研究人员针对甲状旁腺磷酸盐(Pi)感知机制未阐明的科学问题，开展了PHEX蛋白在X连锁低磷血症(XLH)与肿瘤性骨软化症(TIO)患者中调节甲状旁腺激素(PTH)分泌的对比研究。通过口服Pi负荷试验发现，XLH患者血清iPTH随Pi升高的斜率(41.4)显著高于TIO组(7.1)，提示PHEX可能 ...

X连锁低磷性佝偻病（XLH）是一种少见的遗传代谢性疾病，主要由PHEX基因突变引起。这种基因突变会导致人体内调节磷代谢的重要因子FGF23（成纤维细胞生长因子）水平异常升高，进而引起肾脏排磷增加、活性维生素D生成减少、肠道对磷吸收下降，最终造成持续性低磷血症。简单理解，XLH会持续造成患者体内磷水平低，继而引发一系 ...

本文推荐APEX项目（推进XLH患者证据）的基线分析，该研究整合三大区域观察性数据（n=1556），系统描绘X连锁低磷血症（XLH）的全球流行病学特征、生化指标异常（如低血磷、高FGF23）及随年龄增长的并发症趋势（如齿科问题、骨折），为这种PHEX基因突变导致的 ...

HR is defined as a group of rachitic bone diseases associated with chronic hypophosphatemia, which results from defects in the renal tubular reabsorption of filtered phosphate (1–8). Clinically, XLH, ...

This letter reports an association between acquired osteomalacia and autoantibodies against PHEX (phosphate-regulating endopeptidase X-linked), which may be termed autoimmune osteomalacia.

The discovery of fibroblast growth factor 23 (FGF-23) has expanded our understanding of phosphate and vitamin D homeostasis and provided new insights into the pathogenesis of hereditary ...