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A case of adolescent cystinosis in a 17 1/2 year-old boy is reported. The metabolic disorder was diagnosed at the age of 13 years. Cystine was demonstrated in cornea and bone marrow and was increased in fibroblasts (3.64 nMol 1/2-cystine/mg protein). The renal lesions were characteristic of mesangioproliferative glomerulonephritis. The rate of detoriation in renal function increased from 1.5 to 6.6 mg/100 ml serum creatinine during the time of follow up. As well as the parents one brother (0.51 nMol 1/2-cystine/mg protein) appears to be a heterozygote carrier of the cystinosis gene. The striking features in adolescent cystinosis were shown by a review of the literature and the present case report.
H P Weber, and
E Harms, and
G Knöpfle
September 1974,
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H P Weber, and
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