Yu Xijie, White Kenneth E
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Ther Apher Dial. 2005 Aug;9(4):308-12. doi: 10.1111/j.1744-9987.2005.00287.x.
Fibroblast growth factor 23 (FGF23) is a circulating factor that plays critical roles in phosphate and vitamin D metabolism, as evidenced by the fact that FGF23 missense mutations cause autosomal dominant hypophosphatemic rickets (ADHR). Autosomal dominant hypophosphatemic rickets is characterized by hypophosphatemia with inappropriately normal 1,25-dihydroxyvitamin D concentrations, as well as bone pain, fracture and rickets. This phenotype parallels that of patients with tumor induced osteomalacia (TIO), X-linked hypophosphatemic rickets (XLH), and fibrous dysplasia (FD), in whom elevated serum FGF23 levels are often observed. The fibroblast growth factor receptors (FGFR1-4) play key roles in skeletal development, as well as in normal metabolic processes. Several FGFR isoforms that potentially mediate the activity of FGF23 have been implicated. In the short term, these findings will lead to further understanding of FGF23 function, and potentially in the long term, to targeted therapies in disorders of hypo- and hyperphosphatemia that involve FGF23.
成纤维细胞生长因子23（FGF23）是一种循环因子，在磷酸盐和维生素D代谢中起关键作用，FGF23错义突变导致常染色体显性低磷性佝偻病（ADHR）这一事实证明了这一点。常染色体显性低磷性佝偻病的特征是低磷血症伴1,25 - 二羟基维生素D浓度正常以及骨痛、骨折和佝偻病。这种表型与肿瘤诱导的骨软化症（TIO）、X连锁低磷性佝偻病（XLH）和骨纤维发育不良（FD）患者的表型相似，这些患者血清FGF23水平通常会升高。成纤维细胞生长因子受体（FGFR1 - 4）在骨骼发育以及正常代谢过程中起关键作用。已经发现了几种可能介导FGF23活性的FGFR异构体。短期内，这些发现将有助于进一步了解FGF23的功能，从长远来看，可能有助于针对涉及FGF23的低磷血症和高磷血症疾病进行靶向治疗。
