NYMC Faculty Publications
Phosphate Homeostasis Disorders
DOI
10.1016/j.beem.2018.06.004
Journal Title
Best Practice & Research.Clinical Endocrinology & Metabolism
First Page
685
Last Page
706
Document Type
Article
Publication Date
October 2018
Department
Medicine
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.
Recommended Citation
Christov, M., & Juppner, H. (2018). Phosphate Homeostasis Disorders. Best Practice & Research.Clinical Endocrinology & Metabolism, 32 (5), 685-706. https://doi.org/10.1016/j.beem.2018.06.004
