The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies

Nephropathic cystinosis results from lysosomal cystine storage and, if untreated with cysteamine, results in end-stage renal disease by 10 years of age. The renal Fanconi syndrome occurs in the first year of life and is accompanied by a characteristic “swan neck” deformity of the proximal renal tubule. The linkage between cystine storage, Fanconi syndrome, and renal failure has not been understood. This study reports the presence of substantial numbers of atubular glomeruli (ATG) in end-stage cystinotic renal tissue. Compared to normal renal tissue, cystinotic kidneys at end stage had 69% atubular glomeruli and 30% atrophic glomeruli. Normal renal tissue had 4% ATG and 0% atrophic glomeruli (p < 0.0001 for both comparisons). These nonfunctioning nephrons may be the end result of cell loss from the tubules and represent the final stage of the swan neck deformity. The process is consistent with the previously reported increased apoptosis in renal tubule cells due to lysosomal cystine storage.