A clinician's guide to X-linked hypophosphatemia

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Familial Hypophosphatemic Rickets* / diagnostic imaging
  • Familial Hypophosphatemic Rickets* / pathology
  • Familial Hypophosphatemic Rickets* / physiopathology
  • Familial Hypophosphatemic Rickets* / therapy
  • Genetic Diseases, X-Linked*
  • Humans
  • Practice Guidelines as Topic
  • Radiography