Disorders of Phosphate Homeostasis and Tissue Mineralisation
Disorders of Phosphate Homeostasis and Tissue Mineralisation
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DOI：
10.1159/000223693
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发表时间：
2009-01-01
期刊：
影响因子：
--
通讯作者：
Jueppner, Harald
中科院分区：
文献类型：
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作者：
Bergwitz, Clemens;Jueppner, Harald
磷酸盐从肠道中的饮食中吸收，以羟基磷灰石的形式储存在骨骼中，并随尿液排泄。这些隔室之间的平衡决定了循环中的磷酸盐浓度。成纤维细胞生长因子23(FGF23)是最近发现的，是以前未知的激素性骨肾轴的一部分。与X染色体上的内肽酶同源的磷酸调节基因和牙本质基质蛋白1调节骨细胞中FGF23的表达，然后由UDP-N-乙酰-α-D-氨基半乳糖：多肽N-乙酰氨基半乳糖转移酶3 O-糖基化并分泌到循环中。FGF23在其共同受体Klotho的存在下与成纤维细胞生长因子受体Ic结合，具有高亲和力。它直接或间接地抑制肾近端小管对磷酸盐的重吸收和1，25-二羟基维生素D的合成，以及甲状旁腺分泌甲状旁腺激素。后天或先天的错误会影响这一新发现的激素系统，可能会导致异常的磷酸盐稳态和/或组织矿化。本章将提供关于磷酸盐稳态和组织矿化紊乱的病理生理学、临床表现、诊断评估和治疗的最新知识。版权所有(C)2009 S.Karger AG，巴塞尔
Phosphate is absorbed from the diet in the gut, stored as hydroxyapatite in the skeleton, and excreted with the urine. The balance between these compartments determines the circulating phosphate concentration. Fibroblast growth factor 23 (FGF23) has recently been discovered and is part of a previously unrecognised hormonal bone-kidney axis. Phosphate-regulating gene with homologies to endopeptidases on the X chromosome, and dentin matrix protein 1 regulate the expression of FGF23 in osteocytes, which then is O-glycosylated by UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyl-transferase 3 and secreted into the circulation. FGF23 binds with high affinity to fibroblast growth factor receptor I c in the presence of its co-receptor Klotho. It inhibits, either directly or indirectly, reabsorption of phosphate and the synthesis of 1,25-dihydroxy-vitamin-D by the renal proximal tubule and the secretion of parathyroid hormone by the parathyroid glands. Acquired or inborn errors affecting this newly discovered hormonal system can lead to abnormal phosphate homeostasis and/or tissue mineralisation. This chapter will provide an update on the current knowledge of the pathophysiology, the clinical presentation, diagnostic evaluation and therapy of the disorders of phosphate homeostasis and tissue mineralisation. Copyright (C) 2009 S. Karger AG, Basel