Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
Author(s) -
Calvin Wu,
Michael J. Econs,
Linda A. DiMeglio,
Karl Insogna,
Michael A. Levine,
Paul J. Orchard,
Weston P. Miller,
Anna Petryk,
Eric T. Rush,
Dolores Shoback,
Leanne M. Ward,
Lynda E. Polgreen
Publication year - 2017
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2017-01127
Subject(s) - osteopetrosis , medicine , delphi method , intensive care medicine , disease , pathology , mathematics , statistics
Osteopetrosis encompasses a group of rare metabolic bone diseases characterized by impaired osteoclast activity or development, resulting in high bone mineral density. Existing guidelines focus on treatment of the severe infantile forms with hematopoietic cell transplantation (HCT) but do not address the management of patients with less severe forms for whom HCT is not the standard of care. Therefore, our objective was to develop expert consensus guidelines for the management of these patients.
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