Abstract
Six children (2F, 4M) have been treated up to 6 years with a phosphate supplement by mouth 5 times daily (1–4g Pi/d). This regime required 27 home visits/pt/year but yielded a serum Pi conc. of 3.75 ± 0.8 mg% for the group. This in turn achieved: 1) complete healing of rickets in all; 2) satisfactory bone density; 3) marked catch-up growth in 5 of 6 patients. Serum PTH was normal in 4 previously untreated patients (mean = 35 μl Eq/ml, normal <40), but was raised during phosphate treatment (mean = 150 μl Eq/ml; 6 patients, 11 determinations). Secondary hyperparathyroidism with bone signs and hyperaminoaciduria occurred in 3 patients, reduction of phosphate and use of vitamin D2 (50–100,000 u/d) suppressed parathyroid hyperactivity. Net tubular reabsorpiton of phosphate studied intensively in one patient was constantly saturated at 39–50 μmoles/100 ml GFR (normal <90) over a serum Pi range from 1.5 to 7.3 mg%, and at endogenous serum PTH concs. varying between 28 and 490 μl Eq/ml. A primary renal disorder of phosphate reabsorption, which is insensitive to PTH and can be offset by dietary phosphate suplements, is proposed for this X-linked trait.
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Glorieux, F., Arnaud, C., Clow, C. et al. X-linked hypophosphatemic rickets: A PTH-insensitive transport effect responsive to phosphate. Pediatr Res 5, 392 (1971). https://doi.org/10.1203/00006450-197108000-00088
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DOI: https://doi.org/10.1203/00006450-197108000-00088