Phosphate homeostasis disorders.

Abstract

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.

• Authors: Marta Christov, Harald Jüppner
• Journal: Best practice & research. Clinical endocrinology & metabolism (Best Pract Res Clin Endocrinol Metab) Vol. 32 Issue 5 Pg. 685-706 (10 2018) ISSN: 1878-1594 [Electronic] Netherlands
• PMID: 30449549 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2018. Published by Elsevier Ltd.

Chemical References

• FGF23 protein, human
• Phosphates
• Fibroblast Growth Factors
• Fibroblast Growth Factor-23

Topics

• Bone and Bones (metabolism)
• Fibroblast Growth Factor-23
• Fibroblast Growth Factors (physiology)
• Homeostasis (physiology)
• Humans
• Hypophosphatemia (genetics, metabolism)
• Kidney (metabolism)
• Metabolic Networks and Pathways (genetics)
• Phosphates (metabolism)
• Phosphorus Metabolism Disorders (diagnosis, genetics, metabolism)