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A Follow-Up Study of Hereditary Chronic Nephritis
G. T. PERKOFF, M.D.;
C. A. NUGENT, Jr., M.D.;
D. A. DOLOWITZ, M.D.;
F. E. STEPHENS, Ph.D.;
W. H. CARNES, M.D.;
F. H. TYLER, M.D.
AMA Arch Intern Med. 1958;102(5):733-746.
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In 1951 we reported the genetically predictable occurrence of chronic renal disease with associated nerve deafness in a large family.1,2 One hundred thirty-four members of the family were examined, and adequate clinical data were available concerning three of seven males in the family who had died of uremia in the recent or remote past. Of the 44 members involved, 43 had pyuria, 32 had hematuria, all had cylinduria, and for 17 of 32 studied, the urine cultures were positive for bacteria. Of 59 patients studied, 14 had abnormal audiograms. Five of those with hearing deficits showed no evidence of renal disease at the time of examination, but two of these were found to be carriers of the trait for renal disease in that the renal lesion was observed in their descendants. Microscopic sections from one postmortem examination showed severe, diffuse interstitial pyelonephritis with inflammatory infiltrate, microscopic abscesses, normal glomeruli,
. . . [Full Text PDF of this Article]
Author Affiliations
Salt Lake City
From the Departments of Medicine, Surgery and Pathology and the Laboratory for the Study of Hereditary and Metabolic Disorders of the University of Utah College of Medicine.
Footnotes
Submitted for publication March 26, 1958.
John and Mary R. Markle Scholar in Medical Science (Dr. Perkoff).
This work was supported in part by a research grant from the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, U. S. Public Health Service, Department of Health, Education, and Welfare, Washington, D. C.
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