Diagnosis and Management of Hypophosphatemic Disorders

In addition to being an essential component of the mineralized skeleton, phosphate plays a role in different physiologic and cellular functions. Several different mineral-regulating hormones, including 1,25-dihydroxyvitamin D, parathyroid hormone, and fibroblast growth factor 23, modulate serum phosphate levels predominantly at the level of the bone, kidney, and intestine. Impaired serum phosphate levels can lead to nonspecific symptoms, and serum phosphate levels are not routinely measured in laboratory analyses; therefore, disorders of hypophosphatemia are often overlooked during patient evaluations. In the past few decades, significant progress has been made in identifying the genetic causes of and novel therapies for hypophosphatemic disorders. In this review, the regulation of phosphate homeostasis, clinical presentation, workup, disorders, and treatment of hypophosphatemia will be discussed.