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an autosomal dominant disorder marked by progressive nerve deafness, progressive pyelonephritis or glomerulonephritis, and occasionally ocular defects.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
Alport's syndromeA rare inherited form of the kidney disease GLOMERULONEPHRITIS often associated with perceptive deafness and sometimes CATARACT. The syndrome is caused by defects in the Type IV collagen of basement membranes due to gene mutations. It usually begins in childhood or early adult life with blood in the urine. There may also be short sight (MYOPIA), RETINITIS PIGMENTOSA and THROMBOCYTOPENIA. (Arthur Cecil Alport, South African physician, 1880–1959).
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005