Abstract
Cystinosis has not been associated with massive proteinuria. Although tubular dysfunctions are frequently noted, data on tubular kinetics prior to the onset of renal failure are lacking. Glomerular filtration rate(Cin), renal plasma flow(CpAH). urinary concentration(U/Posm), amino acid excretion, maximum tubular reabsorption of glucose(TmG) and secretion of PAH (TmpAH), and urinary acidification were measured in 3 siblings (2 boys 12 and 18 yrs and a 9 yr old girl) with cystinosis and massive proteinuria(6.0, 13.0 and 2.0 Gm/day). Renal biopsy was performed in all. Light and electron-microscopy and immunofluorescent studies were done. Despite normal Cin in patients 1 and 3, tubular functions were already impaired. Patient 2 had the worse function. Phosphaturia, aminoaciduria and failure to acidify were noted. The biopsy showed glomerular sclerosis in all patients and exudative lesions in patient 2. Noimmune complex deposits were seen. Cystine crystals were present in tubular cells, in the lumen and interstitium.
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