Abstract
Rickets in a 3-year-old boy and his 1-year-old sister, both with alopecia, was cured by treatment with 50,000IU of vitamin D2 daily for 2 years and did not recur within 14 years after cessation of therapy. A diagnosis of vitamin-D-dependent rickets type II was made in these patients at the ages of 20 and 18 years based on the findings that 1,25-dihydroxyvitamin D3 [1,25 (OH)2D3] did not inhibit DNA biosynthesis in phytohaemagglutinin-stimulated lymphocytes and that cultured skin fibroblasts showed impaired nuclear uptake and normal cytosol binding of [3H] 1,25(OH)2D3. Surprisingly, the serum 1,25(OH)2D levels of these patients were high and their serum 24,25-dihydroxyvitamin D levels were low, although neither patient showed any symptoms except alopecia. The presence of vitamin D metabolite imbalances in the absence of rickets in these patients might be explained by differences in sensitivity to 1,25(OH)2D3 of bone formation and vitamin D metabolism. In addition, changes of sensitivity to treatment with vitamin D derivatives might be a consequence of differentiation of target cells. From the present findings, it is suggested that in this disease treatment with a sufficient dose of vitamin D derivatives should be initiated in the active phase of rickets.
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Abbreviations
- cyclic AMP:
-
adenosine 3′, 5′-cyclic monophosphate
- PHA:
-
phytohaemagglutinin
- 1,25 (OH)2D:
-
1,25-dihydroxyvitamin D
- 24,25 (OH)2D:
-
24,25-dihydroxyvitamin D
- 25 (OH)D:
-
25-hydroxyvitamin D
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Takeda, E., Yokota, I., Kawakami, I. et al. Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy. Eur J Pediatr 149, 54–57 (1989). https://doi.org/10.1007/BF02024336
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DOI: https://doi.org/10.1007/BF02024336