title: Oncogenic osteomalacia: is there a new phosphate regulating hormone?
abstract: Oncogenic osteomalacia is a syndrome associated with rare, usually mesenchymal tumours, which is characterized by hypophosphataemia, phosphaturia and low concentrations of 1,25-dihydroxyvitamin D. The reversal of clinical and biochemical abnormalities following removal of the tumour, indicates it is the source of a humoral factor that is responsible for these abnormalities. It has been demonstrated that the humoral factor inhibits renal phosphate uptake and reduces 1,25-dihydroxyvitamin D production. Although there is evidence that it may act via parathyroid hormone/parathyroid hormone-related peptide receptors and may be a peptide, the factor has not yet been identified, nor has its relationship to factors involved in X-linked hypophosphataemic rickets been established. We propose unifying hypotheses for the pathogenesis of oncogenic osteomalacia and X-linked hypophosphataemic rickets which involve defects in the PEX gene. These hypotheses do not fully explain all the available data and it remains possible that hormone(s) with little or no role in X-linked hypophosphataemic rickets may be responsible for oncogenic osteomalacia.
authors.affiliation: Department of Molecular Genetics, Kolling Institute of Medical Research, University of Sydney, Royal North Shore Hospital, Australia. annen@med.usyd.edu.au
authors.forename: A E
authors.initials: AE
authors.lastname: Nelson
authors.forename: B G
authors.initials: BG
authors.lastname: Robinson
authors.forename: R S
authors.initials: RS
authors.lastname: Mason
mesh_terms: D000818:Animals; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D009154:Mutation; D009363:Neoplasm Proteins / Q000378:metabolism*; D009369:Neoplasms / Q000150:complications* / Q000378:metabolism / Q000652:urine; D010018:Osteomalacia / Q000209:etiology* / Q000652:urine; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D010455:Peptides / Q000378:metabolism; D010710:Phosphates / Q000652:urine; D011506:Proteins / Q000235:genetics
chemical_list: D009363:Neoplasm Proteins; D010455:Peptides; D010710:Phosphates; D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human; C506232:Phex protein, mouse