Novel regulators of phosphate homeostasis in phosphate wasting disorders

该项目调查了两种磷酸盐消耗性疾病-肿瘤相关的骨软化症和遗传性X连锁低磷酸盐佝偻病。导致肿瘤相关疾病的活性因子仍未确定，尽管分离出了相关基因，但遗传性佝偻病的机制也无法解释。本项目的拟议成果将解决这两个问题。虽然肿瘤相关性骨软化症的情况相对少见，但它仍然是一个临床问题，因为它的表现往往是非特异性的，肿瘤往往很难找到。到目前为止，我们的研究有助于识别可能患有这种疾病的患者。此外，虽然在这种情况下，肿瘤可能会产生异常大量的磷酸盐消耗因子，但该因子和可能与其相关的酶可能在维持正常磷酸盐浓度方面具有生理作用。展望未来，磷酸盐消耗因子可能在肾衰竭和磷酸盐潴留患者中具有临床用途。

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.