Renal Hypophosphatemia

Abstract

Over the last decade, research in the field of genetic disorders resulting in hypophosphatemia has significantly broadened our understanding of phosphate metabolism. X-linked hypophosphatemia is the most common inherited form of rickets, which is caused by renal phosphate wasting. The common denominator for all types of rickets is hypophosphatemia, which leads to an insufficient supply of the mineral to the growing bone. Recent findings on disease mechanisms and the role of fibroblast growth factor 23 (FGF23) in hypophosphatemic diseases have opened up new therapeutic avenues such as FGF23 blockade. We will discuss the genetic and clinical features of hypophosphatemic disorders and provide understanding and treatment options based on recent guidelines.