Disorders of Phosphate Homeostasis

Mary D. Ruppe, Suzanne M Jan De Beur

Research output: Chapter in Book/Report/Conference proceedingChapter

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 languageEnglish (US)
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Eighth Edition
PublisherWiley Blackwell
Pages601-612
Number of pages12
ISBN (Electronic)9781118453926
ISBN (Print)9781118453889
DOIs
StatePublished - 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)

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