X-linked hypophosphatemia

Understanding and management

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

X-Linked hypophosphatemia (XLH) is a disease of phosphorus metabolism resulting from mutations in PHEX on the X chromosome that encodes for phosphate-regulating neutral endopeptidase, X-linked (PEX), a membrane-bound metalloendopeptidase that is predominantly expressed in bone and teeth. The disease manifests in children as rickets, which progresses to osteomalacia in adults. Hypophosphatemia is the primary biochemical disturbance underlying the rickets and osteomalacia. Decreased tubular reabsorption of phosphate, the direct cause of hypophosphatemia, is due to increased plasma fibroblast growth factor 23 (FGF-23) acting on renal tubular sodium/phosphate cotransporters. Three mouse models of XLH have been developed and have greatly helped unravel the pathophysiology in humans and the exploration of new approaches to medical management. Current treatments are unsatisfactory. They do not cure the disease, but only partially relieve some of the skeletal and biochemical abnormalities, and result in several undesirable side effects. New treatments aimed at decreasing plasma FGF-23 activity show significant potential for reversing both the biochemical and rachitic/osteomalacic abnormalities.

Original languageEnglish
Pages (from-to)755-763
Number of pages9
JournalDrugs of the Future
Volume35
Issue number9
DOIs
StatePublished - Sep 2010

Fingerprint

Familial Hypophosphatemic Rickets
Rickets
Hypophosphatemia
Osteomalacia
PHEX Phosphate Regulating Neutral Endopeptidase
Sodium-Phosphate Cotransporter Proteins
Metalloendopeptidases
X Chromosome
Phosphorus
Tooth
Phosphates
Kidney
Bone and Bones
Mutation
Membranes
Therapeutics
fibroblast growth factor 23

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

Cite this

X-linked hypophosphatemia : Understanding and management. / Imel, Erik; Peacock, Munro.

In: Drugs of the Future, Vol. 35, No. 9, 09.2010, p. 755-763.

Research output: Contribution to journalArticle

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