FAMILIAL NEPHRITIS, A VARIANT OF ALPORT'S SYNDROME?

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A form of familial nephritis with many features distinct from Alport's Syndrome (AS) was diagnosed in 7 of 10 children of clinically unaffected parents. The disease is manifested by progressive renal failure without antecedent hematuria, proteinuria or discernible auditory and ocular defects. The disease is more severe in females, 3 of 4 affected reaching end-stage by age 12 years. Of 3 affected males, only one 17 year old has developed chronic renal failure.Biopsies in 3 of 4 clinically unaffected siblings, 3 female and 1 male, showed focal glomerular as well as interstitial changes with normal vasculature; no immune complex deposits were seen. The chief ultrastructural features were 1) thinning of several peripheral glomerular capillary basement membranes (GBM) in all 2) irregular GBM thickening with small lucent areas in a few loops 3) small podocytes frequently sprouting foot processes directly from scant perniculear cytoplasm. The characteristic changes of AS were not seen in 3. However, in the fourth patient one isolated loop showed changes that resembled or were compatible with these of AS.Because of the absence of a family history, the asymptomatic progressive renal failure particularly in young females and some unusual ultrastructural features, we suggest this family represents either a variant of AS or an undescribed form of familial glomerulonephritis.