Diagnosis and Condition Management
Affected Populations
Alport syndrome affects people of all races and ethnic backgrounds, and both males and females. It is considered a rare disease, estimated to affect 30,000 to 60,000 people in the United States, or about 1 in every 50,000 newborns. Because milder forms often go unrecognized or are misdiagnosed, the true number of people affected is likely higher.
Diagnosis
Alport syndrome is diagnosed using a combination of tests, often prompted by blood in the urine, a family history of kidney disease, or hearing loss:
• Urine tests to check for blood and protein in the urine
• Blood tests to measure kidney function, including creatinine and estimated glomerular filtration rate (eGFR)
• Genetic testing to confirm the diagnosis and identify the mode of inheritance. Genetic testing is now the preferred first step: it can often spare patients a kidney biopsy and makes testing of at-risk family members possible.
• Hearing and eye exams to look for the hearing loss and eye changes associated with Alport syndrome
• Kidney biopsy in some cases, to examine kidney tissue under an electron microscope for the characteristic changes in the glomerular basement membrane
A family history of blood in the urine, kidney failure, or hearing loss, especially across several generations, is an important clue and should prompt evaluation of relatives as well.
Therapies, Treatment, and Management
There are currently no therapies approved specifically for Alport syndrome. Treatment focuses on protecting kidney function, managing symptoms, and preventing complications, while several promising therapies are being studied in clinical trials, including at UCLA Health.
Protecting the kidneys
Starting treatment early, before significant kidney damage occurs, is the most important step. Care may include:
• ACE inhibitors or angiotensin II receptor blockers (ARBs): the foundation of treatment. These medications lower protein in the urine, control blood pressure, and slow the progression of kidney disease. Expert guidelines recommend starting them early, in many cases in childhood.
• Additional kidney-protective medications, such as SGLT2 inhibitors, which may be considered for some patients with chronic kidney disease
• Blood pressure control, with diuretics or other medications added as needed; diuretics can also help reduce swelling
• A lower-sodium diet and other heart- and kidney-healthy lifestyle measures
• Avoiding medications that can harm the kidneys, such as regular use of NSAIDs like ibuprofen
Hearing and vision care
Regular hearing tests and eye exams help catch changes early. Hearing aids can be very effective, and eye specialists can treat complications such as cataracts or lens problems.
Kidney failure
If kidney failure develops, treatment options include dialysis (including home dialysis) and kidney transplantation. People with Alport syndrome generally do very well after transplant. Because Alport syndrome is genetic, family members who wish to become living kidney donors need careful evaluation, including genetic testing, to protect their own long-term kidney health.