Inherited Phosphate Wasting Disorders

Abstract

There are several hereditary disorders of isolated phosphate wasting that have been described. These include X-linked hypophosphatemic rickets (XLH); autosomal dominant hypophosphatemic rickets (ADHR); hypophosphatemic bone disease (HBD), and hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Phosphate wasting is also a predominant feature of disorders that result from mutations in the CLCN5 gene, however, these disorders are covered in Chapter 8. The large number of hereditary renal phosphate wasting disorders indicates that control over renal phosphate homeostasis is a complex process. Investigators are starting to find genes that when mutated result in renal phosphate wasting. The discovery of these genes provides insights into phosphate homeostasis and helps to elucidate the pathophysiology of these disorders. Additionally, in some instances, the isolation of a disease gene allows clinicians to combine what were previously thought to be distinct disorders into one disorder.KeywordsHypophosphatemic RicketsRenal PhosphatePhosphate HomeostasisAutosomal Dominant Hypophosphatemic RicketsTumor Induce OsteomalaciaThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.