cholecalciferol and Cystinosis

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.

Topics: Administration, Oral; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Bone and Bones; Calcium; Child, Preschool; Cholecalciferol; Citrates; Clinical Trials as Topic; Cystinosis; Drug Resistance; Evaluation Studies as Topic; Humans; Hydroxycholecalciferols; Hypophosphatemia, Familial; Infant; Magnesium; Microradiography; Phosphorus; Rickets; Tyrosine

Topics: Biochemistry; Cholecalciferol; Citric Acid Cycle; Corrinoids; Cysteine; Cystinosis; Hematinics; Methionine; Pyruvates; Sulfhydryl Compounds; Vitamin B 12