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The Alport Syndrome Clinic

The Alport Syndrome Clinic

Alport Syndrome is the second most common cause of inherited kidney disease after polycystic kidney disease. It is a constellation of clinical features of kidney disease, hearing deficit and eye abnormalities. It presents initially as hematuria with gradual decline in kidney function over years. Symptoms tend to be more severe in males than in females in the most common form which is X-Linked. Most males will progress to end-stage renal disease requiring chronic dialysis or kidney transplant before they reach the age of 40 years. Early recognition and timely referral to nephrology are important because progress in the treatment of Alport syndrome has led to significant delay in the age of reaching kidney failure. Awareness of this disease by healthcare providers and the general public is the first step in making the appropriate diagnosis. Diagnosis is usually made by molecular genetic analysis or kidney biopsy that displays characteristic features.

The Alport Syndrome kidney clinic at University of Utah Health has a history of more than thirty years of providing care for 160 families with Alport syndrome from Utah and the neighboring states. We work with other departments to provide excellent, comprehensive clinical care and perform research on Alport Syndrome. These endeavors exemplify the mission and collaborative nature of University of Utah Health. Providers from Nephrology, Ophthalmology, ENT and Human Genetics work together to manage those patients. Moreover, we continue to be one of the main sites for offering the opportunity to participate in different diagnostic and therapeutic research studies. The involvement and dedication of our patients and staff have been crucial for the advancement of the field of Alport syndrome.

Patients either self-refer to our clinic as they are aware of their family history or are referred by their primary care physicians for unexplained blood or protein in the urine or decline in their kidney function. Diagnosing Alport syndrome is also important to avoid unnecessary invasive procedures, such as repeat cystoscopy to work up hematuria. The correct diagnosis of Alport Syndrome also allows for proper family counseling. More information can be obtained online from the Alport Syndrome Foundation at

For local referral, please contact Dr. Martin Gregory, Dr. Josephine Abraham, or Dr. Laith Al-Rabadi at our Kidney & Liver Clinic at 50 N. Medical Drive #A100, Salt Lake City, UT 84132 (801-585-6320).