Renal Phosphate Wasting Disorders

Clinical Features and Pathogenesis

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Rickets and osteomalacia are associated with hypophosphatemia in several disease states, including X-linked hypophosphatemic rickets, autosomal-dominant hypophosphatemic rickets, and tumor-induced osteomalacia. Recent advances in the understanding of these diseases include discovery of mutations in the genes encoding human phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and fibroblast growth factor 23 (FGF-23) and the finding of overproduction of FGF-23 and other proteins including matrix extracellular phosphoglycoprotein (MEPE) and frizzled-related protein 4 (FRP-4) in tumor-induced osteomalacia. Research is ongoing to better define how these proteins relate to each other and to the sodium-phosphate cotransporter in both normal and abnormal phosphate metabolism. New and improved therapies for disorders of phosphate metabolism, osteomalacia, and rickets will develop as our knowledge of phosphate metabolism grows.

Original languageEnglish
Pages (from-to)39-47
Number of pages9
JournalSeminars in Nephrology
Volume24
Issue number1
DOIs
StatePublished - Jan 2004

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Phosphates
Kidney
Osteomalacia
Rickets
Sodium-Phosphate Cotransporter Proteins
Familial Hypophosphatemic Rickets
Hypophosphatemia
Endopeptidases
Extracellular Matrix Proteins
X Chromosome
Genes
Mutation
Research
Proteins
fibroblast growth factor 23
Oncogenic osteomalacia
Therapeutics

ASJC Scopus subject areas

  • Nephrology

Cite this

Renal Phosphate Wasting Disorders : Clinical Features and Pathogenesis. / Brame, Lori A.; White, Kenneth; Econs, Michael.

In: Seminars in Nephrology, Vol. 24, No. 1, 01.2004, p. 39-47.

Research output: Contribution to journalArticle

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