Abstract This paper is presented to acquaint the otolaryngologist with a relatively rare syndrome consisting of congenital familial kidney disease and nerve hearing loss and to report a case that was seen in the Winthrop Foundation of the Massachusetts Eye and Ear Infirmary. In reviewing the literature it is possible to find a relatively abundant amount of material pertaining to hereditary kidney disease, but very little reporting an associated deafness. Hereditary kidney disease in any form is very unusual.1 Guthrie2 in 1902 described a family in which 12 members had hematuria, either gross or microscopic. These members were reevaluated by Kendall and Hertz, Hurst, and Alport,3 who observed that the hematuria was often intermittent. They also added some more members, seven males and eight females. An associated nerve deafness was usually found in the males, and they died of chronic renal disease before the age of 20. Only References 1. Perkoff, G. T.; Stephens, F. E.; Dolowitz, D. A., and Tyler, F. H.: A Clinical Study of Hereditary Interstitial Pyelonephritis , A.M.A. Arch. Int. Med. 88:191-200, 1951.Crossref 2. Guthrie, L. G.: Idiopathic or Congenital Hereditary and Familial Hematuria , Lancet 1:1243-1246, 1902.Crossref 3. Alport, A. C.: Hereditary Familial Congenital Haemorrhagic Nephritis , Brit. M. J. 1:504-506, 1927.Crossref 4. Reyersbach, G. C., and Butler, A. M.: Congenital Hereditary Hematuria , New England J. M. 251:377-380, 1954.Crossref 5. Sturtz, G. S., and Burke, E. C.: Hereditary Hematuria, Nephropathy and Deafness , New England J. M. 254:1123-1126, 1956.Crossref 6. Sohar, E.: Renal Disease, Inner Ear Deafness, and Ocular Changes , A.M. A. Arch. Int. Med. 97:726-630, 1956.Crossref 7. Goldbloom, R. B.; Fraser, F. C.; Waugh, D.; Ceranorutch, M., and Wigglesworth, F. W.: Hereditary Renal Disease Associated with Nerve Deafness & Ocular Lesions , Pediatrics 20:241-252, 1957. 8. Politzer, A.: Text-Book of the Diseases of the Ear for Students and Practitioners , Ed. 4, translated and edited by M. J. Ballin and C. L. Heller, Philadelphia, Lea, 1903, pp. 728-729.
A.M.A. Archives of Otolaryngology – American Medical Association
Published: May 1, 1959