PEDIATRICS Vol. 35 No. 6 June 1965, pp. 967-979
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HEREDITARY RENAL DYSFUNCTION AND DEAFNESS

George Cassady M.D.1, Kenneth Brown M.D.1, Maimon Cohen Ph.D.1, and William DeMaria M.D.1

1 Duke University School of Medicine, Department of Pediatrics, Durham, North Carolina and National Institute of Dental Research, Human Genetics Section, National Institutes of Health, Bethesda, Maryland

For the past six years we have been engaged in the study of 476 members of seven families with hereditary renal disease and deafness. We have been profoundly impressed with the commonness of the syndrome and by the wide spectrum of clinical findings with which the disorder may present. We have often uncovered the syndrome successfully mimicking acute and chronic nephritis and pyelonephritis in university hospitals and schools for the deaf, and we suspect a much greater frequency than is generally recognized.

The clinical features of families with this disorder are remarkedly similar in spite of the broad clinical spectrum of the disease in individual patients. This had led us to consider the syndrome as a single disease state.

Males with deafness in the first two decades of life have more severe renal impairment, and risk of early death is much higher in this group. A significant number of males were found to have little hearing impairment early in life and, although urinary sediment abnormalities were present, to run a more chronic course. Late in life this group has unequivocal evidences of renal disease and progressive hearing impairment, but a shortened life span does not seem to be characteristic. Urinary sediment in both groups of males is characterized by red cells; proteinuria and (less frequently) pyuria are sometimes associated with the hematuria, and on rare occasion isolated pyuria may be present. Otitis media is suggestively but not significantly increased in our affected males; eye defects, particularly myopic refractive errors, are significantly increased in the affected females.

No single, simple diagnostic test has been found. The importance of a careful history and repeated urine examination and a high index of suspicion when these techniques reveal abnormality has been shown, and certain clinical criteria for diagnosis which have proven of value have been offered.

Submitted on September 28, 1964
Accepted on December 27, 1964