A single case of hypophosphatemic rickets with hypercalciuria.
A single case of hypophosphatemic rickets with hypercalciuria and an elevated level of serum 1,25 dihydroxyvitamin D is reported. The characteristic features (genu valgum, rickets, short stature, increased renal phosphate excretion, decreased serum phosphorus level, elevated serum alkaline phosphatase level, and normal serum calcium level) were comparable to those in hypophosphatemic vitamin D resistant rickets. Massive doses of 1 alpha-hydroxyvitamin D were not effective for the rickets and the biochemical defect in this patient. Long-term phosphate supplementation on its own resulted in the reversal of all clinical and biochemical abnormalities except for the decreased ratio between the maximum tubular reabsorption rate for phosphorus and the glomerular filtration rate. In this patient, the concentration of serum 1,25 dihydroxyvitamin D seemed to be controlled by the concentration of serum phosphorus rather than by the serum parathyroid hormone level. It is noted that this is the first case of a single hypophosphatemic rickets with hypercalciuria.
D002117:Calcitriol / Q000097:blood; D002118:Calcium / Q000652:urine*; D002675:Child, Preschool; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D008297:Male; D010710:Phosphates / Q000097:blood*; D010758:Phosphorus / Q000097:blood / Q000627:therapeutic use; D012279:Rickets / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*
D006887:Hydroxycholecalciferols; D010710:Phosphates; D010758:Phosphorus; D002117:Calcitriol; D002118:Calcium; C008088:alfacalcidol