We have studied 5 children in 2 families, 3 boys in family A and 2 girls in family B, who had the onset of nephrotic syndrome in early infancy. The syndrome proved to be steroid-resistant, although there was no evidence of tubular failure initially. Growth retardation, renal osteodystrophy, and tetany appeared in several at an early age, and all manifested these symptoms eventually. Glycosuria, aminoaciduria, and nephrocalcinosis also appeared. Renal biopsies from 2 children in each family showed glomerular proliferative changes, glomerular scarring, interstitial inflammation, and microcalcinosis together with marked tubular atrophy. Autopsy studies were completed on 2 boys. Each boy died when about 8 years old. One girl is preterminal with renal failure at 8 years of age. Hypertension was present only terminally. The youngest boy in family A has not yet developed nephrocalcinosis. Total-body composition studies on 1 boy and 2 girls showed increased exchangeable sodium, increase in extracellular water, decrease in total body potassium, and decrease in intracellular potassium. Whereas tubular failure previously has been reported in patients with long-standing nephrotic syndrome, we believe these cases differ in that they are familial and have interstitial nephritis and nephrocalcinosis.
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