Disorders of phosphate homeostasis in children, part 1: primer on mineral ion homeostasis and the roles of phosphate in skeletal biology

Abstract

Phosphate has extensive physiological roles including energy metabolism, genetic function, signal transduction and membrane integrity. Regarding the skeleton, not only do phosphate and calcium form the mineral component of the skeleton, but phosphate is also essential in regulating function of skeletal cells. Although our understanding of phosphate homeostasis has lagged behind and remains less than that for calcium, considerable advances have been made since the recognition of fibroblast growth factor-23 (FGF23) as a bone-derived phosphaturic hormone that is a major regulator of phosphate homeostasis. In this two-part review of disorders of phosphate homeostasis in children, part 1 covers the basics of mineral ion homeostasis and the roles of phosphate in skeletal biology. Part 1 includes phosphate-related disorders of mineralization for which overall circulating mineral ion homeostasis remains normal. Part 2 covers hypophosphatemic and hyperphosphatemic disorders, emphasizing, but not limited to, those related to increased and decreased FGF23 signaling, respectively.

Keywords: Bone; Children; Fibroblast growth factor-23; Generalized arterial calcification of infancy; Hypophosphatasia; Mineralization; Phosphate; Radiography.