Disorders of phosphate homeostasis

Mary D. Ruppe, Suzanne M Jan De Beur

Research output: Chapter in Book/Report/Conference proceedingChapter


Phosphorus is a critical element in skeletal development, bone mineralization, membrane composition, nucleotide structure, and cellular signaling. Serum phosphorus concentration is regulated by diet, hormones, pH, and changes in renal, skeletal, and intestinal function. This chapter focuses on the molecular basis of human disorders of phosphate homeostasis. The disorders include hypophosphatemia, tumor-induced osteomalacia (TIO), X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR), hyperphosphatemia, and familial tumoral calcinosis. ADHR is a rare form of hypophosphatemic rickets with clinical characteristic similar to XLH. Treatment of hyperphosphatemia should address the underlying etiology. In acute exogenous phosphorus overload, prompt discontinuation of supplemental phosphorus and hydration allow for rapid correction of hyperphosphatemia. Use of sevelamer, acetazolamide, sodium thiosulfate and IL-1 antagonists have been reported to successfully decrease tumor burden. Surgical intervention is an option in patients when the masses are painful, interfere with function, or are cosmetically unacceptable.

Original languageEnglish (US)
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Number of pages10
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
StatePublished - Jan 1 2018


  • Autosomal dominant hypophosphatemic rickets
  • Familial tumoral calcinosis
  • Human disorders
  • Hyperphosphatemia
  • Hypophosphatemia
  • Phosphate homeostasis
  • Tumor-induced osteomalacia
  • X-linked hypophosphatemic rickets

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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