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[Determination of metabolites of vitamin D in a case of Debré-De Toni-Fanconi syndrome secondary to cystinosis].

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.