney transplantation. This approach is based on an expansive genetic definition of Alport syndrome designed to maximize the identification of affected individuals who may benefit from early intervention. Areas covered The areas discussed include the definition of Alport syndrome, estimating the risk and velocity of progression to kidney failure , the impact of early intervention on kidney outcomes, improving early diagnosis and treatment and hearing loss in Alport syndrome. The recommendations in this review are based on the author's reading and interpretation of approximately 1000 papers published on Alport syndrome since 2000 and archived on PubMed. Expert opinion It is by now clear that the natural history of Alport kidney disease can be substantially modified by angiotensin-converting enzyme (ACE) inhibition, and that optimal kidney outcomes are achieved by the initiation of treatment while kidney function is still normal. In the coming decade enhanced early diagnosis and treatment will continue to increase the age at onset of kidney failure in the Alport population. Novel therapies that can be added on to ACE inhibition will provide further benefit. Safe and effective curative therapies are not out of reach but there are significant hurdles to overcome to make such approaches a reality.