Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting

被引：58

作者：

Bacchetta, Justine ^{[1
,2
,3
]}

Bardet, Claire ^{[4
]}

Prie, Dominique ^{[5
,6
]}

机构：

[1] Femme Mere Enfant Hosp, Reference Ctr Rare Renal Disorders, Reference Ctr Rare Disorders Calcium & Phosphate, Dept Pediat Nephrol Rheumatol & Dermatol, 59 Blvd Pinel, F-69677 Bron, France

[2] Lyon 1 Univ, Lyon Est Med Sch, Lyon, France

[3] INSERM 1033, LYOS, Bone Disorders Prevent, Lyon, France

[4] Paris Descartes Univ, Fac Dent Surg, EA2496, Montrouge, France

[5] Paris Descartes Univ Med, Necker Enfants Malad Inst, INSERM, U1151, Paris, France

[6] Necker Enfants Malad Hosp, AP HP, Funct Explorat Dept, Paris, France

来源：

METABOLISM-CLINICAL AND EXPERIMENTAL | 2020年 / 103卷

关键词：

FGF23; X-linked hypophosphatemia; PHEX; GROWTH-FACTOR; 23; DOMINANT HYPOPHOSPHATEMIC RICKETS; X-LINKED HYPOPHOSPHATEMIA; IRON-DEFICIENCY; VITAMIN-D; PLASMA FGF23; KLOTHO; MURINE; PHEX; 1,25-DIHYDROXYVITAMIN-D;

D O I：

10.1016/j.metabol.2019.01.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 FG123 inducing hyperphosphaternia (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. (C) 2019 Elsevier Inc. All rights reserved.

引用

页数：7

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