Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature

Clin Nephrol. 1976 Dec;6(6):529-36.


This paper describes the clinical history of two male nontwin siblings with late-onset cystinosis, a variant of cystine storage disease. The diagnosis was established clinically and confirmed by measurement of cystine concentrations in leucocytes and skin-fibroblasts. Both patients presented with an incomplete nephrotic syndrome and renal biopsy showed, in addition to lesions of polykaryocytosis, a picture of focal and segmental glomerular hyalinosis. Renal function was stable in one patient over a follow-up period of two years; the other patient progressed toward terminal renal failure and was successfully transplanted.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy
  • Bone Marrow
  • Complement C3 / analysis
  • Cystine / analysis
  • Cystinosis / complications*
  • Cystinosis / metabolism
  • Cystinosis / pathology
  • Fibroblasts / analysis
  • Glomerulonephritis / etiology*
  • Glomerulonephritis / pathology
  • Humans
  • Immunoglobulins / analysis
  • Kidney / immunology
  • Kidney Glomerulus / pathology
  • Leukocytes / analysis
  • Male
  • Skin


  • Complement C3
  • Immunoglobulins
  • Cystine