A clinician's guide to X‐linked hypophosphatemia

TO Carpenter, EA Imel, IA Holm… - Journal of Bone and …, 2011 - academic.oup.com
TO Carpenter, EA Imel, IA Holm, SM Jan de Beur, KL Insogna
Journal of Bone and Mineral Research, 2011academic.oup.com
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 …
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.
Oxford University Press