Brame Lori A, White Kenneth E, Econs Michael J
Department os Medicine, Indiana University School of Medicine, Indiana, IN 46202, USA.
Semin Nephrol. 2004 Jan;24(1):39-47. doi: 10.1053/j.semnephrol.2003.08.016.
Rickets and osteomalacia are associated with hypophosphatemia in several disease states, including X-linked hypophosphatemic rickets, autosomal-dominant hypophosphatemic rickets, and tumor-induced osteomalacia. Recent advances in the understanding of these diseases include discovery of mutations in the genes encoding human phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and fibroblast growth factor 23 (FGF-23) and the finding of overproduction of FGF-23 and other proteins including matrix extracellular phosphoglycoprotein (MEPE) and frizzled-related protein 4 (FRP-4) in tumor-induced osteomalacia. Research is ongoing to better define how these proteins relate to each other and to the sodium-phosphate cotransporter in both normal and abnormal phosphate metabolism. New and improved therapies for disorders of phosphate metabolism, osteomalacia, and rickets will develop as our knowledge of phosphate metabolism grows.
佝偻病和骨软化症在多种疾病状态下与低磷血症相关，包括X连锁低磷性佝偻病、常染色体显性低磷性佝偻病以及肿瘤诱导的骨软化症。对这些疾病认识的最新进展包括发现了与X染色体上的内肽酶具有同源性的人类磷酸盐调节基因（PHEX）和成纤维细胞生长因子23（FGF-23）编码基因中的突变，以及在肿瘤诱导的骨软化症中发现FGF-23和其他蛋白质（包括基质细胞外磷酸糖蛋白（MEPE）和卷曲相关蛋白4（FRP-4））的过度产生。目前正在进行研究，以更好地确定这些蛋白质在正常和异常磷酸盐代谢中如何相互关联以及与钠-磷酸盐共转运体的关系。随着我们对磷酸盐代谢知识的增长，将开发出针对磷酸盐代谢紊乱、骨软化症和佝偻病的新的和改进的治疗方法。
