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Activity of renal 25-hydroxyvitamin D3-1α-hydroxylase in a case of X-linked hypophosphataemic rickets

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Abstract

In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia.

The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25 OHD3)-1α-hydroxlase were measured in 1982 (about 2 weeks after withdrawal of medication). 1α-hydroxylase was 392 pg/mg tissue/20 min in the patient, which was high compared with aged-matched controls (69.7±28.5 pg/mg tissue/20 min, mean ±SD, n=7). Our present studies showed that the 1α-hydroxylase activity in the patient with XLH was elevated. Therefore, the normal or low 1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) concentrations in XLH patients could be due to accelerated catabolism of 1,25-(OH)2D3 or abnormally regulated 25OHD3-1α-hydroxylase in response to hypophosphataemia, although significantly elevated above that in normal controls.

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Abbreviations

XLH:

X-linked hypophosphataemic rickets

CPBA:

Competitive protein binding assay

Al-P:

alkaline phosphatase

P:

phosphate

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Authors and Affiliations

  1. Department of Pediatrics, Osaka University School of Medicine, Fukushima-ku, 553, Osaka, Japan

    Y. Seino, K. Satomura, K. Yamaoka, Y. Tanaka, H. Tanaka, T. Yamamoto, M. Ishida & H. Yabuuchi

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  1. Y. Seino
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  2. K. Satomura
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  3. K. Yamaoka
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  4. Y. Tanaka
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  5. H. Tanaka
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  6. T. Yamamoto
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  7. M. Ishida
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  8. H. Yabuuchi
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Seino, Y., Satomura, K., Yamaoka, K. et al. Activity of renal 25-hydroxyvitamin D3-1α-hydroxylase in a case of X-linked hypophosphataemic rickets. Eur J Pediatr 142, 219–222 (1984). https://doi.org/10.1007/BF00442454

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  • DOI: https://doi.org/10.1007/BF00442454

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