[Adolescent cystinosis. Review of the literature and case report (author's transl)].
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.
D000293:Adolescent; D000367:Age Factors; D001853:Bone Marrow / Q000032:analysis; D003315:Cornea / Q000032:analysis; D003404:Creatinine / Q000097:blood; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications; D008297:Male
D003553:Cystine; D003404:Creatinine
Adoleszenten-Zystinose. Literaturübersicht mit eigener Beobachtung.