A clinician's guide to X-linked hypophosphatemia

Thomas O. Carpenter, Erik Imel, Ingrid A. Holm, Suzanne M. Jan De Beur, Karl L. Insogna

Research output: Contribution to journalArticle

167 Citations (Scopus)

Abstract

X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and support groups have all expressed concerns about the dearth of information about this disease and the lack of treatment guidelines, which frequently lead to missed diagnoses or mismanagement. This perspective addresses the recommendation by conferees for the dissemination of concise and accessible treatment guidelines for clinicians arising from the Advances in Rare Bone Diseases Scientific Conference held at the NIH in October 2008. We briefly review the clinical and pathophysiologic features of the disorder and offer this guide in response to the conference recommendation, based on our collective accumulated experience in the management of this complex disorder.

Original languageEnglish
Pages (from-to)1381-1388
Number of pages8
JournalJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Volume26
Issue number7
DOIs
StatePublished - Jul 2011

Fingerprint

Familial Hypophosphatemic Rickets
Guidelines
Rickets
Self-Help Groups
Bone Diseases
Rare Diseases
Phosphates
Physicians
Kidney
Therapeutics

Keywords

  • FGF23
  • Osteomalacia
  • Phex
  • Phosphate
  • Rickets

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

A clinician's guide to X-linked hypophosphatemia. / Carpenter, Thomas O.; Imel, Erik; Holm, Ingrid A.; Jan De Beur, Suzanne M.; Insogna, Karl L.

In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, Vol. 26, No. 7, 07.2011, p. 1381-1388.

Research output: Contribution to journalArticle

Carpenter, Thomas O. ; Imel, Erik ; Holm, Ingrid A. ; Jan De Beur, Suzanne M. ; Insogna, Karl L. / A clinician's guide to X-linked hypophosphatemia. In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2011 ; Vol. 26, No. 7. pp. 1381-1388.
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