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  • Title: [Determination of metabolites of vitamin D in a case of Debré-De Toni-Fanconi syndrome secondary to cystinosis].
    Author: Ottolenghi A, Colussi G, De Chiara A, Gerosa R, Gasparro C, Colacicco B.
    Journal: Pediatr Med Chir; 1986; 8(2):287-90. PubMed ID: 3491362.
    Abstract:
    A patient affected with Debrè-De Toni-Fanconi syndrome secondary to cystinosis, has been given doses of vitamin D metabolites. This resulted in a reduced plasma 1,25(OH)2D level. This data should confirm, as it has already been noted in literature. There is a defect in renal 1 alpha hydroxylation of 25OHD. The administration of 1 alpha dihydroxycholecalciferol has brought rapid improvement to severe metabolic bone disease. There are no noticed side effects.
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