Phosphate is a cornerstone of several physiological pathways including skeletal development, bone mineralization, membrane composition, nucleotide structure, maintenance of plasma pH, and cellular signaling. The kidneys have a key role in phosphate homeostasis with three hormones having important functions in renal phosphate handling or intestinal absorption: parathyroid hormone (PTH), fibroblast growth factor 23 (FGF23), and 1-25-dihydroxyvitamin D (1,25(OH)2D). FGF23 is mainly synthesized by osteocytes; it is a direct phosphaturic factor that also inhibits 1,25(OH)2D and PTH. In addition to crucial effects on phosphate and calcium metabolism, FGF23 also has 'off-target' effects notably on the cardiovascular, immune and central nervous systems. Genetic diseases may affect the FGF23 pathway, resulting in either increased FGF23 levels leading to hypophosphatemia (such as in X-linked hypophosphatemia) or defective secretion/action of intact FGF23 inducing hyperphosphatemia (such as in familial tumoral calcinosis). The aim of this review is to provide an overview of FGF23 physiology and pathophysiology in X-linked hypophosphatemia, with a focus on FGF23-associated genetic diseases.

中文翻译：

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FGF23的生理学和与肾脏磷酸盐消耗有关的遗传疾病概述。

磷酸盐是几种生理途径的基石，包括骨骼发育，骨骼矿化，膜组成，核苷酸结构，血浆pH值维持和细胞信号传导。肾脏在磷酸盐体内平衡中起关键作用，其中三种激素在肾脏磷酸盐处理或肠道吸收中具有重要功能：甲状旁腺激素（PTH），成纤维细胞生长因子23（FGF23）和1-25-二羟基维生素D（1,25（OH ）2D）。FGF23主要是由骨细胞合成的。它是直接的磷酸性因子，也抑制1,25（OH）2D和PTH。除了对磷酸盐和钙代谢的关键作用外，FGF23还具有“脱靶”作用，特别是对心血管，免疫和中枢神经系统。遗传病可能会影响FGF23通路，导致FGF23水平升高导致低磷血症（例如在X连锁低磷血症中）或完整的FGF23诱导高磷血症的分泌/作用缺陷（例如在家族性肿瘤性煅烧中）。这篇综述的目的是概述X连锁性低磷酸盐血症中的FGF23生理学和病理生理学，重点是与FGF23相关的遗传性疾病。