Treatment of Alport Syndrome
A Brighter Outlook
For many years nephrologists had no way to prevent or even delay kidney failure in people with Alport syndrome. However, in 2004 German researchers showed that a type of medication called an angiotensin converting enzyme inhibitor (ACE inhibitor) could slow down the loss of kidney function in mice with Alport syndrome. In 2012, studies from the European Alport Registry showed that starting an ACE inhibitor while kidney function is still normal can delay kidney failure in people with Alport syndrome. In 2013, we published guidelines for the treatment of Alport syndrome in children According to these guidelines, treatment with an ACE inhibitor should be started when children with Alport syndrome start to show elevated protein levels in the urine.
This means that Alport syndrome should be diagnosed early in childhood, if possible, and that urine protein levels should be carefully monitored in children with Alport syndrome. ACE inhibitors have a low rate of major side effects, and can be used safely in children with chronic kidney disease.
Regular hearing evaluation is important after about eight years of age, especially in boys. Hearing aids usually work well for people with Alport syndrome.
Kidney transplantation has a very high success rate in people with Alport syndrome and is the best treatment when end-stage kidney failure is approaching. Because Alport syndrome is a familial condition, related kidney donors must be carefully evaluated for the disease. Under most circumstances, a carrier of a mutation in one of the type IV collagen chain genes should not be a kidney donor.
Research into new treatments for Alport syndrome is continuing. Although a cure for Alport syndrome is not yet in sight, we are very optimistic that new treatments, added to ACE inhibitor treatment, will provide additional protection of the kidneys of people with this disease.