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

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.

• Authors: A Ottolenghi, G Colussi, A De Chiara, R Gerosa, C Gasparro, B Colacicco
• Journal: La Pediatria medica e chirurgica : Medical and surgical pediatrics (Pediatr Med Chir) 1986 Mar-Apr Vol. 8 Issue 2 Pg. 287-90 ISSN: 0391-5387 [Print] Italy
• Vernacular Title: Dosaggio dei metaboliti della vitamina D in un caso di sindrome di Debré-De Toni-Fanconi secondaria a cistinosi.
• PMID: 3491362 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Dihydroxycholecalciferols
• 24,25-Dihydroxyvitamin D 3
• Calcitriol
• Calcifediol

Topics

• 24,25-Dihydroxyvitamin D 3
• Calcifediol (blood)
• Calcitriol (blood)
• Cystinosis (complications)
• Dihydroxycholecalciferols (blood)
• Fanconi Syndrome (blood, urine)
• Humans
• Infant
• Male