HEREDITARY RENAL DISEASE ASSOCIATED WITH NERVE DEAFNESS AND OCULAR LESIONS

Abstract

A family with an unusual hereditary syndrome characterized by renal disease, nerve deafness, and sometimes by lesions of the ocular lens, is reported. A total of 10 apparently unrelated families are known to us, either in the literature or in unpublished data, to have been affected by the syndrome. The pattern of inheritance of the renal disease appears to be due to a dominant gene, which may be partially sex-linked, males being more severely affected than females. Evidence is presented which indicates that the auditory and ocular lesions are due to the presence of the same abnormal gene. The histologic appearance of the terminal renal lesion is usually that of a chronic interstitial pyelonephritis. Suggestions regarding the possible etiology of the syndrome are advanced.