There is no treatment that has been proven to prevent the development of kidney failure in people with Alport Syndrome. It is very important for people with Alport Syndrome to be examined regularly by a Nephrologist, so that effects of kidney disease, such as hypertension (high blood pressure), can be identified early and treated. Regular hearing and vision evaluation is also important. The following discussion on Medication and Monitoring is for patients prior to kidney failure or End State Renal Disease (ESRD).
The Alport Syndrome Research Collaborative (http://www.med.umn.edu/peds/astor/registryinfo/CollaboratingInstitutions/index.htm) has presented clinical practice recommendations for the treatment of people with Alport syndrome in the Journal of Pediatric Nephrology. The guidelines can be accessed at the following link:
http://www.springerlink.com/content/j3337878423r7t25/fulltext.pdf. The guidelines are aimed at standardizing therapy for people with AS.
Many Nephrologists will consider using a type of blood pressure medication that interferes with the production or action of angiotensin II, because these medications have been shown to slow the progression of other types of kidney disease and have a low occurrence of major side effects. Data from animal studies suggest the benefits from angiotensin-converting enzyme (ACE) inhibitors in reducing proteinuria (protein in the urine) and progression of renal disease. Angiotensin receptor blockers (ARBs) have also been used in patients with proteinuria as ARBs were shown to delay progression to kidney failure in animal studies. ACE inhibitors and/or ARBs should be given to patients with Alport Syndrome who have proteinuria with or without high blood pressure.
ACE inhibitors that have been used to treat Alport Syndrome patients include, but are not limited to:
ACE inhibitors are relatively well tolerated by most individuals. Nevertheless, they are not free of side effects, and some patients should not use ACE inhibitors. ACE inhibitors usually are not prescribed for pregnant patients because they may cause birth defects. The most common side effects are cough, elevated blood potassium levels, low blood pressure, dizziness, headache, drowsiness, weakness, abnormal taste (metallic or salty taste), and rash. It may take up to a month for coughing to subside, and if one ACE inhibitor causes cough it is likely that the others will too. The most serious, but rare, side effects of ACE inhibitors are kidney failure, allergic reactions, a decrease in white blood cells, and swelling of tissues (angioedema). ARBs that have been used to treat Alport Syndrome patients include, but are not limited to:
Compared to ACE inhibitors, cough occurs less often with ARBs. The most serious, but rare, side effects are kidney failure, liver failure, allergic reactions, a decrease in white blood cells, and swelling of tissues (angioedema). ARBs usually are not prescribed for pregnant patients because they may cause birth defects.
In addition to taking ACE inhibitors and/or ARBs to control proteinuria, Alport Syndrome patients need to control their blood pressure and be monitored regularly. Monitoring tests include, but are not limited to, 24-hour urinary protein, creatinine, and serum chemistry. As a general recommendation, Alport Syndrome patients without any kidney function problems should be monitored annually, those patients with moderate kidney function problems should be monitored every 6 months, and those with advanced kidney failure should be monitored every 1 to 3 months.
Patients with Alport Syndrome should also avoid drugs that are nephro-toxic or harmful to the kidneys. This includes over the counter medicines such as non-steroidal anti-inflammatory drugs (NSAIDs) containing aspirin, ibuprofen and naproxen, as well as some decongestants. Patients should speak with their Nephrologist to get guidance on medicines that should be avoided.
Hearing and vision should also be monitored every one to two years beginning in children at 6 to 7 years of age and continued regularly. Hearing aids should be prescribed as needed.
End State Renal Disease (ESRD)
The options for a patient with ESRD are dialysis or a kidney transplant. Kidney transplantation has a very high success rate in people with Alport Syndrome. Because Alport Syndrome is a familial condition, related kidney donors must be carefully evaluated for this disease. Under most circumstances, a carrier of a mutation in one of the type IV collagen chain genes should not be a kidney donor. Information on dialysis and transplantation can be found at the National Kidney Foundation and the American Association of Kidney Patients or look under the Other Resources section of this website.