Trusted Resources: Education

Scientific literature and patient education texts

A Clinician’s Guide to X-Linked Hypophosphatemia

key information

source: Journal of Bone and Mineral Research

year: 2011

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


X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and XLH 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 National Institutes of Health in October 2008. We briefly review the clinical and pathophysiologic features of the disorder, and offer this guide in response to the conference recommendation, base on our collective accumulated experience in the management of this complex disorder.

organization: Yale University School of Medicine, USA

DOI: 10.1002/jbmr.340

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