Our understanding of the regulation of phosphate balance has benefited tremendously from the molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the glycosyltransferase GALNT3, the endopeptidase PHEX, and the matrix protein DMP1, and molecules that function as downstream effectors of FGF23 such as the longevity factor Klotho and the phosphate transporters NPT2a and NPT2c, has permitted us to understand the complex interplay that exists between the kidneys, bone, parathyroid, and gut. Such insights from genetic disorders have allowed not only the design of potent targeted treatment of FGF23-dependent hypophosphatemic conditions, but also provide clinically relevant observations related to the dysregulation of mineral ion homeostasis in health and disease.

中文翻译：

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磷酸盐稳态失调。

我们对磷酸盐平衡调节的理解极大地受益于遗传缺陷的分子鉴定和表征，遗传缺陷导致许多罕见的遗传性或获得性疾病，影响磷酸盐的体内平衡。鉴定关键的磷酸调节激素，成纤维细胞生长因子23（FGF23）以及其他控制其产生的分子，例如糖基转移酶GALNT3，内肽酶PHEX和基质蛋白DMP1，以及充当下游分子诸如长寿因子Klotho和磷酸盐转运蛋白NPT2a和NPT2c之类的FGF23效应子，使我们能够了解肾脏，骨骼，甲状旁腺和肠道之间存在的复杂相互作用。