Novel regulators of phosphate homeostasis in phosphate wasting disorders

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This project investigates two phosphate wasting disorders - tumour-associated osteomalacia and inherited X-linked low phosphate rickets. The active factor responsible for the tumour-associated condition remains unidentified and despite isolation of the gene responsible, the mechanism of the inherited rickets is also unexplained . The proposed outcomes of this project address both these issues. Whilst the condition of the tumour-associated osteomalacia is relatively uncommon, it continues to be a clinical problem because its presentation is often non-specific and the tumour is often very difficult to find. To date our studies have helped in the identification of patients likely to have the condition. Furthermore, while the phosphate wasting factor may be produced in abnormally large amounts by the tumour in this condition, it is likely that the factor and the enzyme which may be associated with it have physiological roles in maintaining normal phosphate concentrations. Looking further ahead, the phosphate wasting factor may have a clinical use in patients with renal failure and phosphate retention.