Abstract
A hypophosphataemic mother gave birth to a clinicaly normal boy. The serum values in the cord blood and at 3 weeks of age were: Ca 11.9 and 9.8 mg%, P 4.7 and 3.6 mg%, iPTH 15 and 25 ng/ml (upper normal limit: 40 ng/ml). Rickets appeared at 8 weeks. Treatment with 4 × 1 g neutral Na-phosphate per day during 6 weeks, without Vitamin D, resulted in a rise of serum P to 5.6 mg%, a borderline hypocalcaemia of 8.5 mg% and secondary hyperparathyroidism (iPTH 122 ng/ml), but had no influence on the development of rickets. The addition of 0.25 up to 1.75 mg/day of Vitamin D3, produced a rise of serum Ca to the upper normal limit, a normalisation of iPTH, and an improvement of the rickets. The continued treatment with Vitamin D and oral phosphate during the following two years maintained reasonable but labile serum P-levels, only slightly increased alk. phosphatase levels and a partial control of metaphyseal rickets. However, we failed to prevent the development of the typical fluffy trabecular bone structur, the bowing of the legs and the slowing-down of the growth rate from the 75th percentile at the age of 6 months to the 10th percentile at 2 years.
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Fanconi, A., Fischer, J. 141: Evolution of familial hypophosphataemic rickets during the first two years of life. Pediatr Res 10, 893 (1976). https://doi.org/10.1203/00006450-197610000-00132
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DOI: https://doi.org/10.1203/00006450-197610000-00132