Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature.
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.
D000293:Adolescent; D001706:Biopsy; D001853:Bone Marrow; D003176:Complement C3 / Q000032:analysis; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D005347:Fibroblasts / Q000032:analysis; D005921:Glomerulonephritis / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007668:Kidney / Q000276:immunology; D007678:Kidney Glomerulus / Q000473:pathology; D007962:Leukocytes / Q000032:analysis; D008297:Male; D012867:Skin
D003176:Complement C3; D007136:Immunoglobulins; D003553:Cystine