A clinician's guide to X-linked hypophosphatemia

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

Research output: Contribution to journalReview article

223 Scopus citations


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 (US)
Pages (from-to)1381-1388
Number of pages8
JournalJournal of Bone and Mineral Research
Issue number7
StatePublished - Jul 1 2011



  • FGF23
  • Osteomalacia
  • Phex
  • Phosphate
  • Rickets

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Carpenter, T. O., Imel, E. A., Holm, I. A., Jan De Beur, S. M., & Insogna, K. L. (2011). A clinician's guide to X-linked hypophosphatemia. Journal of Bone and Mineral Research, 26(7), 1381-1388. https://doi.org/10.1002/jbmr.340