A case of hypophosphataemic bone disease is described. Despite prescribed phosphate (PO4) supplement and 1,25 dihydroxycholecalciferol therapy, serum PO4 levels have remained low with associated diminished theoretical renal threshold for phosphate (TmPO4/GFR) over a seven and a half year follow up period. Linear growth, however, has been normal.
WaltonRJBijvoetOLM. Nomogram for derivation of renal threshold phosphate concentration. Lancet1971; 2: 309–10.
3.
ScriverCRMacdonaldWReadeTGlorieuxFHNogradyB. Hypophosphataemic bone disease; An entity distinct from X-linked hypophosphataemia in the renal defect, bone involvement and inheritance. Am J Med Genetics1977; 1: 101–17.
4.
BorzaniMMauriLRoggeroPAuritiLFacchiniR. Osteopatia ipofosfatemica non rachitica. Pediatr Med Chir1983; 5 (3): 99–102.
ChesneyRWMazessRBRosePHamstraMSDeLucaHF. Supranormal 25hydroxyvitamin D and subnormal 1,25-dihydroxyvitamin D. Their role in X-linked hypophosphataemic rickets. Am J Dis Child1980; 134: 140–43.
7.
DavidLPessoJLCochatPPlauchuHFrancoisR, Rachitisme hypophosphatemique autosomique type Scriver: une observation familiale. Pediatrie1987; 42 (7): 563–68.
8.
ScriverCRReadeTMDeLucaHFHamstraAJ. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med1978; 299 (18): 976–79.
9.
ScriverCRReadeTHalalFCostaTColeDE. Autosomal hypophosphataemic bone disease responds to l,25-(OH)2 D3. Arch Dis Child1981; 56 (3): 203–07.
10.
ClementsMRDaviesMHayesMEHickneyCDLumbGAMawerEBAdamsPH. The role of 1,25-dihydroxyvitamin D in the mechanism of acquired vitamin D deficiency. Clin Endocrinol1992, 37: 17–27.
11.
AlbrightFButlerAMBloombergE. Rickets resistant to vitamin D therapy. Am J Dis Child1937; 54: 529–47.
12.
AlonUChanJCM. Effects of parathyroid hormone and 1,25-dihydroxyvitamin D3 on tubular handling of phosphate in hypophosphatemic rickets. J Clin Endocrinol Metabol1984; 58: 671–75.
