Hereditary Nephropathy and Loss of Hearing

Abstract

THE ASSOCIATION of progressive loss of hearing and renal disease as an inherited disease syndrome was first recognized by Alport¹ in 1927. This attracted little attention until Perkoff and co-workers¹⁴ in 1951 described a high incidence of renal disease and perceptive loss of hearing in four generations of a large Mormon family. Since then Sohar¹⁸ has confirmed the hereditary nature of the lesions of the ear and kidney, the increased severity of the renal disorder in affected male patients, and the occasional occurrence of ocular defects. This report describes another kindred with this rare form of renal disease, reports some detailed audiometric findings, and briefly reviews the concepts regarding pathogenesis. Report of Cases Case 1.—A 17-year-old boy of German ancestry was first seen at this hospital (Geisinger Medical Center) because of frequent severe epistaxis and anemia. He had had partial deafness since the age of 2