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A clinician's guide to X-linked hypophosphatemia

  1. Thomas O Carpenter1,*,
  2. Erik A Imel2,
  3. Ingrid A Holm3,
  4. Suzanne M Jan de Beur4,
  5. Karl L Insogna5

Article first published online: 2 MAY 2011

DOI: 10.1002/jbmr.340

Issue

Journal of Bone and Mineral Research

Journal of Bone and Mineral Research

Volume 26, Issue 7, pages 1381–1388, July 2011

Additional Information

How to Cite

Carpenter, T. O., Imel, E. A., Holm, I. A., Jan de Beur, S. M. and Insogna, K. L. (2011), A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res, 26: 1381–1388. doi: 10.1002/jbmr.340

Author Information

  1. 1

    Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA

  2. 2

    Departments of Medicine and Pediatrics (Endocrinology), Indiana University School of Medicine, Indianapolis, IN, USA

  3. 3

    Division of Genetics, Program in Genomics, and the Manton Center for Orphan Disease Research, Children's Hospital Boston and Harvard Medical School, Boston, MA, USA

  4. 4

    Division of Endocrinology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA

  5. 5

    Department of Internal Medicine (Endocrinology), Yale University School of Medicine, New Haven, CT, USA

*Department of Pediatrics (Endocrinology), Yale University School of Medicine, 333 Cedar Street; PO Box 208064, New Haven, CT 06520-8064.

Publication History

  1. Issue published online: 21 JUN 2011
  2. Article first published online: 2 MAY 2011
  3. Manuscript Accepted: 13 JAN 2011
  4. Manuscript Revised: 28 DEC 2010
  5. Manuscript Received: 31 AUG 2010

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Keywords:

  • Phosphate;
  • FGF23;
  • Phex;
  • Rickets;
  • Osteomalacia

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. © 2011 American Society for Bone and Mineral Research.

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