A clinician's guide to X-linked hypophosphatemia

Authors

  • Thomas O Carpenter,

    Corresponding author
    1. Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, 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.
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  • Erik A Imel,

    1. Departments of Medicine and Pediatrics (Endocrinology), Indiana University School of Medicine, Indianapolis, IN, USA
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  • Ingrid A Holm,

    1. 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
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  • Suzanne M Jan de Beur,

    1. Division of Endocrinology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA
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  • Karl L Insogna

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

This article is corrected by:

  1. Errata: A Clinician's Guide to X-Linked Hypophosphatemia Volume 30, Issue 2, 394, Article first published online: 22 January 2015

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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