[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.
D015650:24,25-Dihydroxyvitamin D 3; D002112:Calcifediol / Q000097:blood*; D002117:Calcitriol / Q000097:blood*; D003554:Cystinosis / Q000150:complications*; D004100:Dihydroxycholecalciferols / Q000097:blood*; D005198:Fanconi Syndrome / Q000097:blood* / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male
D004100:Dihydroxycholecalciferols; D015650:24,25-Dihydroxyvitamin D 3; D002117:Calcitriol; D002112:Calcifediol
Dosaggio dei metaboliti della vitamina D in un caso di sindrome di Debré-De Toni-Fanconi secondaria a cistinosi.