New insights into the pathogenesis of inherited phosphate wasting disorders

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets are inherited phosphate wasting disorders. X-linked hypophosphatemic rickets results from mutations in the PHEX gene, which codes for a protein that is a member of the neutral endopeptidase family. The gene that is responsible for autosomal dominant hypophosphatemlc rickets has not yet been identified, however, positional cloning studies have narrowed the gene locus to chromosome 12p13. This review will focus on the pathogenesis of these disorders and how these disorders provide insight into normal phosphate homeostasis.

Original languageEnglish (US)
Pages (from-to)131-135
Number of pages5
JournalBone
Volume25
Issue number1
DOIs
StatePublished - Jul 1999

Keywords

  • Autosomal dominant hypophosphatemic rickets
  • Familial hypophosphatemia
  • Hypophosphatemia
  • Hypophosphatemic bone disease
  • PHEX
  • X-linked hypophosphatemic rickets

ASJC Scopus subject areas

  • Physiology
  • Hematology

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