Abstract
In recent years, advances in defining the precise molecular defects in both acquired and inherited hypo and hyperphosphatemic syndromes have catapulted our understanding of phosphate homeostatic mechanisms to a new level. The focus of this chapter is the molecular basis of human disorders of phosphate homeostasis. The disorders discussed include hypophosphatemia, tumor-induced osteomalacia (TIO), X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets (ADHR), hyperphosphatemia, and hyperphosphatemic familial tumoral calcinosis (HFTC). Other disorders of renal phosphate wasting are also considered.
| Original language | English (US) |
|---|---|
| Title of host publication | Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Eighth Edition |
| Publisher | Wiley Blackwell |
| Pages | 601-612 |
| Number of pages | 12 |
| ISBN (Electronic) | 9781118453926 |
| ISBN (Print) | 9781118453889 |
| DOIs | |
| State | Published - Jul 19 2013 |
Keywords
- Autosomal dominant hypophosphatemic rickets
- Familial tumoral calcinosis
- Hyperphosphatemia
- Hypophosphatemia
- Phosphate homeostasis
- Renal phosphate wasting
- Tumor-induced osteomalacia (TIO)
- X-linked hypophosphatemic rickets
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)