The effects of
25-hydroxycholecalciferol were studied in 4 children with deficiency
rickets and 22 children with D-resistant
rickets, including patients with hereditary hypophosphatemic D-resistant
rickets, "pseudo-deficiency"
rickets, and
rickets secondary to
cystinosis or to
tyrosinosis. Three protocols were used. (a) 8 days after a single oral dose of 16,000 IU of
25-hydroxycholecalciferol, normalization of all
biological parameters was observed in all cases of deficiency
rickets. A complete lack of response was observed in the different types of resistant
rickets. (b) Under prolonged administration of 2,640 IU/day for 2 months, clinical-
biological symptoms and X-ray lesions disappeared, and a catch-up growth pattern was observed in deficiency
rickets; no relapse of
rickets occurred up to 5 months after
therapy was stopped. The same dose had no significant effect in 10 patients with hereditary hypophosphatemic D-resistant
rickets. A bone biopsy performed in one case showed the persistence of characteristic lesions. (c) With increasing doses of
25-hydroxycholecalciferol varying from 6,000 to 30,000 IU/day and a follow-up of 6 months up to 2 yr duration, clinical-
biological-radiologic recovery and catch-up growht was obtained in all cases of "pseudo-deficiency"
rickets. In hypophosphatemic hereditary D-resistant
rickets, 5 out of 13 patients' serum concentration of
phosphorus reached at least 30 mg/liter, but a catch-up growth pattern was not observed. These results indicate that (a)
25-hydroxycholecalciferol is highly active in deficiency
rickets; (b) a defect in the conversion of
vitamin D(3) to its active 25-hydroxy metabolite is probably not the metabolic defect in any of the different types of
vitamin D-resistant rickets studied.