Familial occurrence of renal and intestinal disease associated with tissue autoantibodies
D. Ellis, S. E. Fisher, W. I. Smith Jr and R. Jaffe
Chronic tubulointerstitial renal disease and villous atrophy of the small
intestine occurred in two first cousins. Both had protracted diarrhea with
malabsorption and died despite intensive parenteral alimentation. In one
patient signs of generalized proximal tubular dysfunction developed,
followed by nephrotic syndrome and progressive renal insufficiency. A renal
biopsy specimen disclosed severe tubulointerstitial disease and membranous
glomerulopathy. In this patient, circulating immune complexes were detected
and granular deposits of IgG and C3 were seen in the intestinal epithelial
cells by direct immunofluorescence. Antiintestinal antibodies (IgG class)
were demonstrated by indirect immunofluorescence. The other patient had
interstitial nephritis but no glomerular abnormality. On direct
immunofluorescence, both patients had confluent granular staining of the
renal tubular basement membranes. These immunopathologic studies suggest a
common immunologic mechanism in the pathogenesis of the renal and
gastrointestinal disorders in these infants.
