Phosphate homeostasis disorders
Phosphate homeostasis disorders
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DOI：
10.1016/j.beem.2018.06.004
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发表时间：
2018-10-01
影响因子：
7.4
通讯作者：
Juppner, Harald
中科院分区：
文献类型：
--
作者：
Christov, Marta;Juppner, Harald
我们对磷平衡调节的理解得益于基因缺陷的分子鉴定和表征，这些缺陷导致了一些影响磷平衡的罕见的遗传性或获得性疾病。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，如糖基转移酶GALNT3、内肽酶PHEX和基质蛋白DMP1，以及作为FGF23下游效应因子的分子，如长寿因子Klotho和磷酸盐转运蛋白NF‘T2a和NPT2c的发现，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。这些来自遗传疾病的见解不仅使设计有效的靶向治疗FGF23依赖的低磷血症疾病成为可能，而且还提供了与健康和疾病中矿物离子稳态失调相关的临床相关观察。(C)爱思唯尔有限公司出版的2018年。
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 NF'T2a 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. (C) 2018 Published by Elsevier Ltd.