Alport syndrome

Alternative Names

Hereditary nephritis; Hematuria – nephropathy – deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy

Definition of Alport syndrome

Alport syndrome is an inherited disorder that damages tiny blood vessels in the kidneys.

Causes, incidence, and risk factors

Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in connective tissue, called collagen.

Symptoms

The disorder damages the tiny blood vessels in the kidneys, called glomeruli, that filter wastes.

Treatment

The goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Most important is to strictly control blood pressure.

Expectations (prognosis)

Women usually have a normal life span with no signs of the disease except for blood in the urine. Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy.

Review

David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Herbert Y. Lin, MD, PHD, Nephrologist, Massachusetts General Hospital; Associate Professor of Medicine, Harvard Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/30/2009

Male urinary system

ADAM Medical Encyclopedia

Article written by

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability.